variantaccession chr start end varianttype variantsubtype reference pubmedid method platform mergedvariants supportingvariants mergedorsample frequency samplesize observedgains observedlosses cohortdescription genes samples nsv7879 1 10001 127330 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14789,nssv14770,nssv21423,nssv14772,nssv14785,nssv14790,nssv14786,nssv14762,nssv14787,nssv14766,nssv14776,nssv14775,nssv14768,nssv14784,nssv14783,nssv14771,nssv14781,nssv18113,nssv14764,nssv18117,nssv14763,nssv18103,nssv14773,nssv14788,nssv18093,nssv14782,nssv14780,nssv14791,nssv14777,nssv14774 M 31 29 1 Samples from several populations that are part of the HapMap project. FAM138A,FAM138F,OR4F5,WASH7P NA07029,NA07048,NA10839,NA10863,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv7234e59 1 10051 37787 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37139,esv35604 M 6 0 2 FAM138A,FAM138F,WASH7P NA12878,NA19239 dgv1e1 1 10377 177417 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15097,essv15821,essv10172,essv11114,essv3863,essv9162,essv14783 M 271 0 0 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P NA18860,NA18994,NA19129,NA19130,NA19159,NA19211,NA19223 nsv428112 1 10377 177417 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450130 S 62 1 0 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P HGDP01088 dgv3e1 1 10377 1018704 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7224,essv6104,essv606,essv12864,essv6524,esv595 M 271 0 0 AGRN,C1orf159,C1orf170,FAM138A,FAM138F,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC643837,LOC729737,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,RNF223,SAMD11,WASH7P NA18502,NA18547,NA18572,NA18573,NA18947 esv27265 1 10499 177368 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19430,esv19525,esv16041,esv17542,esv14423,esv20178,esv15038 M 451 32 6 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P NA06985,NA07037,NA11894,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv469759 1 27980 177346 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649780 M 265 0 Samples from several populations that are part of the HapMap project. FAM138A,FAM138F,LOC729737,OR4F5,WASH7P nsv471591 1 27981 177346 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550435,nssv550438,nssv550437,nssv550436 M 48 0 4 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P NA10492A,NA10970,NA10971,NA17051 esv36808 1 27988 36387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115231 S 6 0 1 Samples from several populations that are part of the HapMap project. FAM138A,FAM138F,WASH7P NA12892 esv37632 1 36488 44587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113352 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 esv36756 1 37888 41687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114057 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv166175 1 38988 44287 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161174 S 185 0 4 Samples from several populations that are part of the HapMap project. "" NA12249,NA18542,NA18953,NA19225 esv38888 1 43075 43563 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121888 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7235e59 1 43988 54987 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36455,esv36091 M 6 0 2 "" NA19238,NA19240 esv37532 1 44788 47987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116559 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv35217 1 46688 52487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116394 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv160598 1 48088 52987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv495009,essv493727,essv437824,essv443452,essv468058,essv490900,essv436102 M 185 0 7 Samples from several populations that are part of the HapMap project. "" NA12044,NA18522,NA18566,NA18871,NA18912,NA18943,NA19225 esv36825 1 51088 55387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113257 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 esv159569 1 53088 57687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv432533,essv478109,essv481449,essv487802,essv435271,essv486242,essv449148,essv437764,essv460026,essv464226,essv445590,essv430048,essv491579,essv486690,essv460653,essv430730,essv490381,essv451442,essv488144,essv458566,essv492940,essv453574,essv475288,essv473250,essv444945,essv443462,essv466426,essv480323,essv430461,essv447788,essv468397,essv441801,essv490824,essv457563,essv493710,essv448273,essv435476,essv448591,essv450878,essv443584,essv486034,essv478276 M 185 0 42 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07347,NA07357,NA10847,NA10851,NA11881,NA11919,NA11920,NA11931,NA12003,NA12043,NA12044,NA12156,NA12249,NA12414,NA12749,NA12750,NA12751,NA12776,NA12878,NA12891,NA12892,NA18511,NA18517,NA18542,NA18558,NA18561,NA18564,NA18566,NA18871,NA18909,NA18912,NA18916,NA18942,NA18944,NA18951,NA18952,NA18961,NA18980,NA19099,NA19108 nsv437198 1 55394 86303 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467079 S 60 0 1 Samples from several populations that are part of the HapMap project. OR4F5 NA19208 esv166248 1 56488 59087 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161588,esv161616 M 185 0 37 Samples from several populations that are part of the HapMap project. "" NA07346,NA10847,NA11881,NA11931,NA11994,NA12154,NA12156,NA12249,NA12287,NA12750,NA12776,NA12892,NA18498,NA18507,NA18511,NA18517,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18572,NA18576,NA18577,NA18582,NA18593,NA18608,NA18916,NA18940,NA18942,NA18944,NA18959,NA19108 esv166342 1 59588 64287 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160450 S 185 0 22 Samples from several populations that are part of the HapMap project. "" NA07000,NA07347,NA11830,NA11920,NA11931,NA12003,NA12156,NA12414,NA12751,NA12776,NA12892,NA18498,NA18519,NA18542,NA18547,NA18550,NA18552,NA18577,NA18912,NA18942,NA18944,NA18951 esv160277 1 61088 65987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv488099,essv487866,essv451469,essv472524,essv492734,essv474371,essv446042,essv492983,essv459984,essv479740,essv473493,essv490917,essv457587,essv486014 M 185 0 14 Samples from several populations that are part of the HapMap project. "" NA07346,NA11931,NA11994,NA12750,NA12878,NA18498,NA18517,NA18519,NA18608,NA18912,NA18916,NA18961,NA18965,NA19108 dgv7236e59 1 62488 67287 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35530,esv36770 M 6 0 2 "" NA19238,NA19240 esv165648 1 63588 67887 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161651 S 185 0 8 Samples from several populations that are part of the HapMap project. "" NA10847,NA12006,NA12156,NA12813,NA18558,NA18566,NA18605,NA19153 esv37284 1 65488 67662 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114703,essv115092,essv113699 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 dgv7237e59 1 65788 69887 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35441,esv36566,esv37219 M 6 0 3 OR4F5 NA19238,NA19239,NA19240 nsv437859 1 66008 79078 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467740,nssv471312,nssv468851,nssv471201,nssv471090,nssv470979,nssv469962,nssv471423 M 269 0 8 Samples from several populations that are part of the HapMap project. OR4F5 NA10831,NA10857,NA12044,NA12155,NA18912,NA18914,NA19207,NA19208 esv165721 1 67188 72187 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv159846 S 185 0 5 Samples from several populations that are part of the HapMap project. OR4F5 NA12249,NA12878,NA18558,NA18943,NA18961 nsv514929 1 68497 70627 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628442 S 1414 0 0 OR4F5 esv166414 1 69988 75487 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160515 S 185 0 17 Samples from several populations that are part of the HapMap project. OR4F5 NA07346,NA10851,NA11931,NA12003,NA12043,NA12044,NA12156,NA12249,NA12892,NA18542,NA18562,NA18564,NA18566,NA18576,NA18582,NA18638,NA18953 esv37415 1 75638 81237 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113852,essv114484 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv161727 1 77288 83087 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv486032,essv435093,essv477090,essv493722,essv489838,essv461755,essv444824,essv482352,essv490305,essv480388,essv451536,essv452105,essv430409,essv463896,essv465794,essv460481,essv436815,essv487847,essv432561,essv440517,essv451121,essv435525,essv438362 M 185 0 23 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11993,NA12003,NA12156,NA12414,NA12489,NA12750,NA12751,NA18517,NA18561,NA18564,NA18566,NA18576,NA18577,NA18582,NA18593,NA18916,NA18944,NA18949,NA18951,NA18974,NA19131 dgv7238e59 1 78888 92787 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36253,esv43460 M 6 0 2 "" NA12878,NA12891 esv160977 1 81388 86287 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv437381,essv452434,essv443522,essv486254,essv460747,essv490974,essv487738,essv478330,essv474403,essv493706,essv465266,essv434517,essv430021,essv480212,essv451859,essv441337,essv445679,essv451368,essv461953,essv453571,essv449264,essv485858,essv488259,essv443471,essv466509,essv459878,essv442646,essv475173,essv432231,essv485986,essv457529,essv448797,essv489523,essv470439,essv445055,essv435156,essv492875,essv486786 M 185 0 38 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA07357,NA10847,NA10851,NA11830,NA11832,NA11931,NA11995,NA12003,NA12043,NA12044,NA12045,NA12144,NA12249,NA12750,NA12751,NA12776,NA12878,NA12891,NA18499,NA18505,NA18517,NA18519,NA18537,NA18542,NA18558,NA18564,NA18566,NA18593,NA18912,NA18916,NA18944,NA18949,NA18952,NA19099,NA19108 esv43296 1 84838 90287 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv36159,esv36571 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv166254 1 86788 90187 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160343,esv160700 M 185 0 71 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11931,NA11992,NA11994,NA11995,NA12003,NA12043,NA12044,NA12144,NA12156,NA12249,NA12414,NA12489,NA12749,NA12750,NA12751,NA12776,NA12828,NA12878,NA12891,NA12892,NA18505,NA18508,NA18511,NA18517,NA18519,NA18555,NA18558,NA18566,NA18572,NA18577,NA18582,NA18593,NA18608,NA18853,NA18912,NA18916,NA18940,NA18944,NA18951,NA18956,NA18980,NA19099,NA19108,NA19131,NA19138,NA19200,NA19201,NA19207 nsv161172 1 88190 89153 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179750 M 24 "" esv160332 1 88788 93587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv453454,essv445503,essv450174,essv489807,essv448845,essv481448,essv493605,essv491003,essv437227,essv463797,essv490604,essv475208,essv452116,essv477698,essv481776,essv430700,essv442555,essv445687,essv435171,essv488209,essv464256,essv479643,essv492936,essv429978,essv459899,essv445069,essv462056,essv468324,essv430318,essv434477,essv443014,essv447969,essv440814,essv484594,essv463637,essv486343,essv478509,essv474346,essv473856,essv486241 M 185 0 40 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07347,NA07357,NA11830,NA11832,NA11881,NA11894,NA11919,NA11931,NA11995,NA12003,NA12044,NA12144,NA12156,NA12249,NA12414,NA12489,NA12751,NA12776,NA12878,NA12891,NA12892,NA18505,NA18508,NA18519,NA18542,NA18558,NA18566,NA18593,NA18605,NA18638,NA18909,NA18912,NA18948,NA18949,NA18951,NA18952,NA19099,NA19114 esv36035 1 90038 92637 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113629 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12891 dgv7239e59 1 90588 99387 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37345,esv35591 M 6 0 2 "" NA19239,NA19240 esv37548 1 92888 97487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113238 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 esv37442 1 98688 101887 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115513 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv7240e59 1 102088 106787 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35665,esv35638 M 6 0 2 "" NA19239,NA19240 dgv7241e59 1 105788 110187 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35679,esv35378 M 6 0 2 "" NA19238,NA19239 esv36011 1 105788 112287 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115604 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv36962 1 108888 112187 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116147 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv37251 1 135288 138487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115617 S 6 0 1 Samples from several populations that are part of the HapMap project. LOC729737 NA19240 esv991724 1 136181 137326 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586083 S 3 0 1 LOC729737 HuRef nsv8990 1 176262 177360 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14779 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18572 dgv7242e59 1 228888 239787 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36805,esv36906,esv37462 M 6 0 3 "" NA12878,NA19239,NA19240 esv36832 1 230088 236687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115091 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12892 esv36973 1 240288 244587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115554 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv7243e59 1 243988 248287 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37640,esv36846 M 6 0 2 "" NA19239,NA19240 dgv7244e59 1 248488 252587 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36288,esv36101 M 6 0 2 "" NA19238,NA19239 esv35882 1 248488 255187 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115580 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv7245e59 1 251088 256387 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35789,esv37581 M 6 0 2 "" NA19238,NA19239 dgv4e1 1 317720 471368 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19171,essv6302,essv19438,essv2061 M 271 0 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA11840,NA12865,NA18609,NA18949 nsv428223 1 317720 471368 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450686,nssv450575 M 62 1 1 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 HGDP00984,NA18498 dgv5e1 1 317720 643032 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5240,essv2576,essv5822,essv4432,essv21228,essv5209,essv6730,essv479,essv6152,essv13159,essv6604,essv16896,essv4965,essv8373,essv22870,essv21797,essv7529,essv3078,essv4859,essv3049,essv18731,essv563,essv20585,essv15391,essv5049,essv7127,essv6816,essv18422,essv275,essv5344,essv18928,essv15368,essv14749,essv14061,essv398,essv1788,essv22385,essv16293,essv6021,essv21138,essv42,essv13070 M 271 0 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA07056,NA11830,NA12005,NA12239,NA12249,NA12760,NA12815,NA12874,NA12875,NA18532,NA18537,NA18540,NA18545,NA18562,NA18563,NA18566,NA18571,NA18573,NA18576,NA18579,NA18611,NA18621,NA18624,NA18637,NA18852,NA18858,NA18861,NA18862,NA18952,NA18969,NA18971,NA18978,NA18981,NA18990,NA18991,NA18997,NA18998,NA19102,NA19159,NA19161,NA19203,NA19205 esv27883 1 317770 471337 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17876,esv20401,esv15703,esv9873,esv10639,esv13800,esv15785,esv13367,esv14573,esv16611,esv20387 M 451 15 18 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA11894,NA11993,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19190,NA19225 nsv829647 1 317874 425175 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442628,nssv1448183,nssv1445961,nssv1441518,nssv1447072,nssv1441517,nssv1444850,nssv1441629,nssv1450405,nssv1443739,nssv1449294 M 95 1 10 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 nsv471518 1 318139 470924 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547887,nssv547890,nssv547888 M 3 3 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 dgv1n14 1 321799 466601 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433342,nsv433344,nsv433345 M 9 3 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA12156,NA18555,NA19240 esv35928 1 341038 343437 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113550 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12891 nsv10050 1 348092 641599 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21433,nssv14765,nssv18102,nssv18092,nssv18109,nssv26886,nssv21439,nssv24618,nssv28054,nssv14769,nssv18110,nssv21435,nssv18094,nssv18107,nssv18105,nssv26896,nssv18101,nssv26902,nssv21450,nssv18104,nssv14767,nssv21426,nssv21424,nssv18099,nssv24597,nssv24614,nssv24606,nssv18095,nssv18120,nssv14778,nssv18118,nssv24620,nssv24594,nssv21446,nssv18096,nssv21443,nssv18098,nssv18114,nssv21441,nssv18121,nssv21447,nssv18112,nssv18111,nssv18106,nssv24595,nssv18100,nssv18116,nssv24604,nssv24612,nssv21449,nssv18115,nssv18119 M 31 13 39 Samples from several populations that are part of the HapMap project. OR4F16,OR4F29,OR4F3 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv37186 1 365488 368587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115805 S 6 0 1 Samples from several populations that are part of the HapMap project. OR4F16,OR4F29,OR4F3 NA19239 nsv514924 1 367049 368179 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628443 S 1414 0 0 OR4F16,OR4F29,OR4F3 esv35519 1 367588 371287 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115792 S 6 0 1 Samples from several populations that are part of the HapMap project. OR4F16,OR4F29,OR4F3 NA19239 esv35345 1 370788 374687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116379 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv159962 1 373188 379687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv473213,essv436395,essv474231,essv486655,essv451112,essv430145,essv469976,essv450193,essv442626,essv446186,essv436050,essv449245,essv467352,essv471680,essv442221,essv442810,essv437916,essv440742,essv463680,essv429962,essv459838,essv459527,essv461742,essv468176,essv481615,essv482806,essv434946,essv474943,essv430600,essv493652,essv449643,essv489200,essv472619,essv457560,essv495116,essv463964,essv476731,essv474334,essv431069,essv479163,essv489394,essv494125 M 185 0 42 Samples from several populations that are part of the HapMap project. "" NA06986,NA10847,NA11830,NA11894,NA11919,NA11920,NA12249,NA12287,NA18505,NA18510,NA18519,NA18520,NA18522,NA18523,NA18532,NA18537,NA18542,NA18547,NA18561,NA18562,NA18566,NA18570,NA18572,NA18579,NA18603,NA18605,NA18856,NA18858,NA18861,NA18871,NA18907,NA18943,NA18945,NA18947,NA18948,NA18949,NA18951,NA18965,NA19005,NA19108,NA19114,NA19147 esv43478 1 375488 385087 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv35837 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv160916 1 382388 388587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv469326,essv478860,essv446103,essv437703,essv487438,essv473696,essv456643,essv477840,essv429974,essv459516,essv430425,essv495038,essv445195,essv470012,essv437880,essv449698,essv450288,essv473491,essv488764,essv457110 M 185 0 20 Samples from several populations that are part of the HapMap project. "" NA11881,NA11994,NA12249,NA12414,NA12763,NA18502,NA18510,NA18522,NA18526,NA18537,NA18547,NA18563,NA18592,NA18608,NA18858,NA18871,NA18948,NA18953,NA18973,NA19238 esv161308 1 384138 386637 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476262,essv492313,essv458784,essv485021,essv461355,essv471725,essv479597,essv465394 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36355 1 384788 387687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116169 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv35797 1 408988 414887 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114424 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7246e59 1 424088 430487 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37133,esv36578 M 6 0 2 "" NA12878,NA19238 esv35938 1 429988 433487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114552 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv161270 1 432988 437487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv465458,essv453648,essv488641,essv441328,essv481724,essv460960,essv461486,essv437389,essv467161,essv453037,essv471061,essv484826,essv449183,essv463525,essv447793,essv480042,essv475260,essv463772,essv468554,essv486950,essv449573,essv489338,essv436551,essv460693,essv476999 M 185 0 25 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA10847,NA11830,NA11894,NA11995,NA12045,NA12287,NA12716,NA12776,NA18504,NA18520,NA18526,NA18532,NA18563,NA18572,NA18593,NA18858,NA18944,NA18951,NA18964,NA18971,NA19114,NA19129,NA19207 esv160296 1 434788 438987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv479569,essv437664,essv495100,essv456673,essv432753,essv449312,essv430441,essv466970,essv475236,essv487823,essv482628,essv476967,essv432412,essv441012 M 185 0 14 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA10847,NA11831,NA12414,NA12716,NA12763,NA12776,NA18517,NA18522,NA18564,NA18572,NA18953,NA19172 esv994970 1 436729 461014 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586250 S 3 0 1 "" HuRef esv161736 1 447388 452487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv486567,essv482681,essv486875,essv435335,essv492465,essv470476,essv442724,essv445193,essv475268,essv449432,essv452398,essv454892,essv495029,essv470393,essv476859,essv437654,essv472410,essv462458,essv456978,essv489724,essv478338,essv449163,essv475086,essv469488,essv480530,essv490184,essv463538,essv473584,essv495520,essv460933,essv473178,essv450540,essv482014,essv436489,essv479249,essv493912,essv442517,essv438202,essv482639,essv494841,essv468604,essv450669,essv460259,essv432546,essv449588,essv440019,essv473782,essv474424,essv444363,essv433938,essv451557,essv453726,essv481188 M 185 0 53 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA10847,NA11894,NA11920,NA11992,NA11993,NA12006,NA12776,NA12828,NA18502,NA18504,NA18511,NA18519,NA18522,NA18526,NA18532,NA18537,NA18542,NA18547,NA18552,NA18555,NA18558,NA18561,NA18564,NA18572,NA18573,NA18579,NA18592,NA18603,NA18605,NA18609,NA18853,NA18858,NA18945,NA18947,NA18949,NA18953,NA18956,NA18960,NA18961,NA18971,NA18973,NA18976,NA18981,NA19005,NA19098,NA19138,NA19159,NA19172,NA19207,NA19238,NA19240 esv159738 1 449488 454087 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv478955,essv430665,essv475163,essv479335,essv482574,essv468526,essv449563 M 185 0 7 Samples from several populations that are part of the HapMap project. "" NA07346,NA12776,NA18547,NA18858,NA18909,NA18971,NA19172 dgv7247e59 1 449888 454587 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35562,esv35792 M 6 0 2 "" NA19238,NA19240 esv36362 1 449988 458087 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115838 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv165445 1 454288 459087 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160944 S 185 0 13 Samples from several populations that are part of the HapMap project. "" NA11831,NA12045,NA12414,NA12776,NA18526,NA18532,NA18561,NA18572,NA18582,NA18608,NA18943,NA18971,NA19102 esv36900 1 455288 460687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114336 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7248e59 1 459688 471368 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36389,esv37276 M 6 0 2 "" NA12878,NA12892 esv37460 1 459788 462787 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113229 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 esv1004360 1 461061 471368 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586709 S 3 1 0 "" HuRef esv43479 1 521369 530387 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37429 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12891 dgv1e188 1 521369 643032 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1813832,esv1842815,esv1827749 M 6 0 3 OR4F16,OR4F29,OR4F3 NA15510,NA18517,NA18980 dgv6e1 1 521369 643032 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12580,essv10930,essv18284,essv22335,essv15621,essv14521,essv7731,essv24485,essv799,essv17510,essv11047,essv12764,essv23929,essv11117,essv8925,essv19976,essv22644,essv24873,essv1893,essv24808,essv3733,essv16677,essv2208,essv13036,essv13871,essv10308,essv10404,essv7384,essv14172,essv24729,essv23021,essv18354,essv14424,essv1405,essv21964,essv15488,essv22119,essv10859,essv22778,essv15555,essv14380,essv21244,essv11817,essv2682,essv4291,essv15140,essv5438,essv1234,essv23690,essv23485,essv19771,essv9198,essv12783,essv20202,essv23137,essv20297,essv12450,essv19599,essv3867,essv5713,essv4036,essv8230,essv12160,essv15885,essv19212,essv9009,essv6689,essv21709,essv4148,essv5112,essv8274,essv12294,essv4875,essv11537,essv6244,essv8485,essv8788,essv24509,essv852,essv9445,essv10692,essv16405,essv18181,essv15246,essv2348,essv5926,essv18129,essv4690,essv17122,essv9122,essv13620,essv13768,essv17097,essv680,essv10773,essv20899,essv13656,essv9811,essv21382,essv12660,essv16119,essv1195,essv11286,essv18622,essv3219,essv15724,essv14290,essv3975,essv13540,essv1953,essv22228,essv16081,essv11842,essv9346,essv11947,essv9715,essv7831,essv22837,essv2295 M 271 0 0 OR4F16,OR4F29,OR4F3 NA06985,NA07000,NA07019,NA07034,NA10835,NA10838,NA10846,NA10855,NA10857,NA10860,NA10863,NA11829,NA11832,NA11993,NA11994,NA11995,NA12004,NA12044,NA12056,NA12057,NA12144,NA12155,NA12234,NA12248,NA12740,NA12752,NA12762,NA12801,NA12802,NA12812,NA12813,NA12814,NA12891,NA18500,NA18501,NA18502,NA18505,NA18506,NA18507,NA18508,NA18516,NA18521,NA18523,NA18550,NA18555,NA18558,NA18561,NA18577,NA18593,NA18603,NA18608,NA18622,NA18623,NA18632,NA18633,NA18635,NA18636,NA18853,NA18854,NA18855,NA18859,NA18860,NA18863,NA18871,NA18912,NA18913,NA18914,NA18940,NA18951,NA18956,NA18959,NA18960,NA18961,NA18966,NA18967,NA18970,NA18974,NA18975,NA18976,NA18994,NA18995,NA19000,NA19007,NA19094,NA19098,NA19100,NA19101,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19142,NA19143,NA19153,NA19160,NA19171,NA19172,NA19173,NA19194,NA19200,NA19201,NA19202,NA19204,NA19207,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223 esv21732 1 521413 724071 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20880,esv17670,esv17928,esv16417,esv18879,esv12525,esv10580,esv18811,esv12770,esv17045,esv19173,esv19351,esv17998,esv17284 M 451 28 21 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 NA06985,NA07037,NA07045,NA11894,NA11993,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18505,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 esv992503 1 521458 547879 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586722 S 3 0 1 "" HuRef nsv471522 1 522139 756783 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547897,nssv547899,nssv547898 M 3 3 0 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 esv159886 1 522188 522287 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv431687,essv430323,essv484340,essv470707,essv437499,essv442792,essv460267,essv475132,essv482751,essv460924,essv463623,essv461805,essv469341,essv489823,essv431188,essv463773,essv436310,essv455363,essv441266,essv474028,essv486359,essv440758,essv473027,essv495731,essv432670,essv489952,essv441143,essv488166,essv488040,essv459038,essv429918,essv449289,essv487874,essv450247,essv430555,essv478387,essv493648,essv491918,essv490989,essv465524,essv479234,essv452938,essv449695,essv482405,essv470125,essv430191,essv456930,essv453451,essv481780,essv451274 M 185 0 50 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA10847,NA11830,NA11831,NA11894,NA11920,NA11995,NA12006,NA12045,NA12249,NA12414,NA12749,NA12776,NA12828,NA12891,NA18498,NA18504,NA18517,NA18532,NA18537,NA18542,NA18547,NA18558,NA18562,NA18566,NA18579,NA18592,NA18603,NA18605,NA18853,NA18856,NA18858,NA18861,NA18907,NA18912,NA18940,NA18948,NA18949,NA18951,NA18953,NA18961,NA18964,NA18973,NA19093,NA19102,NA19114,NA19129,NA19172,NA19240 esv160672 1 522588 527987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv460831,essv477192,essv476728,essv429789,essv453070,essv493952,essv440338,essv430881,essv468483,essv431617,essv450059,essv493693,essv467028,essv465583,essv466125,essv440659,essv453458,essv443164,essv463698,essv458293,essv475223,essv495532,essv481480,essv429941,essv492996,essv485138,essv471620,essv459488,essv449304,essv443742,essv462108,essv488719,essv457586,essv478724,essv430482,essv470463,essv486764,essv435010,essv449732,essv438132,essv436619,essv489653,essv474812,essv442641 M 185 0 44 Samples from several populations that are part of the HapMap project. "" NA10847,NA11830,NA11894,NA11931,NA11995,NA12006,NA12044,NA12249,NA12287,NA12716,NA12749,NA12761,NA12776,NA12891,NA12892,NA18504,NA18505,NA18510,NA18532,NA18537,NA18542,NA18558,NA18562,NA18563,NA18566,NA18572,NA18577,NA18858,NA18861,NA18907,NA18940,NA18945,NA18947,NA18948,NA18949,NA18964,NA18971,NA18974,NA18981,NA19108,NA19129,NA19147,NA19159,NA19190 esv1791862 1 523023 573186 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4369381 S 6 0 1 "" NA12239 esv1840531 1 525698 573838 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4399523 S 6 1 0 "" NA10851 esv166583 1 526088 531187 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv159830 S 185 0 41 Samples from several populations that are part of the HapMap project. "" NA10847,NA11831,NA11894,NA11920,NA11992,NA11994,NA11995,NA12006,NA12249,NA12287,NA12414,NA12761,NA12776,NA12891,NA18489,NA18510,NA18526,NA18532,NA18537,NA18542,NA18547,NA18558,NA18562,NA18564,NA18572,NA18579,NA18608,NA18609,NA18858,NA18912,NA18947,NA18948,NA18949,NA18959,NA18964,NA18971,NA18973,NA19129,NA19153,NA19190,NA19240 esv160261 1 527888 532387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv470330,essv463608,essv481470,essv435024,essv443463,essv453597,essv460233,essv430915,essv482810,essv494274,essv486668,essv465607,essv491028,essv459634,essv430549,essv484827,essv453004,essv440663,essv495562,essv471541,essv444865,essv473209,essv484119,essv456371,essv441152,essv458419,essv435252,essv449221,essv445755,essv466769,essv451338,essv461651,essv468297,essv460934,essv452111,essv475147,essv450448,essv473341,essv465570,essv457513,essv429702,essv468663,essv452715,essv467666,essv478297,essv449635,essv487231,essv457418,essv433781,essv474549,essv476997,essv455268,essv478960,essv489472,essv431968,essv442274,essv454680,essv493646 M 185 0 58 Samples from several populations that are part of the HapMap project. "" NA06994,NA07357,NA10847,NA11830,NA11831,NA11894,NA11919,NA11920,NA11992,NA11995,NA12003,NA12006,NA12044,NA12287,NA12489,NA12749,NA12750,NA12751,NA12763,NA12776,NA12891,NA12892,NA18489,NA18504,NA18510,NA18526,NA18537,NA18542,NA18547,NA18558,NA18562,NA18566,NA18570,NA18572,NA18573,NA18577,NA18579,NA18608,NA18858,NA18861,NA18907,NA18912,NA18940,NA18945,NA18947,NA18949,NA18956,NA18964,NA18971,NA18973,NA19005,NA19102,NA19108,NA19119,NA19129,NA19147,NA19190,NA19240 esv36553 1 528488 535787 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113394 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 dgv2e188 1 529380 536669 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1828120,esv1845706 M 6 2 0 "" NA15510,NA18980 esv37258 1 530488 533387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113995 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160905 1 531188 535987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv470600,essv432084,essv441207,essv438095,essv449262,essv463647,essv475224,essv484310,essv451677,essv481642,essv437472 M 185 0 11 Samples from several populations that are part of the HapMap project. "" NA10847,NA11831,NA11894,NA11995,NA12776,NA18564,NA18853,NA18953,NA18960,NA19114,NA19159 dgv7249e59 1 532088 535187 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35961,esv37218 M 6 0 2 "" NA19239,NA19240 esv1836700 1 532546 547854 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4394551 S 6 1 0 "" NA10851 nsv830758 1 539255 656750 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442184,nssv1441851,nssv1441740,nssv1442073,nssv1441962,nssv1442517,nssv1442295,nssv1442406 M 95 0 8 OR4F16,OR4F29,OR4F3 esv166486 1 540788 545387 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160335 S 185 0 42 Samples from several populations that are part of the HapMap project. "" NA10847,NA11894,NA11931,NA11993,NA12004,NA12006,NA12155,NA12249,NA12287,NA12716,NA12776,NA12813,NA12828,NA18489,NA18504,NA18510,NA18511,NA18532,NA18537,NA18542,NA18561,NA18562,NA18564,NA18572,NA18573,NA18577,NA18582,NA18608,NA18609,NA18858,NA18907,NA18912,NA18943,NA18948,NA18951,NA18959,NA18960,NA18965,NA18971,NA18981,NA19005,NA19159 esv159635 1 542788 547887 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv481439,essv464850,essv451160,essv472753,essv457520,essv453298,essv462710,essv438135,essv482485,essv486347,essv441416,essv480437,essv490903,essv463286,essv450381,essv487707,essv492368,essv449253,essv437854,essv459463,essv441008,essv461075,essv473720,essv475175,essv435089,essv461899,essv488094,essv473109,essv463586,essv447951,essv466798,essv468371,essv443334,essv481406,essv473547,essv489279,essv451652,essv455189,essv482782,essv474474,essv494960,essv431472,essv430076,essv437511,essv470582,essv493661,essv455432,essv439661 M 185 0 48 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA10847,NA11830,NA11831,NA11832,NA11894,NA11919,NA11920,NA11992,NA12003,NA12044,NA12045,NA12154,NA12155,NA12776,NA12892,NA18489,NA18498,NA18502,NA18504,NA18510,NA18517,NA18519,NA18520,NA18522,NA18542,NA18555,NA18566,NA18579,NA18608,NA18853,NA18856,NA18871,NA18912,NA18940,NA18953,NA18960,NA18961,NA18964,NA18965,NA18967,NA19093,NA19102,NA19108,NA19159,NA19171,NA19172 esv35825 1 543488 547187 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114857 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv3e188 1 543542 564624 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1821113,esv1802818,esv1814196 M 6 0 3 "" NA12239,NA18517,NA18576 esv159980 1 544688 549787 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461009,essv453856,essv449197,essv475205,essv463690,essv449420 M 185 0 6 Samples from several populations that are part of the HapMap project. "" NA10847,NA11894,NA12776,NA18504,NA19138,NA19207 esv159580 1 544713 547262 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv479429,essv475446,essv459168,essv461306,essv484571,essv471734,essv465344,essv492005 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv7250e59 1 545688 548987 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37236,esv35993 M 6 0 2 "" NA12878,NA12891 esv1796338 1 546479 548595 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4374369 S 6 0 1 "" NA12239 dgv4e188 1 546661 547880 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1817251,esv1800222,esv1844314,esv1827642,esv1805600 M 6 0 5 "" NA12239,NA15510,NA18517,NA18576,NA18980 dgv5e188 1 546661 574532 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1819540,esv1810697,esv1792849 M 6 0 3 "" NA12239,NA18517,NA18576 dgv7251e59 1 553088 559787 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36917,esv36032 M 6 0 2 "" NA12878,NA19238 esv165899 1 554988 560587 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161617 S 185 0 8 Samples from several populations that are part of the HapMap project. "" NA11894,NA11995,NA12716,NA12776,NA12828,NA18609,NA18858,NA18971 esv37380 1 563388 571387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116467 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv40940 1 564071 564658 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112007 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv42475 1 564369 564684 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112851 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv1e24 1 564434 649747 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750553,esv2750488,esv2750552,esv2750643,esv2750702,esv2750730,esv2750566,esv2750575,esv2750723,esv2750735,esv2750751,esv2750642,esv2750655 M 51 0 13 OR4F16,OR4F29,OR4F3 21634,21837,21847,21863,21872,21911,21938,21972,22007,22170,22231,22278,22371 dgv2n14 1 564477 706368 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433346,nsv433347 M 9 2 0 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 NA12156,NA19240 nsv820617 1 564540 570775 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419880 S 1 1 0 "" NA10851 esv41434 1 564594 564856 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111645 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv41843 1 564634 565040 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111478 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7252e59 1 564746 565169 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv40342,esv42157 M 6 0 2 "" NA12878 dgv7253e59 1 564856 565431 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv42046,esv40844,esv41096 M 6 0 4 "" NA12878,NA19240 esv42657 1 564863 565212 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112030 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7254e59 1 565105 565686 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv42185,esv41411 M 6 0 2 "" NA12878 dgv7255e59 1 565145 565540 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv40722,esv41370,esv41318 M 6 0 4 "" NA12878,NA19240 dgv7256e59 1 565253 565722 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv42550,esv41388 M 6 0 3 "" NA12878,NA19240 dgv7257e59 1 565257 565558 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv41770,esv40862 M 6 0 3 "" NA12878,NA19240 dgv7258e59 1 565279 565479 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv41657,esv40333 M 6 0 3 "" NA12878,NA19240 dgv7259e59 1 565344 565968 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv41640,esv41452,esv41655,esv41435,esv40791 M 6 0 8 "" NA12878,NA19240 esv41803 1 565430 565614 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112244,essv110591 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv40803 1 565466 565726 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111820 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv40059 1 565547 565744 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111024 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv42234 1 565733 566075 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111060 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv43575 1 565748 566263 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv40731 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7260e59 1 565798 566052 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv41828,esv42695 M 6 0 2 "" NA12878 esv41262 1 565872 566043 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111014 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7261e59 1 566039 566292 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv41999,esv40526 M 6 0 3 "" NA12878,NA19240 esv40783 1 566383 566821 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111234 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv39186 1 566414 566702 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121868 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv40515 1 566756 566958 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111272 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv43381 1 566900 567493 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv40622 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv38706 1 567265 567550 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121589,essv121350 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv42666 1 567637 567828 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111597 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv39201 1 567778 568122 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121989,essv121631 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 dgv7262e59 1 568359 568767 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43182,esv41958 M 6 0 3 "" NA12878 esv41467 1 568674 568966 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111832 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7263e59 1 568726 569317 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv42113,esv42160 M 6 0 3 "" NA12878,NA19240 esv40857 1 568881 569083 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110751 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv7264e59 1 568972 569280 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv40911,esv40742 M 6 0 2 "" NA12878,NA19240 esv41343 1 569113 569543 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111194 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7265e59 1 569411 569998 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv42183,esv43263,esv41991 M 6 0 5 "" NA12878,NA19240 dgv7266e59 1 569422 569707 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv38243,esv42572 M 6 0 2 "" NA12878 esv41244 1 569549 569727 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112177 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv42505 1 569549 569894 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111420,essv110711 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv42176 1 569656 569954 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112213,essv110693 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv40779 1 570015 570180 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112146,essv110797 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv36428 1 570188 580987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114405 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv37575 1 575788 579987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115323 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv831869 1 579492 743311 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443073,nssv1443295,nssv1443406,nssv1442851,nssv1443517,nssv1442740,nssv1442629,nssv1443184,nssv1442962,nssv1443628 M 95 8 2 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 esv165455 1 589388 594887 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160009 S 185 0 11 Samples from several populations that are part of the HapMap project. "" NA11830,NA12006,NA12154,NA12249,NA12763,NA18570,NA18576,NA18577,NA18593,NA18947,NA19005 esv36139 1 591088 593987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113125 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 esv36142 1 598788 602787 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116452 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 dgv7267e59 1 602688 606287 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36720,esv35364 M 6 0 2 "" NA19239,NA19240 esv37191 1 604188 611687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116160 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv43844 1 604588 609237 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37181 S 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv160103 1 604788 609687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv489557,essv433943,essv494000,essv451207,essv465521,essv450122,essv447098,essv429094,essv442443,essv442627,essv435282,essv472770,essv432235,essv454641,essv448411,essv471941,essv486131,essv485921,essv430045,essv456189,essv432757,essv475124,essv446376,essv476201,essv438248,essv439915,essv437873,essv440618,essv430670,essv492930,essv488096,essv453587,essv471405,essv441229,essv473718,essv449172,essv440845,essv446641,essv466878,essv461798,essv443107,essv458197,essv463602,essv491162,essv483838,essv468418,essv469799,essv433714,essv444393,essv460772,essv441456,essv467986,essv470400,essv490979,essv460171,essv478456,essv493734,essv430649,essv451617,essv478995,essv435475,essv433279,essv457552,essv452900,essv468821,essv488479,essv435026,essv470700,essv474942,essv482809,essv487902,essv495017,essv474236,essv474516,essv481722,essv453744,essv467811,essv477057,essv430241,essv431226,essv436837,essv438099,essv449449,essv465730,essv452333,essv455381,essv449611,essv488891,essv429711,essv436244,essv431458,essv473310,essv459471 M 185 0 93 Samples from several populations that are part of the HapMap project. "" NA06994,NA07037,NA10847,NA11830,NA11894,NA11919,NA11920,NA11931,NA12003,NA12004,NA12044,NA12045,NA12249,NA12287,NA12717,NA12776,NA12891,NA18489,NA18498,NA18501,NA18502,NA18505,NA18508,NA18510,NA18511,NA18517,NA18519,NA18522,NA18523,NA18537,NA18545,NA18547,NA18550,NA18558,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18593,NA18605,NA18853,NA18856,NA18858,NA18861,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18956,NA18960,NA18964,NA18965,NA18971,NA18976,NA18980,NA18981,NA19005,NA19093,NA19098,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19153,NA19159,NA19160,NA19190,NA19204,NA19207,NA19209,NA19225,NA19239,NA19240,NA19257 esv35533 1 610088 614387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116013 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 dgv6e188 1 610843 633689 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1847930,esv1821053 M 6 0 2 OR4F16,OR4F29,OR4F3 NA18576,NA18980 esv36232 1 615088 620387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116100 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv35990 1 618688 622087 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115963 S 6 0 1 Samples from several populations that are part of the HapMap project. OR4F16,OR4F29,OR4F3 NA19239 dgv7e1 1 632918 812484 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8112,essv4575,essv19551,essv5520,essv21546 M 271 0 0 FAM41C,LINC00115,LOC100133331,LOC100288069,LOC643837 NA12864,NA12873,NA18524,NA18529,NA19206 essv4734 1 632918 998289 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AGRN,C1orf170,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC100133331,LOC100288069,LOC643837,NOC2L,PLEKHN1,SAMD11 NA18620 esv1807624 1 666498 675004 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4373748 S 6 0 1 "" NA18517 esv37880 1 667288 673330 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121425 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12891 dgv7268e59 1 672388 676587 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36112,esv36290 M 6 0 2 "" NA12878,NA12891 nsv10161 1 712111 1708649 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28031,nssv28946,nssv26876,nssv24602,nssv26888,nssv28940,nssv21436,nssv26877,nssv28542,nssv28558,nssv28552,nssv24610,nssv28533,nssv26879,nssv28029,nssv28921,nssv21429,nssv21431,nssv24621,nssv26892,nssv28048,nssv24600,nssv21448,nssv28038,nssv26882,nssv18108 M 31 16 10 Samples from several populations that are part of the HapMap project. ACAP3,AGRN,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf70,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM41C,GLTPD1,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC100288069,LOC148413,LOC254099,LOC441869,LOC643837,LOC643988,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MRPL20,MXRA8,NADK,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 NA07048,NA10839,NA10863,NA12740,NA12872,NA18504,NA18537,NA18552,NA18564,NA18572,NA18972,NA19144,NA19173,NA19221 nsv508722 1 717919 744073 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619756 S 4 1 0 "" NA10860 nsv510950 1 717919 747342 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624357,nssv621648 M 4 0 0 "" NA15510,NA18994 esv41295 1 724087 724616 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111423 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv513729 1 724132 726937 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626981 S 1 1 0 "" 1 esv40983 1 724200 724489 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112786 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv1802008 1 724300 727037 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4395196 S 6 1 0 "" NA12239 esv1833679 1 724300 870310 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4394487 S 6 1 0 FAM41C,LINC00115,LOC100130417,LOC643837,SAMD11 NA10851 esv26272 1 724314 727245 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17593 S 451 0 4 "" NA11894,NA12006,NA12287,NA12828 nsv820807 1 724314 727245 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420291 S 1 1 0 "" NA10851 esv1809028 1 724519 727088 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4414097 S 6 0 1 "" NA18517 esv40508 1 724812 725036 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112366 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7e188 1 724849 1011897 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1849242,esv1847674,esv1797096,esv1847069 M 6 0 4 AGRN,C1orf170,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC643837,NOC2L,PLEKHN1,RNF223,SAMD11 NA12239,NA18980 esv41004 1 724935 725104 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112504 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv41839 1 726592 726765 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111905 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv40916 1 726691 726875 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111921 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv40298 1 726794 726963 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112043 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv1829332 1 727037 1005806 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4385597 S 6 1 0 AGRN,C1orf170,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC643837,NOC2L,PLEKHN1,SAMD11 NA15510 dgv1n67 1 746408 849937 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822808,nsv823919,nsv821697 M 31 4 0 FAM41C,LINC00115,LOC643837 NA18564,NA18947,NA18951,NA18972 dgv1e55 1 752566 799463 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34886,esv34681 M 771 2 0 LINC00115,LOC643837 NA18620,NA18947 essv2408 1 752566 1018704 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. AGRN,C1orf159,C1orf170,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC643837,NOC2L,PLEKHN1,RNF223,SAMD11 NA18976 nsv517709 1 752566 1211292 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688100,nssv669544,nssv700902,nssv662754,nssv660727,nssv668090,nssv680332,nssv658652,nssv670683,nssv681209,nssv667239,nssv662132,nssv677805,nssv691743,nssv652918,nssv677935,nssv654371,nssv657472,nssv683576 M 2026 18 1 AGRN,B3GALT6,C1orf159,C1orf170,FAM132A,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC254099,LOC643837,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 esv27271 1 754193 762622 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14965 S 451 1 0 LINC00115 NA18916 esv33946 1 754205 779756 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101171,essv96332 M 51 2 0 LINC00115,LOC643837 21618,22371 esv165964 1 754288 761087 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161150 S 185 0 6 Samples from several populations that are part of the HapMap project. "" NA12763,NA12776,NA18517,NA18976,NA18981,NA19159 esv42838 1 755859 758994 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123209 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv39370 1 755882 756171 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122276 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv166377 1 756044 758727 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163287 S 185 0 9 Samples from several populations that are part of the HapMap project. "" NA06986,NA10851,NA12716,NA18545,NA18552,NA18572,NA18573,NA18592,NA18952 esv1032937 1 756267 756267 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703690 S 2 1 0 "" HuRef esv38194 1 756329 758272 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122136 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv35265 1 760938 764387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114588 S 6 0 1 Samples from several populations that are part of the HapMap project. LINC00115,LOC643837 NA12878 dgv8e188 1 766101 809773 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1811602,esv1794054,esv1844874 M 6 3 0 FAM41C,LOC643837 NA12239,NA18517,NA18980 nsv442837 1 766101 809773 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM41C,LOC643837 esv43560 1 766594 769112 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv36992,esv38609,esv37512 M 6 0 3 Samples from several populations that are part of the HapMap project. LOC643837 NA19239 esv1829581 1 768448 870310 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4385741 S 6 1 0 FAM41C,LOC100130417,LOC643837,SAMD11 NA15510 nsv298 1 772399 792659 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3151 S 9 1 0 LOC643837 NA12878 nsv832980 1 783659 942417 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443740 S 95 1 0 C1orf170,FAM41C,HES4,KLHL17,LOC100130417,LOC643837,NOC2L,PLEKHN1,SAMD11 esv161381 1 788588 792887 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv487608,essv495086,essv469601,essv451488,essv482997,essv468365,essv481508,essv447188,essv440530,essv437882,essv456291,essv475246,essv430307,essv480156,essv455576,essv466415,essv490667,essv495524,essv460874,essv467073,essv490183,essv465247,essv441048,essv485881,essv442769,essv470326,essv432380,essv468752,essv472273,essv440265,essv460127,essv452450,essv457347,essv492446,essv435935,essv488414,essv451747 M 185 0 37 Samples from several populations that are part of the HapMap project. LOC643837 NA07051,NA07346,NA11831,NA11832,NA11919,NA11995,NA12006,NA12043,NA12155,NA12156,NA12414,NA12716,NA12750,NA12763,NA12776,NA12828,NA12892,NA18504,NA18522,NA18537,NA18564,NA18582,NA18592,NA18603,NA18871,NA18943,NA18960,NA18961,NA18971,NA18973,NA18976,NA18981,NA19152,NA19200,NA19204,NA19209,NA19240 esv1517733 1 789021 789070 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242314 S 2 0 1 LOC643837 HuRef esv161333 1 789738 792237 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485552,essv461633,essv458537,essv479987,essv471679,essv465264,essv476299,essv492318 M 185 0 8 Samples from several populations that are part of the HapMap project. LOC643837 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv508924 1 789759 820329 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619757 S 4 1 0 FAM41C NA10860 esv162840 1 801817 802433 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv514306,essv522434,essv520476,essv517605,essv499737,essv501341,essv512048,essv522968,essv497988,essv504532,essv496974,essv529270,essv532020,essv527361,essv537472,essv526519,essv503337,essv517682,essv515154,essv505635,essv503756,essv513767,essv499327,essv519589,essv505201 M 185 0 25 Samples from several populations that are part of the HapMap project. "" NA07051,NA11831,NA11894,NA12156,NA18501,NA18502,NA18505,NA18507,NA18511,NA18523,NA18853,NA18858,NA18870,NA18907,NA18916,NA18943,NA18948,NA18949,NA18951,NA19102,NA19108,NA19114,NA19147,NA19190,NA19257 esv1069885 1 802251 802251 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978908 S 2 1 0 "" HuRef nsv428334 1 809751 1155949 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450908 S 62 1 0 AGRN,C1orf159,C1orf170,FAM41C,HES4,ISG15,KLHL17,LOC100130417,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10 HGDP00467 esv160462 1 810313 812862 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv462277,essv485053,essv470810,essv491353,essv458547,essv479772,essv464272,essv476193 M 185 0 8 Samples from several populations that are part of the HapMap project. FAM41C NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35207 1 810488 812887 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116091,essv115674 M 6 0 2 Samples from several populations that are part of the HapMap project. FAM41C NA19239,NA19240 esv38315 1 811015 812495 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123005 S 6 0 1 Samples from several populations that are part of the HapMap project. FAM41C NA19240 esv991325 1 811077 811838 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564868 S 3 1 0 FAM41C HuRef dgv2n67 1 812998 1361880 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825030,nsv826141 M 31 2 0 ACAP3,AGRN,AURKAIP1,B3GALT6,C1orf159,C1orf170,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,HES4,ISG15,KLHL17,LOC100130417,LOC148413,LOC254099,LOC441869,MIR200A,MIR200B,MIR429,MRPL20,MXRA8,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 NA18968,NA18969 esv1818191 1 815285 1021629 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4421519 S 6 1 0 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC100130417,NOC2L,PLEKHN1,RNF223,SAMD11 NA18576 esv38152 1 815373 815697 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121818 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv165892 1 815491 815573 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164710 S 185 0 5 Samples from several populations that are part of the HapMap project. "" NA11995,NA18858,NA18909,NA18956,NA19190 esv165381 1 818010 818116 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv548744,essv548256,essv543652,essv548060 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA11995,NA18555,NA19108,NA19129 esv42961 1 820752 820905 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv122905 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv165010 1 823816 823922 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv550794,essv547737,essv546938,essv541891 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA07000,NA18501,NA18561,NA19093 esv42041 1 824881 825115 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112752 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv41078 1 824992 825103 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110707 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv509035 1 826786 921104 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619758,nssv621079 M 4 2 0 C1orf170,KLHL17,LOC100130417,NOC2L,PLEKHN1,SAMD11 NA10860,NA15510 esv1824617 1 835650 1701679 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4423186 S 6 1 0 ACAP3,AGRN,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf70,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,GLTPD1,HES4,ISG15,KLHL17,LOC100130417,LOC148413,LOC254099,LOC441869,LOC643988,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MRPL20,MXRA8,NADK,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 NA18576 esv39446 1 839774 840112 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv118315,essv117216 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv1493e59 1 842913 846462 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160561,esv160387 M 185 0 70 "" NA06994,NA07346,NA11830,NA11832,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12287,NA12717,NA12749,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005,NA19257 esv37138 1 843188 846887 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113547,essv114155,essv115837,essv113307,essv114988,essv115301 M 6 0 6 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv161382 1 844313 846862 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv480326,essv470893,essv485509,essv458962,essv461206,essv492362,essv475667,essv464599 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1562509 1 844600 844866 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716763 S 2 0 1 "" HuRef esv160095 1 847713 850262 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv479646,essv492690,essv475504,essv465324,essv471193,essv458400,essv461647,essv485005 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1846357 1 854250 870310 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4408814 S 6 0 1 LOC100130417,SAMD11 NA18980 esv161708 1 858513 861262 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492501,essv458488,essv471258,essv485090,essv462005,essv464762,essv480527,essv476334 M 185 0 8 Samples from several populations that are part of the HapMap project. SAMD11 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37562 1 858513 861437 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113217,essv113986 M 6 0 2 Samples from several populations that are part of the HapMap project. SAMD11 NA12878,NA19238 esv159596 1 859613 862462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484580,essv461629,essv459262,essv479472,essv464250,essv471096,essv492521,essv476453 M 185 0 8 Samples from several populations that are part of the HapMap project. SAMD11 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160957 1 868313 871662 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458984,essv471309,essv485651,essv480123,essv461730,essv464949,essv476380,essv491938 M 185 0 8 Samples from several populations that are part of the HapMap project. SAMD11 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv159820 1 869138 870837 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv432916,essv468609,essv453885,essv488976,essv476755,essv479293,essv477242,essv436212,essv463986,essv437146,essv484033,essv431718,essv462444,essv490790,essv456140,essv483193,essv474707,essv493400,essv436390,essv493884,essv448865,essv442317,essv486650,essv472520,essv460605,essv429089,essv434238,essv494302,essv473883,essv438498,essv471910,essv443223,essv443793,essv458214,essv434852,essv444809,essv466506,essv484452,essv439022,essv456245,essv495745,essv482374,essv477785,essv446402,essv470106,essv480747,essv457046,essv447723,essv463515,essv467312,essv478444,essv439739,essv449875,essv489441,essv469332,essv453413,essv450829,essv432137,essv465895,essv441705,essv430941,essv454943,essv448433,essv492493,essv486972 M 185 0 65 Samples from several populations that are part of the HapMap project. SAMD11 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 dgv1494e59 1 869244 870317 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv162451,esv166130 M 185 0 25 SAMD11 NA06986,NA07051,NA11920,NA12045,NA12155,NA12249,NA12878,NA18550,NA18552,NA18555,NA18638,NA18942,NA18961,NA18964,NA18973 nsv511670 1 869251 870860 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626307 S 1 0 1 SAMD11 1 esv43797 1 869295 870367 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv36433,esv39164,esv39003,esv38121,esv38527 M 6 0 14 Samples from several populations that are part of the HapMap project. SAMD11 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv27608 1 869310 870347 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10036 S 451 24 12 SAMD11 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 esv989364 1 869415 870347 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586109 S 3 0 1 SAMD11 HuRef esv1803513 1 869443 879687 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4409700 S 6 0 1 NOC2L,SAMD11 NA12239 dgv9e188 1 869443 964438 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1846838,esv1844894,esv1849818,esv1848747,esv1844570,esv1846032,esv1850578 M 6 0 7 AGRN,C1orf170,HES4,ISG15,KLHL17,NOC2L,PLEKHN1,SAMD11 NA18980 esv1831351 1 869443 964438 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4402006 S 6 1 0 AGRN,C1orf170,HES4,ISG15,KLHL17,NOC2L,PLEKHN1,SAMD11 NA15510 esv1732269 1 869471 869583 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110931 S 2 0 1 SAMD11 HuRef esv1062785 1 869596 870324 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275138 S 2 0 1 SAMD11 HuRef esv1849090 1 869603 1011493 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4384362 S 6 0 1 AGRN,C1orf170,HES4,ISG15,KLHL17,NOC2L,PLEKHN1,RNF223,SAMD11 NA18980 esv2066434 1 871493 871867 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643302 S 1 0 1 SAMD11 NA18507 esv42840 1 871607 871854 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123312 S 6 0 1 Samples from several populations that are part of the HapMap project. SAMD11 NA12878 esv164652 1 874834 874956 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv544323,essv549152,essv545799 M 185 0 3 Samples from several populations that are part of the HapMap project. SAMD11 NA19099,NA19137,NA19257 esv160857 1 876113 878962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484645,essv475980,essv470949,essv479794,essv465373,essv459282,essv462186,essv491251 M 185 0 8 Samples from several populations that are part of the HapMap project. SAMD11 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35776 1 876988 879087 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114253 S 6 0 1 Samples from several populations that are part of the HapMap project. SAMD11 NA12878 esv160744 1 883488 887987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv495096,essv483205,essv470307,essv449236,essv446164 M 185 0 5 Samples from several populations that are part of the HapMap project. NOC2L NA10847,NA11994,NA18522,NA18537,NA18972 dgv7269e59 1 884188 887187 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36200,esv35631 M 6 0 2 NOC2L NA19239,NA19240 esv42268 1 885495 885749 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111857 S 6 0 1 Samples from several populations that are part of the HapMap project. NOC2L NA12878 esv160487 1 894113 896962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv479616,essv459061,essv465031,essv485557,essv470990,essv461547,essv492612,essv475990 M 185 0 8 Samples from several populations that are part of the HapMap project. KLHL17,NOC2L NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv7270e59 1 894288 897687 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37433,esv37220 M 6 0 2 KLHL17,NOC2L NA19239 nsv482036 1 895967 901095 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558397 S 1 1 0 KLHL17 KB1 esv159603 1 898913 901462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458480,essv461867,essv484944,essv464644,essv471806,essv479960,essv492559,essv475411 M 185 0 8 Samples from several populations that are part of the HapMap project. KLHL17 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv162757 1 899931 900258 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv506406,essv513293 M 185 0 2 Samples from several populations that are part of the HapMap project. KLHL17 NA18542,NA18571 esv1003697 1 900011 900085 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3568238 S 3 0 1 KLHL17 HuRef nsv159315 1 900149 900224 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177893 M 24 KLHL17 esv160988 1 902788 907187 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv469370,essv468191,essv464465,essv474212,essv470230 M 185 0 5 Samples from several populations that are part of the HapMap project. PLEKHN1 NA11832,NA11919,NA18537,NA18592,NA18605 esv35641 1 903488 906387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116332 S 6 0 1 Samples from several populations that are part of the HapMap project. PLEKHN1 NA19239 esv161152 1 903938 906437 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471699,essv491247,essv479955,essv461894,essv458348,essv476074,essv485498,essv465269 M 185 0 8 Samples from several populations that are part of the HapMap project. PLEKHN1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1001028 1 911055 913734 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565170 S 3 1 0 C1orf170 HuRef esv160847 1 911113 914662 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491207,essv484936,essv479910,essv458436,essv464326,essv471896,essv461220,essv475991 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf170 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37176 1 911438 914587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113434,essv115392,essv115027,essv115911,essv113992 M 6 0 5 Samples from several populations that are part of the HapMap project. C1orf170 NA12878,NA12892,NA19238,NA19239,NA19240 esv161688 1 911638 914087 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv457334,essv467697,essv477491,essv442440,essv469967,essv448692,essv462497,essv492831,essv472068,essv431672,essv453050,essv450707,essv431124,essv479015,essv468987,essv429092,essv445012,essv433255,essv456144,essv473855,essv449856,essv457996,essv484153,essv478015,essv490575,essv446746,essv495700,essv466383,essv439025,essv434794,essv443278,essv482288,essv444099,essv478320,essv441876,essv448099,essv494206,essv432513,essv472884,essv474957,essv447590,essv488784,essv489927,essv454644,essv493262,essv435978,essv460478,essv483595,essv438666,essv465761,essv436296,essv487450,essv486346,essv439939,essv494394,essv463510,essv463968,essv434107,essv469042,essv480924,essv437006,essv453867,essv484296,essv456372,essv476517 M 185 0 65 Samples from several populations that are part of the HapMap project. C1orf170 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv1165796 1 912278 913308 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038215 S 2 0 1 C1orf170 HuRef esv40417 1 923396 923731 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111442 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv42776 1 924252 924451 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123247 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv41701 1 928243 928456 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111305 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv42580 1 928422 928582 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111987 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv997839 1 928681 930764 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565560 S 3 0 1 "" HuRef dgv7271e59 1 931584 931814 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv42655,esv41565 M 6 0 2 "" NA12878,NA19240 esv41587 1 931651 931891 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110800 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv159328 1 931665 931730 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177906 M 24 "" esv1776849 1 931780 931780 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713900 S 2 1 0 "" HuRef nsv159419 1 931981 932111 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177997 M 24 "" esv42990 1 932029 932290 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123134 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv161427 1 933113 935962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458337,essv464946,essv461744,essv485257,essv470838,essv479999,essv476473,essv491955 M 185 0 8 Samples from several populations that are part of the HapMap project. HES4 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36505 1 933888 936212 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114606,essv113142 M 6 0 2 Samples from several populations that are part of the HapMap project. HES4 NA12878,NA19238 nsv827252 1 934105 936507 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436318 S 31 1 0 HES4 NA18542 nsv828363 1 944680 948776 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434856,nssv1436320 M 31 1 1 "" NA18542,NA18942 nsv509146 1 945890 1046568 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621080,nssv619759 M 4 2 0 AGRN,C1orf159,ISG15,RNF223 NA10860,NA15510 esv42456 1 948057 948472 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110661 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv1495e59 1 953913 957462 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161385,esv161734 M 185 0 16 AGRN NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35710 1 954538 956837 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116356,essv115396 M 6 0 2 Samples from several populations that are part of the HapMap project. AGRN NA19239,NA19240 esv1842974 1 959842 964438 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4412735 S 6 0 1 AGRN NA18980 esv41832 1 962193 962656 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112166 S 6 0 1 Samples from several populations that are part of the HapMap project. AGRN NA12878 esv29017 1 963659 964480 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19930 S 451 0 6 AGRN NA11931,NA12044,NA12414,NA12749,NA12776,NA19240 esv43240 1 963775 964574 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39333,esv39810,esv38887 M 6 0 5 Samples from several populations that are part of the HapMap project. AGRN NA19239,NA19240 esv987912 1 963820 964480 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586137 S 3 0 1 AGRN HuRef esv4415 1 963838 964567 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26856 S 1 0 1 Single Asian sample YH AGRN YH esv165477 1 963872 964481 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163903,esv162990,esv162600 M 185 0 37 Samples from several populations that are part of the HapMap project. AGRN NA06986,NA11919,NA11995,NA12749,NA12763,NA18570,NA18571,NA18573,NA18576,NA18577,NA18582,NA18856,NA18861,NA18912,NA18947,NA18980,NA19240 dgv7272e59 1 964088 967987 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35627,esv35559 M 6 0 2 AGRN NA19239,NA19240 esv6517 1 964981 965488 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28958 S 1 0 1 AGRN SJK esv1064309 1 965995 965995 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670093 S 2 1 0 AGRN HuRef esv160548 1 967913 970462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485659,essv465358,essv480039,essv459106,essv470795,essv475434,essv462305,essv492392 M 185 0 8 Samples from several populations that are part of the HapMap project. AGRN NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35939 1 968138 970137 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115876,essv114193 M 6 0 2 Samples from several populations that are part of the HapMap project. AGRN NA12878,NA19239 esv160526 1 968688 969837 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv433137,essv489543,essv433811,essv465850,essv478243,essv437177,essv454132,essv435956,essv450143,essv488775,essv460505,essv452989,essv494427,essv468662,essv441799,essv470401,essv447209,essv462794,essv482057,essv442332,essv477069,essv463740,essv472550,essv486524,essv434416,essv458114,essv466390,essv477573,essv446938,essv456801,essv444950,essv484215,essv444139,essv442982,essv439514,essv495461,essv485434,essv490672,essv448354,essv432469,essv456935,essv454435,essv474191,essv455864,essv462965,essv448636,essv469543,essv480890,essv431918,essv439908,essv486976,essv431183,essv477122,essv438411,essv467739,essv474783,essv479192,essv429605,essv493765,essv493137,essv492426,essv472212,essv436656,essv450803 M 185 0 64 Samples from several populations that are part of the HapMap project. AGRN NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 dgv1496e59 1 975113 978462 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160404,esv161552 M 185 0 16 AGRN NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35922 1 975713 977812 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113240,essv114518 M 6 0 2 Samples from several populations that are part of the HapMap project. AGRN NA12878,NA19238 esv35354 1 983788 985637 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114027 S 6 0 1 Samples from several populations that are part of the HapMap project. AGRN NA12878 esv161479 1 985688 990187 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv456941,essv442140,essv472292,essv447877,essv482349,essv446051,essv490037,essv473079,essv451387,essv486851,essv438015,essv487580,essv492833,essv469860 M 185 0 14 Samples from several populations that are part of the HapMap project. AGRN NA07347,NA11920,NA11993,NA11994,NA12750,NA12828,NA18526,NA18537,NA18961,NA18973,NA18976,NA19005,NA19152,NA19159 esv43644 1 988573 988623 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv41171 S 6 0 1 Samples from several populations that are part of the HapMap project. AGRN NA19240 esv161077 1 989588 994087 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv439597,essv446223,essv449381,essv457045,essv462963,essv446163,essv487724,essv453581,essv429948,essv480689,essv437991,essv451515,essv481222,essv485609,essv442759,essv489249,essv454955,essv487547,essv492100,essv439906,essv431599,essv437545 M 185 0 22 Samples from several populations that are part of the HapMap project. AGRN NA11994,NA11995,NA12154,NA12249,NA12750,NA12891,NA18517,NA18520,NA18523,NA18603,NA18609,NA18871,NA18940,NA18953,NA18961,NA18967,NA18973,NA18981,NA19138,NA19152,NA19171,NA19201 nsv829425 1 991422 993857 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434857 S 31 0 1 AGRN NA18942 esv160563 1 993713 996262 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv480485,essv458757,essv485106,essv471006,essv464577,essv462228,essv491832,essv475415 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160772 1 999113 1001962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464768,essv458527,essv491444,essv476371,essv462161,essv484832,essv480302,essv471161 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36126 1 999538 1001687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113329,essv114611,essv115239,essv113523 M 6 0 4 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv161390 1 1000038 1001287 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv483174,essv449881,essv494634,essv470258,essv477311,essv439101,essv455770,essv454017,essv442382,essv479118,essv467468,essv481042,essv438669,essv493490,essv444052,essv452821,essv491550,essv465981,essv495625,essv433157,essv436491,essv434105,essv440145,essv429546,essv431044,essv489800,essv443057,essv478006,essv456831,essv490774,essv444719,essv466394,essv485452,essv481811,essv457836,essv446759,essv434597,essv472274,essv472710,essv493904,essv457410,essv474971,essv460640,essv447234,essv486691,essv441833,essv450634,essv478689,essv432456,essv487134,essv437042,essv462645,essv448848,essv435979,essv463913,essv469155,essv474094,essv431893,essv462972,essv468497,essv454455,essv488837,essv448137,essv483714,essv476811 M 185 0 65 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv160170 1 1003113 1005962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464657,essv476036,essv480157,essv459074,essv461445,essv485148,essv470822,essv492814 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35898 1 1003438 1005637 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116193,essv114680 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA19239 esv161726 1 1004088 1005187 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv453904,essv460378,essv454762,essv486300,essv477519,essv448429,essv438240,essv465933,essv463076,essv478231,essv487345,essv462383,essv484109,essv478117,essv447247,essv448740,essv431795,essv474973,essv485418,essv489794,essv488811,essv494563,essv468428,essv467330,essv450784,essv464093,essv469538,essv494190,essv452804,essv439310,essv456394,essv445102,essv434358,essv490303,essv458031,essv443162,essv446818,essv466694,essv444051,essv441627,essv471975,essv492647,essv432594,essv469989,essv457388,essv493044,essv481057,essv429391,essv436562,essv437268,essv439879,essv483606,essv476867,essv433843 M 185 0 54 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11995,NA12004,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18609,NA18940,NA18942,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981 nsv470680 1 1005806 1314015 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547648,nssv547649,nssv547650 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACAP3,AURKAIP1,B3GALT6,C1orf159,CPSF3L,DVL1,FAM132A,GLTPD1,LOC254099,MIR200A,MIR200B,MIR429,MXRA8,PUSL1,RNF223,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 HGDP00661,HGDP00825,HGDP00978 esv161484 1 1006313 1008862 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458636,essv491760,essv475535,essv464367,essv471759,essv484963,essv480030,essv461977 M 185 0 8 Samples from several populations that are part of the HapMap project. RNF223 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv43278 1 1010688 1014762 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv36526,esv39923 M 6 0 7 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv25577 1 1011188 1014828 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14645 S 451 1 11 "" NA11993,NA12489,NA12878,NA18502,NA18511,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19240 esv998069 1 1011248 1014683 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586245 S 3 1 0 "" HuRef esv166071 1 1011388 1014937 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161626,esv161414 M 185 0 60 Samples from several populations that are part of the HapMap project. "" NA06994,NA07346,NA11830,NA11832,NA11881,NA11993,NA11995,NA12004,NA12043,NA12044,NA12144,NA12156,NA12287,NA12717,NA12749,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18572,NA18576,NA18592,NA18593,NA18605,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18967,NA18972,NA18973,NA18975,NA18976,NA18980,NA19005,NA19257 esv159834 1 1014313 1016862 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484385,essv475975,essv491863,essv471654,essv479691,essv459073,essv465134,essv461286 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161284 1 1022513 1025062 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491635,essv471154,essv459412,essv461449,essv485018,essv465017,essv476070,essv480289 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf159 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36044 1 1022688 1024812 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113326,essv114448 M 6 0 2 Samples from several populations that are part of the HapMap project. C1orf159 NA12878,NA19238 esv161706 1 1023238 1024287 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv447761,essv455875,essv441995,essv438718,essv437109,essv454144,essv434309,essv463880,essv489590,essv493563,essv431015,essv474941,essv490258,essv470328,essv486829,essv431495,essv472675,essv436388,essv478206,essv481059,essv473770,essv452881,essv457282,essv448496,essv463422,essv476893,essv469434,essv446605,essv439142,essv456870,essv444857,essv481897,essv484232,essv477893,essv443244,essv484707,essv444156,essv434600,essv429264,essv433022,essv479244,essv460603,essv494237,essv432328,essv441612,essv472297,essv465689,essv477178,essv491503,essv467670,essv488781,essv468771,essv494731,essv450000,essv454443,essv466575,essv440280,essv448597,essv487250,essv436242,essv483321,essv462861 M 185 0 62 Samples from several populations that are part of the HapMap project. C1orf159 NA06994,NA11881,NA11993,NA11995,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 nsv1409 1 1030851 1060065 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4677 S 9 1 0 C1orf159 NA19129 esv161338 1 1032388 1037187 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv463569,essv474039,essv456956,essv429597,essv450957,essv483410,essv439125,essv453208,essv489098,essv495580,essv442733,essv477857,essv432122,essv441405,essv466210,essv450449,essv452130,essv443548,essv482239,essv490512,essv447797,essv453456,essv489313,essv437258,essv447078,essv436057,essv455223,essv429662,essv440169,essv434587,essv494594 M 185 0 31 Samples from several populations that are part of the HapMap project. C1orf159 NA07347,NA10851,NA11881,NA11894,NA11992,NA11993,NA12006,NA12043,NA12045,NA12144,NA12156,NA12489,NA12813,NA12891,NA18520,NA18550,NA18552,NA18561,NA18563,NA18564,NA18593,NA18603,NA18605,NA18943,NA18964,NA18972,NA18973,NA18981,NA19102,NA19190,NA19209 esv160064 1 1033138 1035937 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458616,essv485919,essv491486,essv480379,essv464787,essv471081,essv475499,essv461708 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf159 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv7273e59 1 1033288 1036387 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35957,esv36739 M 6 0 2 C1orf159 NA19238,NA19240 esv1010559 1 1034408 1035203 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586664 S 3 1 0 C1orf159 HuRef esv23529 1 1034408 1035203 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10745 S 451 24 0 C1orf159 NA06985,NA12414,NA12749,NA12776,NA12828,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv43271 1 1034704 1035042 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39885 S 6 0 1 Samples from several populations that are part of the HapMap project. C1orf159 NA19240 esv1281251 1 1035015 1035015 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028372 S 2 1 0 C1orf159 HuRef esv160110 1 1041388 1045987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv455524,essv440587,essv487787,essv430433,essv459870,essv437504,essv460078,essv449510,essv458095,essv456413,essv452334,essv492896,essv473286,essv450415,essv468237,essv479591,essv446005,essv475297,essv445298,essv472153,essv478945,essv442240,essv487556,essv457233,essv490076 M 185 0 25 Samples from several populations that are part of the HapMap project. C1orf159 NA07346,NA11919,NA11920,NA11931,NA11992,NA11994,NA12004,NA12155,NA12414,NA12763,NA12776,NA12828,NA12878,NA18517,NA18547,NA18582,NA18953,NA18973,NA18976,NA19005,NA19138,NA19152,NA19160,NA19238,NA19240 esv42839 1 1044128 1044538 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123283 S 6 0 1 Samples from several populations that are part of the HapMap project. C1orf159 NA12878 nsv160439 1 1044215 1044525 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179017 M 24 C1orf159 esv161592 1 1049913 1052962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475632,essv492020,essv485619,essv461837,essv464672,essv471234,essv479467,essv458779 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf159 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35880 1 1050063 1053012 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115860,essv114315,essv113416,essv115164 M 6 0 4 Samples from several populations that are part of the HapMap project. C1orf159 NA12878,NA12892,NA19238,NA19239 esv159568 1 1051313 1053862 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461356,essv465346,essv491807,essv471210,essv485590,essv479499,essv458941,essv475457 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf159 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv32594 1 1051688 1051826 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92767,essv96399 M 51 0 2 C1orf159 21944,22371 esv1818803 1 1054097 1321310 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4421425 S 6 1 0 ACAP3,AURKAIP1,B3GALT6,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,LOC254099,MIR200A,MIR200B,MIR429,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 NA18576 esv163126 1 1054365 1054623 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv527474,essv507130,essv523485 M 185 0 3 Samples from several populations that are part of the HapMap project. "" NA11918,NA11920,NA12003 esv165540 1 1056888 1061687 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv159848 S 185 0 6 Samples from several populations that are part of the HapMap project. "" NA11831,NA11919,NA11992,NA18603,NA18853,NA18961 dgv1497e59 1 1057738 1060837 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161336,esv161502 M 185 0 16 "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv160193 1 1058914 1058993 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178771 M 24 "" esv39483 1 1069491 1070638 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123034 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv160012 1 1071313 1074062 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492525,essv461587,essv480315,essv470775,essv464560,essv485034,essv475394,essv458727 M 185 0 8 Samples from several populations that are part of the HapMap project. LOC254099 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv2630187 1 1073076 1076966 CNV Loss McKernan_et_al_2009 19546169 Sequencing Not specified essv5357752 S 1 0 1 LOC254099 NA18507 esv26506 1 1074379 1076117 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13049 S 451 17 0 LOC254099 NA11894,NA12287,NA12414,NA12489,NA12749,NA15510,NA18502,NA18508,NA18517,NA18858,NA18861,NA18909,NA19099,NA19129,NA19147,NA19225,NA19257 esv36004 1 1074713 1077262 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114846,essv115042,essv113645,essv115602 M 6 0 4 Samples from several populations that are part of the HapMap project. LOC254099 NA12878,NA12891,NA12892,NA19240 nsv161017 1 1075907 1076089 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179595 M 24 LOC254099 esv160163 1 1076138 1077587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv444621,essv454919,essv477194,essv448702,essv460721,essv456119,essv494048,essv432510,essv463842,essv478854,essv486459,essv478305,essv444094,essv454165,essv474303,essv434799,essv457833,essv442210,essv436215,essv463071,essv438453,essv476963,essv465819,essv429531,essv450093,essv431243,essv474799,essv450995,essv443357,essv456280,essv482287,essv495501,essv439255,essv466340,essv483953,essv446436,essv485348,essv490289,essv494699,essv487129,essv456928,essv489847,essv453301,essv440192,essv483328,essv488699,essv472617,essv469258,essv493144,essv448547,essv433824,essv468850,essv472405,essv480810,essv437061,essv441770,essv447397,essv436786,essv432858,essv477645,essv431814,essv467581,essv491772,essv462419,essv469997 M 185 0 65 Samples from several populations that are part of the HapMap project. LOC254099 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 nsv469848 1 1081462 1257615 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649869 M 265 12 Samples from several populations that are part of the HapMap project. ACAP3,B3GALT6,CPSF3L,FAM132A,MIR200A,MIR200B,MIR429,PUSL1,SCNN1D,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 dgv1498e59 1 1082472 1082844 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv165773,esv162721 M 185 0 10 "" NA18501,NA18502,NA18522,NA18909,NA19099,NA19257 esv2524046 1 1083767 1088804 CNV Loss McKernan_et_al_2009 19546169 Sequencing Not specified essv5287439 S 1 0 1 "" NA18507 esv2587289 1 1084823 1090940 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5220272 S 1 0 1 "" NA18507 esv2317109 1 1086650 1087181 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717325 S 1 0 1 "" NA18507 esv165703 1 1086818 1087023 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163388,esv163703,esv161925,esv163237,esv165097 M 185 0 49 Samples from several populations that are part of the HapMap project. "" NA11918,NA11992,NA18486,NA18498,NA18501,NA18502,NA18504,NA18507,NA18520,NA18522,NA18858,NA18861,NA18907,NA18909,NA19093,NA19099,NA19116,NA19138,NA19144,NA19153,NA19190,NA19225 nsv509257 1 1087335 1124850 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619760 S 4 1 0 MIR200A,MIR200B,MIR429,TTLL10 NA10860 esv43004 1 1088529 1089003 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123222 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160358 1 1092338 1093487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471926,essv450632,essv477557,essv455842,essv450205,essv494534,essv478477,essv470096,essv462854,essv474264,essv445023,essv437241,essv489930,essv477405,essv493279,essv431929,essv483481,essv457223,essv493985,essv443186,essv467399,essv448200,essv484130,essv479181,essv480826,essv434195,essv436187,essv453057,essv444023,essv485476,essv446451,essv456561,essv482050,essv434582,essv458016,essv495217,essv466679,essv472828,essv442021,essv460649,essv488909,essv486530,essv440136,essv433292,essv454652,essv475095,essv432512,essv441702,essv438793,essv463795,essv448630,essv436591,essv469040,essv477030,essv465638,essv431087,essv463059,essv491717,essv468619,essv447469,essv429114,essv487434,essv439380,essv490439 M 185 0 64 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 nsv482937 1 1093942 1293942 CNV Loss Iafrate et al 2004 15286789 BAC_aCGH,FISH Spectral Genomics 2600 BAC array nssv650848 M 0 0 Twenty samples were obtained from normal individuals whose DNA are stored at the Coriell Cell Repository (Camden, New Jersey) with the following ethnic representation: 10 European/Caucasian, 4 Native American, 2 Chinese, 2 Indo-Pakistani, and 2 Sub-Saharan African. Twelve samples were from fixed cell pellets of cytogenetically normal individuals from the Brigham and Women's Cytogenetics Laboratory and 7 samples from cytogenetically normal individuals were obtained from the Hospital for Sick Children. ACAP3,B3GALT6,CPSF3L,DVL1,FAM132A,GLTPD1,MIR200A,MIR200B,MIR429,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 esv163491 1 1105654 1106051 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv522042,essv507070 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA06986,NA12003 nsv829536 1 1112147 1113089 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436321 S 31 1 0 TTLL10 NA18542 esv161692 1 1117313 1119862 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492284,essv479915,essv464745,essv458375,essv471467,essv485196,essv461877,essv475645 M 185 0 8 Samples from several populations that are part of the HapMap project. TTLL10 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37656 1 1118988 1121387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113344 S 6 0 1 Samples from several populations that are part of the HapMap project. TTLL10 NA19238 esv1806824 1 1119858 1138111 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4385543 S 6 0 1 TTLL10 NA18517 esv36494 1 1131288 1134487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116458 S 6 0 1 Samples from several populations that are part of the HapMap project. TTLL10 NA19239 esv160810 1 1131613 1134462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475427,essv480129,essv471341,essv462131,essv484701,essv459017,essv465008,essv492107 M 185 0 8 Samples from several populations that are part of the HapMap project. TTLL10 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv10e188 1 1135242 1138111 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1846250,esv1844342,esv1850396 M 6 0 3 "" NA18980 esv161389 1 1135613 1138462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv459190,essv471632,essv464255,essv480072,essv461630,essv485591,essv476180,essv492785 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36330 1 1136188 1138987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116071 S 6 0 1 Samples from several populations that are part of the HapMap project. TNFRSF18 NA19239 esv24081 1 1137003 1138283 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14081 S 451 8 0 "" NA18511,NA18523,NA18861,NA18907,NA18909,NA19099,NA19147,NA19190 esv1798687 1 1137126 1152631 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4384891 S 6 0 1 SDF4,TNFRSF18,TNFRSF4 NA12239 esv9332 1 1142708 1143139 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31773 S 1 0 1 "" SJK esv165824 1 1142720 1143140 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160984,esv162017,esv162159,esv161797,esv161806,esv165336 M 185 0 131 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11894,NA11918,NA11995,NA12249,NA12287,NA12749,NA12828,NA18526,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18603,NA18608,NA18609,NA18638,NA18940,NA18942,NA18943,NA18944,NA18947,NA18949,NA18951,NA18953,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18973,NA18974,NA18976,NA19005,NA19257 nsv455661 1 1152631 1211292 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533179 S 1557 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 1782681247_A nsv159887 1 1153093 1157960 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178465 M 24 SDF4 esv160838 1 1156188 1160487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv466637,essv470660,essv483443,essv449544,essv487535,essv480624,essv456484,essv474838,essv446129,essv460194,essv470995,essv459898,essv450462,essv468323,essv439861,essv482629,essv478627,essv451740,essv437713,essv482789,essv463165,essv462061 M 185 0 22 Samples from several populations that are part of the HapMap project. SDF4 NA11830,NA11919,NA11992,NA11994,NA12043,NA12287,NA12763,NA12878,NA18558,NA18579,NA18609,NA18853,NA18947,NA18953,NA18960,NA18967,NA18972,NA18981,NA19138,NA19152,NA19172,NA19240 esv159972 1 1157138 1159637 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491716,essv484629,essv464443,essv470753,essv459274,essv461661,essv480294,essv476399 M 185 0 8 Samples from several populations that are part of the HapMap project. SDF4 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1792889 1 1158182 1178925 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human1Mv1 DNA Analysis BeadChip essv4382295 S 6 1 0 B3GALT6,FAM132A,SDF4 NA12239 esv160206 1 1161513 1164062 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485157,essv471527,essv491628,essv476504,essv479468,essv458321,essv465362,essv461253 M 185 0 8 Samples from several populations that are part of the HapMap project. SDF4 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv39710 1 1161563 1161939 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122575 S 6 0 1 Samples from several populations that are part of the HapMap project. SDF4 NA19239 esv39719 1 1162573 1163022 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122389 S 6 0 1 Samples from several populations that are part of the HapMap project. SDF4 NA19239 esv166335 1 1162673 1162817 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163905,esv162786 M 185 0 46 Samples from several populations that are part of the HapMap project. SDF4 NA07357,NA10851,NA12489,NA18501,NA18502,NA18508,NA18511,NA18537,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18592,NA18593,NA18605,NA18856,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18951,NA18956,NA19257 esv43142 1 1162673 1162846 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37911 S 6 0 1 Samples from several populations that are part of the HapMap project. SDF4 NA19239 nsv821698 1 1164350 1169770 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433403 S 31 1 0 B3GALT6,SDF4 NA18526 esv161554 1 1165588 1170087 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv454885,essv455326,essv437336,essv431848,essv437592,essv442807,essv484260,essv474033,essv439652,essv482657,essv474823,essv472979,essv483588,essv433688,essv487747,essv429990,essv467022,essv447208,essv466757,essv469177,essv489854,essv449554,essv495153,essv429704,essv463201,essv487946,essv451560,essv451346,essv429479,essv451229,essv454289,essv459874,essv438153,essv448775,essv438378,essv472193,essv466095,essv432312,essv482928,essv430697,essv440657,essv465301,essv451985,essv460888,essv446467,essv473664,essv445742,essv439469,essv475128,essv479818,essv491076,essv450375,essv488235,essv455461,essv473043,essv435107,essv481517,essv443750,essv449273,essv468311,essv482002,essv457746,essv447858,essv451935,essv443037,essv459693,essv445970,essv461464,essv481391,essv459561,essv432826,essv456830,essv452559,essv441076,essv449704,essv444419,essv493510,essv490904,essv446338,essv450827,essv462851,essv468836,essv486464,essv469642,essv486921,essv493865,essv453389,essv437730,essv492557,essv452787,essv487510,essv482537,essv447010,essv445959,essv463848,essv470316,essv455032,essv453694,essv430603,essv434242,essv445528,essv460096,essv494846,essv473320,essv467930,essv489286,essv430199,essv452186,essv474471,essv441350,essv467431,essv477065,essv435686,essv477381,essv478331,essv445080,essv430959,essv440143,essv445270,essv470623,essv488323,essv493681,essv480840 M 185 0 123 Samples from several populations that are part of the HapMap project. B3GALT6,SDF4 NA06986,NA06994,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA11993,NA11994,NA12003,NA12004,NA12044,NA12045,NA12154,NA12155,NA12249,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12813,NA12878,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18510,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18945,NA18947,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18974,NA18975,NA18976,NA18981,NA19093,NA19098,NA19102,NA19119,NA19131,NA19137,NA19138,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19209,NA19238,NA19239,NA19240 dgv1499e59 1 1166313 1169462 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160267,esv159632 M 185 0 16 B3GALT6,SDF4 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36297 1 1166588 1169137 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114160,essv115802,essv113409 M 6 0 3 Samples from several populations that are part of the HapMap project. B3GALT6,SDF4 NA12878,NA19238,NA19239 esv33767 1 1168116 1169076 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95205,essv92753,essv96403 M 51 0 3 B3GALT6 21721,21944,22371 esv160433 1 1174913 1177462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476483,essv471684,essv491264,essv461835,essv480364,essv458308,essv484829,essv464701 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35365 1 1174938 1177337 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115724 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv159971 1 1179113 1181962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491415,essv479819,essv465103,essv471436,essv484441,essv461173,essv475726,essv458342 M 185 0 8 Samples from several populations that are part of the HapMap project. FAM132A NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36445 1 1179363 1181712 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115208,essv114612,essv113582 M 6 0 3 Samples from several populations that are part of the HapMap project. FAM132A NA12878,NA12891,NA12892 esv160331 1 1179838 1181437 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv493354,essv435895,essv436848,essv434440,essv469178,essv460342,essv490391,essv489936,essv479040,essv446457,essv432543,essv444887,essv477189,essv440098,essv494142,essv477556,essv434056,essv462737,essv477028,essv449894,essv463827,essv436631,essv492813,essv431880,essv486947,essv484887,essv473984,essv439041,essv456587,essv443144,essv495570,essv457955,essv466375,essv483998,essv482058,essv443969,essv438818,essv488713,essv469958,essv442470,essv474687,essv455776,essv429292,essv433034,essv480718,essv467390,essv486760,essv454019,essv448577,essv454801,essv466035,essv473002,essv468851,essv463013,essv478695,essv483582,essv431388,essv453369,essv494771,essv450989,essv457323,essv447266,essv448612,essv441571,essv472364 M 185 0 65 Samples from several populations that are part of the HapMap project. FAM132A NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv160656 1 1181113 1183962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485623,essv476273,essv462164,essv471505,essv465086,essv480569,essv458349,essv492443 M 185 0 8 Samples from several populations that are part of the HapMap project. FAM132A NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160811 1 1182388 1186887 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461061,essv441429,essv447905,essv465244,essv489341,essv451701,essv450880,essv436263,essv437667 M 185 0 9 Samples from several populations that are part of the HapMap project. "" NA07347,NA11832,NA12045,NA18504,NA18520,NA18532,NA18561,NA18953,NA18960 esv37152 1 1183188 1186087 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115510 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv5277 1 1183198 1183861 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27718 S 1 0 1 Single Asian sample YH "" YH esv1750792 1 1184373 1184637 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720664 S 2 0 1 "" HuRef esv160174 1 1192388 1196687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv466977,essv449521,essv474672,essv445992,essv445225,essv437631,essv495234,essv441145,essv466435,essv491034,essv436598,essv481862,essv437785,essv452393,essv473113,essv442909,essv460028,essv456527,essv430438,essv446242,essv488307,essv451559,essv440104,essv480649,essv495174 M 185 0 25 Samples from several populations that are part of the HapMap project. UBE2J2 NA07051,NA11831,NA11920,NA11993,NA11994,NA12006,NA12043,NA12044,NA12414,NA12716,NA12763,NA12878,NA18522,NA18523,NA18532,NA18609,NA18871,NA18912,NA18947,NA18953,NA18960,NA18981,NA19138,NA19204,NA19238 nsv817616 1 1192515 1242084 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417737 S 112 0 1 ACAP3,SCNN1D,UBE2J2 NA19003 esv161459 1 1193138 1195937 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492152,essv464996,essv479746,essv461444,essv458764,essv471141,essv485404,essv475621 M 185 0 8 Samples from several populations that are part of the HapMap project. UBE2J2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv8e1 1 1199320 1319872 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv462,essv64 M 271 0 0 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MXRA8,PUSL1,SCNN1D,TAS1R3,UBE2J2 NA18991 esv37813 1 1204347 1204813 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122730 S 6 0 1 Samples from several populations that are part of the HapMap project. UBE2J2 NA19238 esv40340 1 1204420 1204605 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110863 S 6 0 1 Samples from several populations that are part of the HapMap project. UBE2J2 NA19240 esv43234 1 1204480 1204716 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38684 S 6 0 2 Samples from several populations that are part of the HapMap project. UBE2J2 NA19238,NA19240 esv161158 1 1208113 1210662 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491980,essv475608,essv471122,essv465002,essv458676,essv461421,essv485178,essv480258 M 185 0 8 Samples from several populations that are part of the HapMap project. UBE2J2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv11e188 1 1211292 1286806 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1831852,esv1825669,esv1830165 M 6 3 0 ACAP3,CPSF3L,DVL1,GLTPD1,PUSL1,SCNN1D,TAS1R3 NA15510 esv160728 1 1218513 1221062 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485626,essv458826,essv471009,essv461121,essv465313,essv480044,essv475472,essv491985 M 185 0 8 Samples from several populations that are part of the HapMap project. SCNN1D NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv39388 1 1218756 1220403 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123097 S 6 0 1 Samples from several populations that are part of the HapMap project. SCNN1D NA19240 esv160004 1 1221888 1226487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv442325,essv431339,essv430167,essv469663,essv430366,essv447132,essv494606,essv482933,essv435486,essv437319,essv466037,essv486046,essv486084,essv442847,essv429338,essv473623,essv453212,essv487364,essv451657,essv430704,essv432747,essv452372,essv440900,essv461030,essv466820,essv445584,essv451769,essv434140,essv465525,essv435081,essv444485,essv473398,essv445919,essv470556,essv454954,essv463866,essv469277,essv492598,essv435779,essv482486,essv490818,essv475969,essv440473,essv489189,essv452654,essv476568,essv437613,essv472287 M 185 0 48 Samples from several populations that are part of the HapMap project. SCNN1D NA07037,NA07051,NA07357,NA12414,NA18489,NA18499,NA18502,NA18504,NA18508,NA18511,NA18520,NA18526,NA18550,NA18552,NA18562,NA18572,NA18573,NA18577,NA18582,NA18592,NA18593,NA18603,NA18608,NA18853,NA18856,NA18870,NA18909,NA18912,NA18916,NA18943,NA18951,NA18953,NA18960,NA18961,NA18964,NA18976,NA19005,NA19098,NA19099,NA19119,NA19129,NA19147,NA19172,NA19200,NA19201,NA19209,NA19239,NA19257 esv43514 1 1222888 1225987 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv35371 S 6 0 1 Samples from several populations that are part of the HapMap project. SCNN1D NA19239 esv25372 1 1223559 1225694 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20786 S 451 2 14 SCNN1D NA12004,NA12006,NA12044,NA12287,NA12414,NA12878,NA15510,NA18505,NA18508,NA18511,NA18907,NA18909,NA18916,NA19099,NA19129,NA19257 esv2106414 1 1223568 1225749 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4728356 S 1 0 1 SCNN1D NA18507 nsv499366 1 1223580 1225633 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585600 S 9 1 0 SCNN1D esv1004967 1 1223644 1225609 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586753 S 3 1 0 SCNN1D HuRef nsv511671 1 1223858 1225621 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626308 S 1 0 1 SCNN1D 1 esv1653789 1 1223947 1224229 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908676 S 2 0 1 SCNN1D HuRef esv1027332 1 1224273 1225316 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148647 S 2 0 1 SCNN1D HuRef esv1323061 1 1225406 1225406 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960677 S 2 1 0 SCNN1D HuRef esv160668 1 1225538 1228037 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475996,essv479667,essv492761,essv458393,essv461822,essv485803,essv471184,essv465179 M 185 0 8 Samples from several populations that are part of the HapMap project. ACAP3,SCNN1D NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160357 1 1227913 1230962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484738,essv471440,essv458458,essv492111,essv461157,essv480486,essv464699,essv476372 M 185 0 8 Samples from several populations that are part of the HapMap project. ACAP3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35297 1 1228238 1230837 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116523 S 6 0 1 Samples from several populations that are part of the HapMap project. ACAP3 NA19239 nsv160950 1 1229112 1229112 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179528 M 24 ACAP3 esv159780 1 1231313 1234062 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492602,essv458795,essv479878,essv464960,essv484872,essv471269,essv476211,essv461983 M 185 0 8 Samples from several populations that are part of the HapMap project. ACAP3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv43101 1 1232093 1232866 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38174 S 6 0 1 Samples from several populations that are part of the HapMap project. ACAP3 NA19240 esv163025 1 1232394 1233208 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv507979,essv504328,essv530874,essv534111,essv538571,essv513658,essv528014,essv533358 M 185 0 8 Samples from several populations that are part of the HapMap project. ACAP3 NA18498,NA18523,NA18537,NA18550,NA18573,NA18576,NA18638,NA18960 dgv7274e59 1 1232406 1233245 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv40012,esv43302 M 6 0 7 ACAP3 NA19238,NA19239,NA19240 esv3050 1 1232448 1233224 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25491 S 1 0 1 Single Asian sample YH ACAP3 YH esv38177 1 1232788 1233265 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122095 S 6 0 1 Samples from several populations that are part of the HapMap project. ACAP3 NA19240 esv161724 1 1240088 1244287 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv440178,essv486686,essv487279,essv445317,essv442749,essv487571,essv488391,essv463418,essv453609,essv473479,essv464839,essv475315,essv468410,essv450443,essv470617,essv449404,essv438007,essv495164,essv476538,essv460944,essv441035,essv430310 M 185 0 22 Samples from several populations that are part of the HapMap project. ACAP3,PUSL1 NA11831,NA11832,NA11919,NA11992,NA12414,NA12776,NA18504,NA18522,NA18526,NA18542,NA18572,NA18603,NA18608,NA18853,NA18967,NA18981,NA19138,NA19152,NA19159,NA19204,NA19207,NA19238 esv160133 1 1241138 1243937 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485479,essv464306,essv458753,essv461782,essv480136,essv476059,essv491315,essv471601 M 185 0 8 Samples from several populations that are part of the HapMap project. ACAP3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37376 1 1242563 1245262 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114583 S 6 0 1 Samples from several populations that are part of the HapMap project. ACAP3,PUSL1 NA12878 esv161327 1 1243113 1245862 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471137,essv465272,essv485916,essv461956,essv480124,essv475563,essv492351,essv458835 M 185 0 8 Samples from several populations that are part of the HapMap project. ACAP3,PUSL1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv40165 1 1246160 1246338 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111596 S 6 0 1 Samples from several populations that are part of the HapMap project. PUSL1 NA12878 esv36402 1 1249988 1252287 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113324 S 6 0 1 Samples from several populations that are part of the HapMap project. CPSF3L NA19238 esv36221 1 1256838 1379937 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115155 S 6 0 1 Samples from several populations that are part of the HapMap project. AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,TAS1R3,TMEM88B,VWA1 NA12892 dgv7275e59 1 1256888 1471637 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37059,esv36491 M 6 0 5 ATAD3A,ATAD3B,ATAD3C,AURKAIP1,C1orf70,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,TAS1R3,TMEM88B,VWA1 NA12878,NA12891,NA19238,NA19239,NA19240 esv160667 1 1256913 1259462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464245,essv459375,essv471695,essv480217,essv485668,essv461228,essv492526,essv475449 M 185 0 8 Samples from several populations that are part of the HapMap project. CPSF3L NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161731 1 1257388 1443437 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv436320,essv471986,essv478713,essv472587,essv463875,essv432522,essv435744,essv439818,essv478822,essv447656,essv432011,essv450296,essv454250,essv453044,essv477528,essv491337,essv493847,essv448873,essv467698,essv488540,essv429249,essv444904,essv487482,essv466373,essv490705,essv484681,essv477760,essv439378,essv484189,essv482345,essv443754,essv446499,essv456292,essv434448,essv443354,essv495204,essv457645,essv433074,essv462959,essv474214,essv460420,essv474583,essv462630,essv465892,essv476806,essv448111,essv450842,essv483645,essv441900,essv486777,essv456165,essv494527,essv433801,essv437176,essv470054,essv454933,essv442172,essv431310,essv489644,essv468543,essv469612,essv480873,essv438725,essv457031 M 185 0 64 Samples from several populations that are part of the HapMap project. ATAD3B,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,TAS1R3,TMEM88B,VWA1 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv161442 1 1258113 1261462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485367,essv464939,essv461536,essv459431,essv471843,essv479497,essv476076,essv492003 M 185 0 8 Samples from several populations that are part of the HapMap project. CPSF3L,GLTPD1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160568 1 1261513 1264262 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471605,essv480318,essv458534,essv462113,essv464913,essv485843,essv476368,essv491852 M 185 0 8 Samples from several populations that are part of the HapMap project. GLTPD1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161430 1 1262888 1267587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv480923,essv453787,essv467338,essv482671,essv429975,essv446265,essv431006,essv436826,essv489123,essv470410,essv446027,essv490973,essv445320,essv455094,essv473391,essv494992,essv436409,essv483253,essv492979,essv450970,essv488481,essv473831,essv487302,essv439714,essv475309,essv492452,essv452254,essv457130,essv452402,essv436093,essv440351,essv472090,essv443305,essv447174,essv459789,essv469131,essv479150,essv459968,essv430701,essv456406,essv457658,essv461060,essv450534,essv480305,essv477562,essv484414,essv495452,essv481238,essv444946,essv444124,essv434476,essv468149,essv443660,essv464890,essv451378,essv482253,essv435302,essv473289,essv466972,essv459442,essv446960,essv478466,essv482884,essv442113,essv468023,essv476794,essv451676,essv442893,essv487506,essv445490,essv440423,essv474615,essv475997,essv470687,essv432319,essv477259,essv449652,essv441078,essv488679,essv437645,essv487765,essv466520,essv468720,essv447519,essv449484,essv455639,essv460214 M 185 0 87 Samples from several populations that are part of the HapMap project. GLTPD1,TAS1R3 NA06986,NA07051,NA07346,NA10851,NA11831,NA11832,NA11881,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12144,NA12154,NA12155,NA12249,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12878,NA18504,NA18510,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18547,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18909,NA18912,NA18943,NA18947,NA18953,NA18960,NA18961,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA19005,NA19138,NA19152,NA19160,NA19171,NA19200,NA19201,NA19204,NA19207,NA19209,NA19225,NA19238,NA19240,NA19257 esv161318 1 1264113 1266962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv470812,essv492102,essv475819,essv464999,essv480423,essv458250,essv485846,essv461763 M 185 0 8 Samples from several populations that are part of the HapMap project. GLTPD1,TAS1R3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1810290 1 1269723 1301633 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4410877 S 6 1 0 DVL1,MXRA8,TAS1R3 NA18517 esv160715 1 1274088 1278587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv442506,essv462977,essv446288,essv476549,essv481699,essv466335,essv449156,essv449530,essv457288,essv437489,essv475982,essv489155,essv494403,essv495400,essv481560,essv454956,essv452213,essv459942,essv450391,essv480291,essv446066,essv439270,essv429854,essv452370,essv457689,essv444825,essv484245,essv430384,essv443965,essv455582,essv447925,essv473274,essv475267,essv440979,essv478306,essv487025,essv482842,essv438108,essv437742,essv460248,essv474337,essv480882,essv453672,essv473423,essv495019,essv492024,essv440472,essv435640,essv487876,essv472227,essv490189,essv451540,essv447477,essv446745,essv432373,essv439732,essv487690,essv482642,essv468255 M 185 0 59 Samples from several populations that are part of the HapMap project. DVL1 NA06994,NA07051,NA07346,NA07347,NA10847,NA11831,NA11919,NA11920,NA11992,NA11994,NA12004,NA12006,NA12043,NA12155,NA12249,NA12414,NA12717,NA12750,NA12751,NA12761,NA12776,NA12813,NA12828,NA12878,NA12892,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18552,NA18558,NA18564,NA18572,NA18579,NA18582,NA18608,NA18609,NA18871,NA18953,NA18961,NA18967,NA18973,NA18975,NA18976,NA18981,NA19005,NA19114,NA19131,NA19138,NA19152,NA19159,NA19160,NA19172,NA19201,NA19207,NA19240,NA19257 dgv1500e59 1 1283113 1286262 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160268,esv161319 M 185 0 16 DVL1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160860 1 1284113 1288062 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv465125,essv470787,essv480561,essv484543,essv462141,essv458283,essv491365,essv476402 M 185 0 8 Samples from several populations that are part of the HapMap project. DVL1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv511672 1 1285180 1286870 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626309 S 1 0 1 "" 1 esv23965 1 1285400 1286900 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19242 S 451 16 0 "" NA06985,NA12239,NA12414,NA15510,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129 esv988609 1 1285400 1286900 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586390 S 3 0 1 "" HuRef dgv12e188 1 1285430 1286806 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1841670,esv1838820 M 6 0 2 "" NA10851 dgv13e188 1 1285430 1287127 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1825868,esv1800040 M 6 2 0 "" NA12239,NA15510 esv1845970 1 1285430 1288823 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4412848 S 6 1 0 MXRA8 NA18980 esv43364 1 1286570 1287331 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39583 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv159728 1 1289113 1293462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv465387,essv462291,essv470886,essv459179,essv484382,essv480019,essv491265,essv475386 M 185 0 8 Samples from several populations that are part of the HapMap project. MXRA8 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160015 1 1294188 1298587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv474626,essv443716,essv454821,essv460275,essv440536,essv451539,essv457174,essv483583,essv468147,essv435242,essv486669,essv488489,essv463072,essv494807,essv490988,essv473412,essv455373,essv439752,essv430756,essv437978,essv441178,essv473313,essv459965,essv490205,essv446069,essv430333,essv441248,essv444758,essv450440,essv488042,essv458157,essv446594,essv481303,essv465196,essv466733,essv430041,essv447854,essv451893,essv472106,essv442832,essv444500,essv482444,essv489195,essv495180,essv437630,essv445468,essv470696,essv467381,essv469254,essv449315,essv466777,essv486858,essv449468,essv452304 M 185 0 54 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA10851,NA11831,NA11832,NA11919,NA11920,NA11992,NA11994,NA12003,NA12004,NA12043,NA12045,NA12154,NA12249,NA12414,NA12717,NA12750,NA12751,NA12828,NA12878,NA18489,NA18498,NA18499,NA18520,NA18522,NA18526,NA18542,NA18552,NA18570,NA18582,NA18592,NA18603,NA18608,NA18638,NA18853,NA18871,NA18909,NA18912,NA18947,NA18953,NA18956,NA18967,NA18972,NA18973,NA18976,NA18981,NA19098,NA19102,NA19138,NA19160,NA19172,NA19204,NA19240 esv160223 1 1300288 1304487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv460456,essv481009,essv468193,essv467358,essv442526,essv452679,essv478257,essv437380,essv450624,essv486297,essv433112,essv441959,essv474415,essv492549,essv462219,essv477538,essv483204,essv463007,essv442856,essv453678,essv435204,essv445832,essv438355,essv473336,essv440459,essv444536,essv468042,essv449204,essv429317,essv431455,essv437695,essv475935,essv447500,essv438119,essv460116,essv483857,essv459520,essv452036,essv439271,essv466716,essv450416,essv443609,essv493018,essv482974,essv469586,essv493606,essv482697,essv462351,essv470212,essv448622,essv471981,essv476604,essv433586,essv487681,essv457307,essv451641,essv488776,essv434141,essv447107,essv463974,essv449656,essv440119,essv452272,essv465906,essv468788,essv493968,essv436333,essv494577,essv488400,essv474915,essv489772,essv449409,essv455045,essv489296,essv430857,essv445406,essv473963,essv479221,essv486960 M 185 0 79 Samples from several populations that are part of the HapMap project. "" NA06994,NA10847,NA10851,NA11830,NA11919,NA11931,NA11992,NA12003,NA12043,NA12489,NA12813,NA18510,NA18519,NA18520,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18870,NA18940,NA18942,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18953,NA18960,NA18961,NA18967,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA19005,NA19098,NA19119,NA19138,NA19152,NA19153,NA19159,NA19160,NA19200,NA19201,NA19204,NA19207,NA19209,NA19225,NA19240,NA19257 esv38078 1 1302326 1302652 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122173,essv122372 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv3820 1 1302378 1302825 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26261 S 1 0 1 Single Asian sample YH "" YH esv9582 1 1302563 1302882 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32023 S 1 0 1 "" SJK esv160931 1 1309113 1311962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475658,essv485493,essv465090,essv471016,essv461344,essv480363,essv458751,essv492300 M 185 0 8 Samples from several populations that are part of the HapMap project. AURKAIP1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161516 1 1310113 1312962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492444,essv462028,essv471044,essv459358,essv480371,essv464740,essv484869,essv475631 M 185 0 8 Samples from several populations that are part of the HapMap project. AURKAIP1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv2540358 1 1317297 1317998 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5193104 S 1 1 0 "" NA18507 essv5472 1 1324529 1516550 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ATAD3A,ATAD3B,ATAD3C,C1orf70,CCNL2,LOC148413,LOC441869,MRPL20,SSU72,TMEM88B,VWA1 NA18632 dgv9e1 1 1324529 2024338 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3870,esv532 M 271 0 0 ATAD3A,ATAD3B,ATAD3C,C1orf70,CALML6,CCNL2,CDK11A,CDK11B,GABRD,GNB1,KIAA1751,LOC148413,LOC441869,LOC643988,MIB2,MMP23A,MMP23B,MRPL20,NADK,PRKCZ,SLC35E2,SLC35E2B,SSU72,TMEM52,TMEM88B,VWA1 NA18994 esv161163 1 1341613 1344462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475550,essv459098,essv479554,essv464656,essv485799,essv462284,essv471785,essv491454 M 185 0 8 Samples from several populations that are part of the HapMap project. MRPL20 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161491 1 1354113 1357462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492225,essv484607,essv458776,essv471553,essv479974,essv461516,essv465306,essv475880 M 185 0 8 Samples from several populations that are part of the HapMap project. LOC441869 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160043 1 1356113 1358662 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492397,essv475373,essv462105,essv471531,essv465172,essv479846,essv484442,essv458904 M 185 0 8 Samples from several populations that are part of the HapMap project. LOC441869 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160604 1 1361113 1364962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475399,essv485173,essv471775,essv459439,essv464726,essv461564,essv479692,essv491795 M 185 0 8 Samples from several populations that are part of the HapMap project. TMEM88B NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv38709 1 1361798 1364188 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123002 S 6 0 1 Samples from several populations that are part of the HapMap project. TMEM88B NA19240 esv24333 1 1362430 1363536 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10423 S 451 1 0 TMEM88B NA06985 esv161021 1 1365113 1367962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475749,essv480429,essv462032,essv485516,essv458427,essv492832,essv465422,essv471847 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv42720 1 1365987 1366306 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112315 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv41604 1 1366371 1366532 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110911 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv161136 1 1367113 1370062 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491499,essv479636,essv462242,essv484510,essv464678,essv459103,essv471694,essv476234 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv1501e59 1 1369613 1372862 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161421,esv161450 M 185 0 16 VWA1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv40998 1 1371956 1372117 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111405 S 6 0 1 Samples from several populations that are part of the HapMap project. VWA1 NA12878 esv40097 1 1372013 1372480 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111625 S 6 0 1 Samples from several populations that are part of the HapMap project. VWA1 NA12878 esv161191 1 1372788 1377087 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv451817,essv459687,essv487961,essv440442,essv486126,essv433741,essv491796,essv491139,essv444330,essv429652,essv472138,essv447496,essv482612,essv436671,essv439820,essv439542,essv437629,essv487140,essv446130,essv487837,essv463419,essv438840,essv468295,essv432057,essv429096,essv450597,essv453911,essv449391,essv442465,essv445281,essv460491,essv452102,essv493532,essv455559,essv488446,essv455352,essv442589,essv495095,essv435263,essv478507,essv447791,essv445760,essv435676,essv488842,essv452650,essv467829,essv449724,essv476379,essv490167,essv443267,essv462354,essv474462,essv447128,essv435017,essv476965,essv430779,essv440679,essv437837,essv481350,essv444583,essv459480,essv451401,essv430345,essv443555,essv488178,essv429976,essv460872,essv458070,essv473605,essv452416,essv440927,essv456829,essv484105,essv441265,essv473142,essv444103,essv450468,essv441064,essv461360,essv492992,essv449318,essv439199,essv480334,essv490586,essv446766,essv464807,essv467071,essv459969,essv434385,essv466563,essv452209,essv431242,essv483011,essv482732,essv487554,essv483499,essv451646,essv494765,essv470554,essv490954,essv435467,essv468905,essv442861,essv460141,essv434066,essv489739,essv477174,essv480590,essv470425,essv472688,essv438091,essv430129,essv473460,essv467487,essv436861,essv445960,essv467975,essv445383,essv430529,essv474128,essv453033,essv431882,essv489192,essv457437,essv479267,essv441856,essv455065,essv469739,essv451292,essv466746,essv454664,essv453657 M 185 0 132 Samples from several populations that are part of the HapMap project. VWA1 NA06986,NA06994,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11832,NA11919,NA11920,NA11931,NA11992,NA11994,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12813,NA12828,NA12878,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18517,NA18519,NA18520,NA18522,NA18526,NA18532,NA18537,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18942,NA18944,NA18949,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA19005,NA19093,NA19098,NA19099,NA19102,NA19119,NA19131,NA19137,NA19138,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19209,NA19225,NA19238,NA19239,NA19240,NA19257 dgv1502e59 1 1373713 1376662 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160130,esv160575 M 185 0 16 VWA1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161040 1 1380488 1384687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv436425,essv449754,essv452365,essv470615,essv469743,essv478649,essv444777,essv485403,essv473204,essv430856,essv447785,essv467818,essv482064,essv466875,essv465531,essv445399,essv467552,essv488173,essv490138,essv457494,essv452648,essv485968,essv466064,essv488527,essv495114,essv470267,essv432773,essv491118,essv486683,essv433082,essv446011,essv437887,essv449547,essv446890,essv438878,essv451966,essv495660,essv459811,essv467058,essv466540,essv430018,essv481279,essv449247,essv444064,essv441030,essv493004,essv487997,essv443550,essv463571,essv455490,essv450404,essv451526,essv477683,essv461025,essv487789,essv452323,essv482476,essv480595,essv462347,essv476856,essv486125,essv490985,essv445846,essv441679,essv435712,essv448217,essv444451,essv479070,essv474052,essv467965,essv482776,essv429631,essv483293,essv437575,essv430233,essv474392,essv464036,essv469376,essv456133,essv433730,essv437015,essv486961,essv442391,essv493125,essv450708,essv491626,essv431431,essv438139,essv482912,essv429207,essv460011,essv473449,essv434575,essv477282,essv455287,essv493629 M 185 0 96 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07347,NA10847,NA10851,NA11831,NA11881,NA11894,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12006,NA12043,NA12144,NA12154,NA12155,NA12249,NA12716,NA12717,NA12750,NA12751,NA12761,NA12813,NA12828,NA12878,NA18489,NA18498,NA18499,NA18501,NA18504,NA18517,NA18519,NA18522,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18577,NA18579,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18870,NA18871,NA18912,NA18916,NA18940,NA18942,NA18943,NA18948,NA18951,NA18953,NA18961,NA18968,NA18972,NA18973,NA18974,NA18980,NA19005,NA19098,NA19099,NA19102,NA19119,NA19129,NA19137,NA19138,NA19153,NA19159,NA19160,NA19172,NA19190,NA19200,NA19225,NA19239 nsv482135 1 1385069 1405538 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558496 S 1 1 0 ATAD3C KB1 esv38300 1 1404046 1444877 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121380 S 6 0 1 Samples from several populations that are part of the HapMap project. ATAD3B,ATAD3C NA12891 esv159854 1 1405613 1408962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484558,essv470891,essv459201,essv461128,essv480329,essv491877,essv475528,essv464747 M 185 0 8 Samples from several populations that are part of the HapMap project. ATAD3B NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv482146 1 1407164 1431581 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558507 S 1 1 0 ATAD3B KB1 esv1254392 1 1413349 1413349 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989689 S 2 1 0 ATAD3B HuRef esv166298 1 1413613 1417262 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv159978 S 185 0 8 Samples from several populations that are part of the HapMap project. ATAD3B NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv25832 1 1414909 1416195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11756 S 451 0 3 ATAD3B NA18511,NA18523,NA18861 esv37042 1 1423438 1443537 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115270 S 6 0 1 Samples from several populations that are part of the HapMap project. ATAD3B NA12892 esv40679 1 1427393 1525764 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112672 S 6 0 1 Samples from several populations that are part of the HapMap project. ATAD3A,ATAD3B,C1orf70,SSU72 NA12878 esv37957 1 1429917 1443526 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122461 S 6 0 1 Samples from several populations that are part of the HapMap project. ATAD3B NA19239 esv40024 1 1431175 1469630 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121508 S 6 0 1 Samples from several populations that are part of the HapMap project. ATAD3A,ATAD3B NA12892 esv160578 1 1432388 1436587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv473487,essv475158,essv493520,essv452453,essv441407,essv449337,essv455108,essv454116,essv437004,essv451531,essv490356,essv467428,essv476553,essv489485,essv449532,essv442729,essv434960,essv465608,essv495001,essv479393,essv494064,essv467815,essv494818,essv483483,essv472588,essv463753,essv451167,essv460247,essv454913,essv466929,essv463363,essv482771,essv475956,essv441647,essv469243,essv452743,essv451591,essv478913,essv435497,essv472444,essv437801,essv440629,essv459900,essv458974,essv488055,essv495244,essv473661,essv432806,essv459779,essv466611,essv441027,essv444601,essv446668,essv453423,essv466960,essv458077,essv434855,essv473023,essv443283,essv481535,essv433482,essv456777,essv445606,essv463655,essv478032,essv488165,essv460880,essv455646,essv485582,essv435163,essv443763,essv440874,essv468304,essv481910,essv450402,essv445350,essv469713,essv431755,essv452203,essv488383,essv453766,essv450054,essv445874,essv487873,essv455337,essv452912,essv487086,essv480636,essv474435,essv448187,essv473868,essv490953,essv462309,essv455966,essv434050,essv448641,essv468498,essv446365,essv470329,essv445380,essv430111,essv449622,essv488579,essv489229,essv486026,essv465517,essv493637,essv460432,essv491099,essv468098,essv447007,essv474621,essv432295,essv481754 M 185 0 114 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA11831,NA11881,NA11894,NA11919,NA11920,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12155,NA12156,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18504,NA18507,NA18508,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18545,NA18547,NA18552,NA18555,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18858,NA18870,NA18871,NA18907,NA18912,NA18916,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18976,NA18980,NA19093,NA19102,NA19114,NA19119,NA19129,NA19131,NA19137,NA19138,NA19147,NA19160,NA19201,NA19204,NA19207,NA19209,NA19225,NA19238,NA19239,NA19240,NA19257 nsv821809 1 1443968 1447519 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428013 S 31 1 0 "" AK10 nsv821920 1 1443968 1463826 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440791 S 31 1 0 ATAD3A NA18969 esv159942 1 1446513 1449262 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv459385,essv475422,essv484320,essv461242,essv480267,essv465232,essv491368,essv471459 M 185 0 8 Samples from several populations that are part of the HapMap project. ATAD3A NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv482157 1 1447555 1470064 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558518 S 1 1 0 ATAD3A KB1 esv165853 1 1451588 1455787 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv159756 S 185 0 36 Samples from several populations that are part of the HapMap project. ATAD3A NA06986,NA07347,NA10847,NA11831,NA11832,NA11881,NA11919,NA11992,NA12004,NA12154,NA12155,NA12751,NA12763,NA18510,NA18552,NA18572,NA18940,NA18959,NA18967,NA18971,NA18973,NA18974,NA18975,NA18976,NA18981,NA19098,NA19102,NA19131,NA19152,NA19160,NA19171,NA19172,NA19204,NA19207,NA19239,NA19257 dgv1503e59 1 1452338 1455262 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv159717,esv160995 M 185 0 16 ATAD3A NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160676 1 1457113 1460462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492055,essv485113,essv459171,essv475329,essv479406,essv465130,essv462271,essv471516 M 185 0 8 Samples from several populations that are part of the HapMap project. ATAD3A NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv162503 1 1465729 1466418 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv533179,essv530611,essv526365,essv538436,essv521817,essv497689,essv526057 M 185 0 7 Samples from several populations that are part of the HapMap project. ATAD3A NA18498,NA18519,NA18545,NA18555,NA18576,NA19116,NA19138 esv43526 1 1465909 1466230 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38448 S 6 0 2 Samples from several populations that are part of the HapMap project. ATAD3A NA19238,NA19239 esv166064 1 1465912 1466230 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162539,esv164758,esv163089 M 185 0 141 Samples from several populations that are part of the HapMap project. ATAD3A NA06994,NA07051,NA11830,NA11894,NA11918,NA11992,NA11995,NA12006,NA12044,NA12045,NA12154,NA12716,NA12763,NA12813,NA18486,NA18498,NA18499,NA18502,NA18505,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18542,NA18545,NA18550,NA18555,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18592,NA18608,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18943,NA18944,NA18947,NA18953,NA18956,NA18959,NA18964,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA19005,NA19093,NA19098,NA19099,NA19102,NA19108,NA19116,NA19119,NA19129,NA19131,NA19137,NA19138,NA19144,NA19147,NA19152,NA19159,NA19160,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19210,NA19225,NA19239,NA19257 esv36010 1 1469638 1471887 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114651 S 6 0 1 Samples from several populations that are part of the HapMap project. ATAD3A,C1orf70 NA12878 esv160407 1 1471188 1475687 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv439957,essv442730,essv438001,essv452083,essv435150,essv445235,essv440566,essv437572,essv446334,essv482487 M 185 0 10 Samples from several populations that are part of the HapMap project. C1orf70 NA12003,NA12489,NA18523,NA18582,NA18603,NA18871,NA18953,NA18981,NA19172,NA19238 esv36916 1 1471988 1474987 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116568 S 6 0 1 Samples from several populations that are part of the HapMap project. C1orf70 NA19239 esv160271 1 1472138 1474937 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471726,essv462249,essv458803,essv464269,essv485712,essv480417,essv491956,essv475681 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf70 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv159616 1 1474113 1477462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471277,essv492042,essv476376,essv461912,essv485596,essv465263,essv479711,essv458737 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf70,SSU72 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36678 1 1474513 1476862 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115917,essv113916 M 6 0 2 Samples from several populations that are part of the HapMap project. C1orf70 NA12878,NA19239 esv1301718 1 1479107 1479107 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821253 S 2 1 0 SSU72 HuRef esv1010850 1 1501009 1501009 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3572228 S 3 1 0 SSU72 HuRef esv161000 1 1508513 1511062 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458460,essv471013,essv475953,essv480365,essv484636,essv461781,essv464665,essv492660 M 185 0 8 Samples from several populations that are part of the HapMap project. SSU72 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160252 1 1528388 1532587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv482613,essv446598,essv490012,essv439947,essv435299,essv432261,essv489314,essv463152,essv472777,essv437792,essv492918,essv445721,essv452464,essv434445,essv441397,essv471264,essv465473,essv479225 M 185 0 18 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA11931,NA12003,NA12045,NA12144,NA12287,NA12717,NA12828,NA18520,NA18547,NA18564,NA18871,NA18965,NA18967,NA18981,NA19129,NA19172 esv35758 1 1534238 1536637 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114276,essv116589,essv115036 M 6 0 3 Samples from several populations that are part of the HapMap project. LOC643988 NA12878,NA12892,NA19239 esv160788 1 1534988 1536187 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484095,essv450769,essv495310,essv489542,essv493090,essv448933,essv439910,essv474743,essv464007,essv478314,essv477635,essv468994,essv442432,essv441967,essv471985,essv435996,essv473847,essv476514,essv432433,essv460788,essv457949,essv477158,essv439505,essv434559,essv490580,essv456263,essv444071,essv446542,essv466584,essv485049,essv481882,essv429435,essv430920,essv487307,essv449864,essv431633,essv486431,essv470158,essv455689,essv448396,essv438533,essv447471,essv432857,essv472646,essv488658,essv493940,essv453082,essv454528,essv494674,essv462613,essv437368,essv469363,essv436792,essv433886,essv467284,essv483389,essv492049,essv466074,essv445005,essv481030,essv463459 M 185 0 61 Samples from several populations that are part of the HapMap project. LOC643988 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv160854 1 1540713 1543262 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476276,essv492147,essv471830,essv465297,essv485606,essv459057,essv479946,essv461396 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv998174 1 1540850 1541970 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586347 S 3 1 0 "" HuRef esv23829 1 1540930 1541970 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15071 S 451 0 3 "" NA12006,NA12878,NA18916 esv1838149 1 1540957 1706160 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4401876 S 6 1 0 CDK11A,CDK11B,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B NA10851 esv39735 1 1541251 1541610 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122168 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv160363 1 1548988 1553587 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv488502,essv491703,essv460829,essv453845,essv459785,essv439924,essv474382,essv451607,essv494980,essv437826,essv456875,essv464798,essv493284,essv468882,essv489694,essv475119,essv467115,essv452299,essv455594,essv453203,essv468400,essv490844,essv441395,essv435187,essv440756,essv444889,essv451411,essv447960,essv459552,essv491131,essv441017,essv481411,essv446039,essv450393,essv466893,essv483705,essv480464,essv473028,essv452521,essv451842,essv430168,essv470198,essv438114,essv439575,essv460158,essv487641,essv467926,essv432042,essv463182,essv489147,essv482441,essv469723,essv472130,essv449545,essv488426,essv449709,essv470697,essv439429,essv438542,essv452799,essv455159,essv447614,essv462170,essv488033,essv437492 M 185 0 65 Samples from several populations that are part of the HapMap project. MIB2 NA06986,NA06994,NA07051,NA07346,NA07347,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA11994,NA12003,NA12045,NA12154,NA12155,NA12716,NA12750,NA12751,NA12763,NA12776,NA12813,NA18489,NA18498,NA18499,NA18501,NA18504,NA18510,NA18519,NA18520,NA18522,NA18537,NA18563,NA18564,NA18576,NA18853,NA18856,NA18858,NA18871,NA18907,NA18912,NA18949,NA18953,NA18960,NA18961,NA18964,NA18967,NA18968,NA18971,NA18975,NA18976,NA18981,NA19102,NA19119,NA19137,NA19138,NA19152,NA19159,NA19160,NA19171,NA19172,NA19204,NA19207,NA19239,NA19240 esv161600 1 1549913 1552462 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476295,essv459433,essv480341,essv462266,essv471022,essv484658,essv465288,essv491856 M 185 0 8 Samples from several populations that are part of the HapMap project. MIB2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv822031 1 1552632 1553336 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434858 S 31 0 1 MIB2 NA18942 esv160866 1 1559338 1561837 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv480082,essv464356,essv471513,essv459334,essv484700,essv461122,essv492272,essv475971 M 185 0 8 Samples from several populations that are part of the HapMap project. MIB2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160840 1 1561138 1563637 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv480484,essv475363,essv471816,essv458399,essv465413,essv484789,essv461147,essv492271 M 185 0 8 Samples from several populations that are part of the HapMap project. MIB2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36903 1 1563138 1571087 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114716 S 6 0 1 Samples from several populations that are part of the HapMap project. MIB2,MMP23A,MMP23B NA12878 esv37336 1 1563388 1568387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113320 S 6 0 1 Samples from several populations that are part of the HapMap project. MIB2,MMP23A,MMP23B NA19238 esv35434 1 1564338 1566837 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116383 S 6 0 1 Samples from several populations that are part of the HapMap project. MIB2 NA19239 esv161175 1 1564513 1567662 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461365,essv479437,essv471798,essv465326,essv484540,essv491941,essv458966,essv476067 M 185 0 8 Samples from several populations that are part of the HapMap project. MIB2,MMP23B NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv27786 1 1567881 1683706 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17198 S 451 1 0 CDK11A,CDK11B,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B NA12828 dgv7276e59 1 1571716 1648411 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39231,esv39889,esv39046 M 6 0 4 CDK11A,CDK11B,MMP23A,SLC35E2B NA12878,NA19239,NA19240 esv35193 1 1580088 1584487 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114476 S 6 0 1 Samples from several populations that are part of the HapMap project. CDK11B NA12878 esv166263 1 1584023 1654163 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163277 S 185 0 13 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B,MMP23A,SLC35E2B NA06986,NA07346,NA10847,NA11920,NA11992,NA12043,NA12045,NA12154,NA12155,NA12249,NA12763,NA18856,NA18871 esv1336011 1 1584546 1584546 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160103 S 2 1 0 CDK11B HuRef dgv3n67 1 1585374 1667157 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822253,nsv822142,nsv822364 M 31 3 0 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B NA18542,NA18566,NA18582 esv1758309 1 1598431 1598598 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3827771 S 2 0 1 CDK11B,SLC35E2B HuRef dgv7277e59 1 1612288 1614587 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35684,esv37705 M 6 0 2 CDK11B,SLC35E2B NA19239,NA19240 esv6099 1 1615256 1615349 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28540 S 1 1 0 CDK11B,SLC35E2B SJK esv165564 1 1617234 1672263 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163909 S 185 0 4 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B NA11831,NA11992,NA12003,NA12750 dgv10e1 1 1619653 1730263 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16833,essv20567,essv17575,essv5454,essv21660,essv20259,essv10795,essv13898,essv7086,essv11783,essv4042,essv11223,essv23590,essv16942,essv24958,essv17964,essv23336,essv1830,essv21384 M 271 0 0 CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2,SLC35E2B NA07056,NA10839,NA12003,NA12006,NA12144,NA12248,NA12740,NA12750,NA12762,NA18504,NA18523,NA18537,NA18632,NA18635,NA18854,NA18976,NA19144,NA19204,NA19205 nsv482957 1 1619653 1730263 CNV Loss Iafrate et al 2004 15286789 BAC_aCGH,FISH Spectral Genomics 2600 BAC array nssv650869 M 0 0 Twenty samples were obtained from normal individuals whose DNA are stored at the Coriell Cell Repository (Camden, New Jersey) with the following ethnic representation: 10 European/Caucasian, 4 Native American, 2 Chinese, 2 Indo-Pakistani, and 2 Sub-Saharan African. Twelve samples were from fixed cell pellets of cytogenetically normal individuals from the Brigham and Women's Cytogenetics Laboratory and 7 samples from cytogenetically normal individuals were obtained from the Hospital for Sick Children. CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2,SLC35E2B dgv1504e59 1 1622716 1625965 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161324,esv161684 M 185 0 16 CDK11B,SLC35E2B NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv7278e59 1 1622950 1678816 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43736,esv38824 M 6 0 2 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B NA12891,NA12892 dgv14e188 1 1627918 1672603 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1805976,esv1832531 M 6 2 0 CDK11A,CDK11B,MMP23A,SLC35E2 NA15510,NA18517 nsv442858 1 1627918 1672603 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CDK11A,CDK11B,MMP23A,SLC35E2 nsv436343 1 1629618 1684180 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466028 S 2 0 1 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B,MMP23A,NADK,SLC35E2 NA18505 nsv834091 1 1632798 1812077 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443851 S 95 0 1 CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2 nsv482168 1 1634170 1655791 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558529 S 1 1 0 CDK11A,CDK11B KB1 nsv822475 1 1635000 1680585 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439447 S 31 1 0 CDK11A,CDK11B,SLC35E2 NA18537 nsv822586 1 1635201 1650813 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438578 S 31 1 0 CDK11A,CDK11B NA18973 nsv822697 1 1635205 1667157 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422355 S 31 0 1 CDK11A,CDK11B,SLC35E2 NA18552 essv725 1 1646789 1688192 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B,NADK,SLC35E2 NA18940 nsv822809 1 1647869 1667157 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431056 S 31 0 1 CDK11A,CDK11B,SLC35E2 AK18 nsv509368 1 1648331 1648331 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623768 S 4 1 0 CDK11A,CDK11B NA18994 nsv436733 1 1648626 1648695 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466139 S 2 1 0 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B NA18505 esv43348 1 1648700 1650836 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38577 S 6 0 1 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B NA19240 esv162811 1 1648969 1650600 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv513406,essv496169,essv516646,essv517120,essv539727,essv520638,essv520491,essv534246,essv524856,essv521234,essv533274,essv540218 M 185 0 12 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B NA18537,NA18561,NA18563,NA18566,NA18576,NA18593,NA18608,NA18609,NA18940,NA18951,NA18959,NA18965 esv37760 1 1648972 1649437 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122796,essv122644 M 6 0 2 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B NA19238,NA19239 esv41470 1 1648992 1649152 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112551 S 6 0 1 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B NA12878 nsv159838 1 1649026 1649076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178416 M 24 CDK11A,CDK11B esv988165 1 1649051 1649101 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3570116 S 3 0 1 CDK11A,CDK11B HuRef esv1455500 1 1649063 1649114 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050580 S 2 0 1 CDK11A,CDK11B HuRef nsv160496 1 1649094 1649144 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179074 M 24 CDK11A,CDK11B esv39353 1 1649435 1650098 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122638 S 6 0 1 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B NA19239 esv38918 1 1649543 1650455 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122146 S 6 0 1 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B NA19240 nsv160062 1 1649716 1650677 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178640 M 24 CDK11A,CDK11B dgv7279e59 1 1649977 1650812 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv38885,esv38973,esv42336 M 6 0 8 CDK11A,CDK11B NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv39015 1 1649981 1650480 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122614 S 6 0 1 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B NA19239 esv6106 1 1650059 1650537 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28547 S 1 0 1 CDK11A,CDK11B SJK nsv160158 1 1650603 1650603 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178736 M 24 CDK11A,CDK11B esv40264 1 1672423 1698360 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111181 S 6 0 1 Samples from several populations that are part of the HapMap project. NADK,SLC35E2 NA12878 esv160217 1 1676116 1678965 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461443,essv470966,essv492307,essv485444,essv475862,essv480405,essv464583,essv458343 M 185 0 8 Samples from several populations that are part of the HapMap project. SLC35E2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv164501 1 1681006 1681106 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv542689,essv542913 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA11992,NA18522 esv1736683 1 1681067 1681067 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785632 S 2 1 0 "" HuRef esv160709 1 1689541 1692040 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476093,essv479629,essv464859,essv462036,essv484473,essv471835,essv459047,essv491960 M 185 0 8 Samples from several populations that are part of the HapMap project. NADK NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36359 1 1708941 1711215 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114252,essv115834 M 6 0 2 Samples from several populations that are part of the HapMap project. NADK NA12878,NA19239 esv40985 1 1713507 1713919 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111903 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv162797 1 1728364 1728639 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv500241,essv537629,essv523486 M 185 0 3 Samples from several populations that are part of the HapMap project. GNB1 NA11831,NA11920,NA11993 nsv834335 1 1744910 1933405 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443962 S 95 0 1 CALML6,GNB1,KIAA1751,TMEM52 esv2619193 1 1771014 1777460 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5309496 S 1 0 1 GNB1 NA18507 esv164851 1 1777249 1777298 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv545457,essv546220,essv551483,essv543151 M 185 0 4 Samples from several populations that are part of the HapMap project. GNB1 NA11881,NA12249,NA12763,NA18550 esv42901 1 1792030 1792226 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123231 S 6 0 1 Samples from several populations that are part of the HapMap project. GNB1 NA12878 dgv7280e59 1 1820391 1824290 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35838,esv35597 M 6 0 5 GNB1 NA12878,NA19238,NA19239,NA19240 nsv10272 1 1820454 1823312 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28535,nssv21437,nssv29276,nssv28034,nssv21432,nssv28028,nssv24617,nssv21434,nssv21422,nssv21425,nssv28930,nssv28044,nssv24619,nssv24607,nssv21440,nssv18097,nssv26884 M 31 17 0 Samples from several populations that are part of the HapMap project. GNB1 NA07029,NA07048,NA10847,NA10863,NA11830,NA12740,NA12872,NA18502,NA18504,NA18517,NA18552,NA18563,NA18572,NA18853,NA19007,NA19144,NA19173 esv160207 1 1820616 1823465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458625,essv461535,essv492685,essv485593,essv480406,essv465322,essv471728,essv475660 M 185 0 8 Samples from several populations that are part of the HapMap project. GNB1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv159880 1 1821616 1824465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461919,essv458756,essv464228,essv480296,essv471272,essv491904,essv475423,essv485039 M 185 0 8 Samples from several populations that are part of the HapMap project. GNB1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1824206 1 1823070 3711287 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4423100 S 6 1 0 ACTRT2,ARHGEF16,C1orf86,C1orf93,CALML6,CCDC27,FLJ42875,GABRD,HES5,KIAA1751,LOC100129534,LOC100133445,LOC115110,LOC388588,LRRC47,MEGF6,MIR4251,MIR551A,MMEL1,MORN1,PANK4,PEX10,PLCH2,PRDM16,PRKCZ,RER1,SKI,TMEM52,TNFRSF14,TP73,TP73-AS1,TPRG1L,TTC34,WRAP73 NA18576 esv40894 1 1823862 1824087 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111514 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7281e59 1 1828391 1831490 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35541,esv37576 M 6 0 2 "" NA19239,NA19240 esv160405 1 1828941 1831440 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476429,essv484760,essv461481,essv471041,essv464623,essv479414,essv458505,essv492239 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161660 1 1839316 1841865 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485284,essv480265,essv462030,essv458648,essv471379,essv464824,essv476221,essv491461 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv10383 1 1846615 1859881 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24603 S 31 1 0 Samples from several populations that are part of the HapMap project. CALML6,TMEM52 NA18502 esv159671 1 1854516 1857065 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464813,essv492032,essv458599,essv484977,essv479729,essv461518,essv470763,essv475825 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36706 1 1854691 1857040 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116154,essv115116,essv114545,essv113180 M 6 0 4 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239 esv161185 1 1855241 1856440 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv431224,essv487256,essv492828,essv479037,essv433793,essv494766,essv439746,essv462817,essv493781,essv432483,essv436253,essv474790,essv441668,essv448084,essv472701,essv482390,essv474148,essv453285,essv477237,essv447336,essv469503,essv493078,essv467674,essv468874,essv488806,essv495717,essv484179,essv444683,essv490671,essv466444,essv434362,essv446481,essv444172,essv478009,essv443281,essv484750,essv463441,essv457278,essv442303,essv456125,essv483097,essv454228,essv433245,essv429596,essv448875,essv470269,essv489482,essv431484,essv466156,essv486633,essv478284,essv480938,essv437277,essv436313,essv450061,essv451094,essv471994,essv476739,essv454567,essv463955,essv460557,essv456279,essv457779,essv438298 M 185 0 64 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv160932 1 1855616 1858465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471768,essv492203,essv464489,essv485424,essv458759,essv461126,essv480080,essv475802 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv39190 1 1859406 1862548 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123120 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv2587332 1 1860515 1860964 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5262341 S 1 1 0 "" NA18507 nsv512709 1 1860724 1860864 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625333 S 1 1 0 "" 1 esv161143 1 1863691 1868990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv489275,essv478961,essv440378,essv435313,essv459492,essv486770,essv494365,essv470164,essv468510,essv468235,essv452783,essv485945,essv447892,essv442708,essv439726,essv446328,essv457530,essv454789,essv452074,essv440636,essv437773,essv445017,essv488059,essv441209,essv492882,essv455462,essv456640,essv466810,essv446628,essv479703,essv473582,essv450303,essv429871,essv430486,essv457079,essv474449,essv493592,essv465729,essv438148,essv483510,essv473362,essv463464,essv433602,essv495020,essv444524,essv436821,essv437710,essv487383,essv487698,essv465576,essv447770,essv490025 M 185 0 52 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11831,NA11919,NA11931,NA11992,NA12003,NA12155,NA12249,NA12489,NA12717,NA12751,NA12763,NA12828,NA18489,NA18498,NA18502,NA18510,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18577,NA18582,NA18593,NA18603,NA18608,NA18861,NA18871,NA18907,NA18916,NA18953,NA18956,NA18967,NA18971,NA18972,NA18973,NA18975,NA18981,NA19098,NA19108,NA19119,NA19129,NA19152,NA19153,NA19159 dgv1505e59 1 1865116 1868265 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161496,esv160602 M 185 0 16 "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv1506e59 1 1866239 1867105 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv163897,esv163540 M 185 0 102 "" NA06986,NA07000,NA07037,NA07347,NA11831,NA11992,NA12003,NA12144,NA12489,NA12717,NA12749,NA12761,NA12892,NA18489,NA18498,NA18502,NA18508,NA18511,NA18517,NA18519,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18555,NA18561,NA18562,NA18566,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18593,NA18608,NA18609,NA18856,NA18861,NA18870,NA18871,NA18907,NA18916,NA18940,NA18942,NA18944,NA18948,NA18952,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19093,NA19129,NA19138,NA19172,NA19190,NA19210,NA19239,NA19257 esv6744 1 1866297 1867082 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29185 S 1 0 1 "" SJK esv5421 1 1866304 1867172 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27862 S 1 0 1 Single Asian sample YH "" YH esv38673 1 1866361 1867094 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122539 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv160136 1 1867391 1871590 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv460069,essv482666,essv449212,essv487844,essv455504,essv439533,essv478919,essv487330,essv433696,essv469468,essv440112,essv461058 M 185 0 12 Samples from several populations that are part of the HapMap project. "" NA10847,NA12155,NA12813,NA12878,NA18504,NA18517,NA18526,NA18547,NA18579,NA18592,NA18981,NA19153 esv35279 1 1868191 1871790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115495 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv38285 1 1869007 1873390 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121780 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12892 esv161281 1 1875291 1879590 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv452716,essv462946,essv477336,essv481523,essv469374,essv435749,essv460255,essv445254,essv470671,essv494678,essv452527,essv447973,essv456809,essv452077,essv446879,essv460935,essv459873,essv443113,essv495464,essv479381,essv439202,essv450388,essv435229,essv472100,essv482474,essv452259,essv491950,essv442356,essv439716 M 185 0 29 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07347,NA11992,NA12003,NA12006,NA12044,NA12489,NA12717,NA12763,NA12813,NA12878,NA12892,NA18504,NA18552,NA18592,NA18853,NA18943,NA18961,NA18967,NA18974,NA18976,NA18981,NA19005,NA19119,NA19160,NA19172,NA19238,NA19240 esv160125 1 1876341 1878840 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491394,essv459037,essv464614,essv485645,essv479607,essv471493,essv476496,essv461357 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv42661 1 1882831 1883010 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112403 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv834446 1 1892043 2087874 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444073 S 95 0 1 GABRD,KIAA1751,PRKCZ esv2381744 1 1899196 1899525 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505691 S 1 0 1 KIAA1751 NA18507 esv166198 1 1899209 1899533 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162437 S 185 0 8 Samples from several populations that are part of the HapMap project. KIAA1751 NA07037,NA07357,NA11830,NA11919,NA12003,NA12155,NA12249,NA12761 esv39211 1 1899213 1899556 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121586 S 6 0 1 Samples from several populations that are part of the HapMap project. KIAA1751 NA12892 esv161654 1 1900291 1904890 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv463034,essv459577,essv435218,essv443594,essv447874,essv480047,essv466391,essv468305,essv494380,essv482703,essv487851 M 185 0 11 Samples from several populations that are part of the HapMap project. KIAA1751 NA07346,NA07347,NA10851,NA11919,NA12003,NA12043,NA18510,NA18517,NA18552,NA18579,NA18967 esv41895 1 1900306 1900484 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111160 S 6 0 1 Samples from several populations that are part of the HapMap project. KIAA1751 NA12878 esv42908 1 1900434 1900535 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123314 S 6 0 1 Samples from several populations that are part of the HapMap project. KIAA1751 NA12878 esv159681 1 1901141 1903640 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv459001,essv485150,essv470825,essv465020,essv480016,essv461876,essv491387,essv476199 M 185 0 8 Samples from several populations that are part of the HapMap project. KIAA1751 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37487 1 1901191 1903990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115691 S 6 0 1 Samples from several populations that are part of the HapMap project. KIAA1751 NA19240 esv166241 1 1902245 1902873 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162916 S 185 0 3 Samples from several populations that are part of the HapMap project. KIAA1751 NA18505,NA19108,NA19239 esv161601 1 1908591 1913290 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv452549,essv483081,essv480081,essv472035,essv447911,essv435755,essv446236,essv482520,essv483993,essv474501,essv473552,essv481740,essv487819,essv486381,essv456642,essv453420,essv481215,essv434698,essv452140,essv481606,essv451405,essv460948,essv482095,essv475253,essv445766,essv468150,essv485599,essv494640,essv445285,essv478762,essv449612,essv438092,essv491984,essv437637,essv432500,essv460204,essv487047,essv466647 M 185 0 38 Samples from several populations that are part of the HapMap project. KIAA1751 NA06994,NA07051,NA07346,NA07347,NA07357,NA11919,NA11993,NA11995,NA12043,NA12144,NA12154,NA12489,NA12750,NA12763,NA12776,NA12891,NA12892,NA18504,NA18517,NA18519,NA18523,NA18526,NA18542,NA18552,NA18558,NA18564,NA18608,NA18858,NA18943,NA18953,NA18961,NA18976,NA19114,NA19159,NA19172,NA19200,NA19238,NA19240 esv161243 1 1909316 1911865 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492202,essv461769,essv471586,essv485506,essv459157,essv464579,essv479861,essv476017 M 185 0 8 Samples from several populations that are part of the HapMap project. KIAA1751 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv43266 1 1909741 1912940 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv35501,esv37446 M 6 0 2 Samples from several populations that are part of the HapMap project. KIAA1751 NA12891 esv161106 1 1910116 1912965 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461348,essv464618,essv458412,essv485300,essv479422,essv492628,essv475793,essv470953 M 185 0 8 Samples from several populations that are part of the HapMap project. KIAA1751 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1833966 1 1910371 1913760 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4399589 S 6 1 0 KIAA1751 NA10851 esv25575 1 1910377 1913930 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17032,esv21134,esv13192 M 451 2 20 KIAA1751 NA06985,NA07037,NA11993,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18517,NA18858,NA18861,NA18916,NA19114,NA19147,NA19190,NA19257 dgv1507e59 1 1911097 1911422 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv165850,esv163454 M 185 0 86 KIAA1751 NA07037,NA07051,NA07347,NA07357,NA11829,NA11831,NA11919,NA11995,NA12045,NA12154,NA12156,NA12287,NA12414,NA12489,NA12749,NA12750,NA12761,NA12763,NA12776,NA12813,NA12878,NA12891,NA18486,NA18489,NA18501,NA18502,NA18505,NA18507,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18542,NA18545,NA18547,NA18550,NA18552,NA18563,NA18564,NA18570,NA18577,NA18579,NA18592,NA18603,NA18638,NA18853,NA18856,NA18858,NA18861,NA18871,NA18912,NA18943,NA18947,NA18948,NA18951,NA18953,NA18959,NA18961,NA18965,NA18976,NA18981,NA19099,NA19114,NA19119,NA19131,NA19144,NA19147,NA19152,NA19153,NA19159,NA19160,NA19200,NA19201,NA19204,NA19209,NA19225,NA19238,NA19257 esv166185 1 1911391 1911999 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163296 S 185 0 4 Samples from several populations that are part of the HapMap project. KIAA1751 NA11920,NA18576,NA18638,NA19108 esv43743 1 1912790 1913335 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38403 S 6 0 1 Samples from several populations that are part of the HapMap project. KIAA1751 NA19240 esv994854 1 1912935 1913740 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586225 S 3 0 1 KIAA1751 HuRef esv1576320 1 1913325 1913325 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312046 S 2 1 0 KIAA1751 HuRef esv1718201 1 1925158 1925158 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140788 S 2 1 0 KIAA1751 HuRef esv161223 1 1949716 1952265 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476159,essv465415,essv485466,essv458629,essv461499,essv479540,essv470938,essv491219 M 185 0 8 Samples from several populations that are part of the HapMap project. GABRD NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv41780 1 1960099 1960537 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110549 S 6 0 1 Samples from several populations that are part of the HapMap project. GABRD NA19240 esv159939 1 1972341 1974840 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461539,essv459208,essv465211,essv480224,essv485455,essv470721,essv491364,essv475881 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv163935 1 1972476 1972840 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv515413,essv522024 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA06986,NA12828 esv161331 1 1975116 1977665 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476244,essv485862,essv492064,essv461949,essv479825,essv465383,essv458510,essv471771 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161172 1 1980616 1983465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492243,essv464595,essv458703,essv470973,essv479541,essv484816,essv461288,essv476010 M 185 0 8 Samples from several populations that are part of the HapMap project. PRKCZ NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37718 1 1980691 1983040 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114594 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA12878 nsv822920 1 1988267 1990556 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436323 S 31 1 0 PRKCZ NA18542 esv39138 1 1994618 2176784 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121676,essv121297 M 6 0 2 Samples from several populations that are part of the HapMap project. C1orf86,PRKCZ,SKI NA12891,NA12892 nsv2520 1 1994733 2021060 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1058 S 9 1 0 PRKCZ NA19240 nsv509479 1 2003750 2108437 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619761,nssv619762 M 4 2 0 PRKCZ NA10860 esv40968 1 2016955 2017286 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112154 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA12878 esv1002714 1 2017029 2017029 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3575233 S 3 1 0 PRKCZ HuRef esv1162822 1 2017221 2017221 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3941411 S 2 1 0 PRKCZ HuRef nsv3631 1 2022744 2056952 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7778 S 9 1 0 PRKCZ NA12156 nsv470681 1 2024064 2113565 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547651 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKCZ HGDP00697 esv27078 1 2024543 2027403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16667 S 451 0 2 PRKCZ NA18508,NA19240 esv165557 1 2024555 2027384 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162230,esv163710,esv162910 M 185 0 43 Samples from several populations that are part of the HapMap project. PRKCZ NA07051,NA07346,NA07347,NA11829,NA11831,NA11919,NA11992,NA11993,NA12004,NA12044,NA12717,NA12750,NA12751,NA12763,NA12892,NA18486,NA18504,NA18508,NA18516,NA18520,NA18522,NA18523,NA18853,NA18871,NA18953,NA18967,NA18972,NA18974,NA18976,NA18981,NA19116,NA19138,NA19144,NA19152,NA19159,NA19172,NA19238,NA19239,NA19240 esv43292 1 2024555 2027384 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39775,esv38764,esv39693,esv40550,esv39435,esv36766,esv39113,esv35917 M 6 0 15 Samples from several populations that are part of the HapMap project. PRKCZ NA19239,NA19240 esv4759 1 2037656 2038222 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27200 S 1 0 1 Single Asian sample YH PRKCZ YH dgv1e194 1 2037749 2038273 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2345828,esv1927480 M 1 0 2 PRKCZ NA18507 nsv160060 1 2038311 2038311 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178638 M 24 PRKCZ esv160489 1 2038641 2041440 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491935,essv475366,essv471604,essv480407,essv484584,essv465119,essv458691,essv462136 M 185 0 8 Samples from several populations that are part of the HapMap project. PRKCZ NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv15e188 1 2038732 2069681 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1804294,esv1810938,esv1810984 M 6 0 3 PRKCZ NA18517 esv42841 1 2039297 2040168 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123343 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA12878 nsv460616 1 2040936 2089526 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537157 S 1557 0 1 PRKCZ NINDS_69 esv2196740 1 2041419 2041771 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845456 S 1 0 1 PRKCZ NA18507 esv166425 1 2041461 2041556 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164109 S 185 0 19 Samples from several populations that are part of the HapMap project. PRKCZ NA07000,NA07346,NA07347,NA11920,NA11992,NA11994,NA12003,NA12005,NA12716,NA12717,NA12750,NA18498,NA18519,NA18520,NA18870,NA19093,NA19099,NA19102,NA19138 esv43759 1 2041461 2041650 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37815,esv39387 M 6 0 6 Samples from several populations that are part of the HapMap project. PRKCZ NA12878,NA19238,NA19239,NA19240 nsv834557 1 2049070 2242543 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444739,nssv1445295,nssv1445184,nssv1444517,nssv1444628,nssv1444184,nssv1445073,nssv1444295,nssv1444406,nssv1444962,nssv1444851 M 95 0 11 C1orf86,PRKCZ,SKI esv165584 1 2051291 2056890 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161044 S 185 0 116 Samples from several populations that are part of the HapMap project. PRKCZ NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11894,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12144,NA12155,NA12287,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12813,NA12828,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18504,NA18505,NA18507,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18552,NA18558,NA18562,NA18564,NA18570,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18608,NA18609,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18976,NA18981,NA19005,NA19093,NA19098,NA19099,NA19114,NA19119,NA19137,NA19138,NA19147,NA19152,NA19153,NA19159,NA19160,NA19172,NA19200,NA19201,NA19204,NA19207,NA19225,NA19238,NA19257 esv37070 1 2051691 2056890 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116399 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA19239 esv160914 1 2052516 2055665 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492622,essv480261,essv464845,essv461650,essv458671,essv485349,essv471838,essv475941 M 185 0 8 Samples from several populations that are part of the HapMap project. PRKCZ NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv2492368 1 2052521 2053012 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5343806 S 1 1 0 PRKCZ NA18507 esv41430 1 2052888 2053051 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112794 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA12878 esv43403 1 2052948 2053375 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv41223 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA12878 esv42709 1 2052960 2053195 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111809 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA12878 esv26913 1 2052961 2055975 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15600,esv18512 M 451 7 20 PRKCZ NA06985,NA07037,NA07045,NA11931,NA12004,NA12006,NA12287,NA12489,NA12828,NA12878,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821592 1 2052961 2056045 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420402 S 1 0 1 PRKCZ NA10851 dgv16e188 1 2053205 2055638 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1804967,esv1813183,esv1818926,esv1804990,esv1809218,esv1807482,esv1813542,esv1817596,esv1810754,esv1804765 M 6 0 10 PRKCZ NA18517,NA18576 dgv17e188 1 2053205 2055638 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1791790,esv1831506,esv1840710,esv1796802,esv1832463,esv1835363,esv1833928,esv1802665,esv1804774 M 6 9 0 PRKCZ NA10851,NA12239,NA15510,NA18517 dgv18e188 1 2053205 2058023 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1810329,esv1811770,esv1809691,esv1814183 M 6 0 4 PRKCZ NA18517 esv1810423 1 2053205 2071340 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4399385 S 6 0 1 PRKCZ NA18517 dgv7282e59 1 2053295 2055765 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43739,esv35914 M 6 0 4 PRKCZ NA12878,NA12891,NA19238,NA19240 esv2505453 1 2053384 2056112 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5233482 S 1 0 1 PRKCZ NA18507 esv166249 1 2053477 2054447 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163130 S 185 0 132 Samples from several populations that are part of the HapMap project. PRKCZ NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11919,NA11920,NA11993,NA11994,NA11995,NA12004,NA12006,NA12044,NA12045,NA12144,NA12155,NA12156,NA12287,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12813,NA12828,NA12878,NA12891,NA12892,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18545,NA18547,NA18552,NA18558,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18605,NA18608,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18976,NA18980,NA18981,NA19093,NA19098,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19131,NA19137,NA19138,NA19144,NA19147,NA19153,NA19159,NA19160,NA19171,NA19172,NA19190,NA19200,NA19207,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv4841 1 2053516 2055933 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27282 S 1 0 1 Single Asian sample YH PRKCZ YH dgv19e188 1 2053581 2056735 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1810223,esv1813610 M 6 0 2 PRKCZ NA18517 esv161018 1 2053616 2056865 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491874,essv461275,essv464883,essv480391,essv484600,essv458652,essv471354,essv475943 M 185 0 8 Samples from several populations that are part of the HapMap project. PRKCZ NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1008133 1 2053623 2055810 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586410 S 3 1 0 PRKCZ HuRef esv162537 1 2054341 2055927 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv514133,essv526375,essv534525 M 185 0 3 Samples from several populations that are part of the HapMap project. PRKCZ NA18555,NA18572,NA18582 esv1138741 1 2054545 2054653 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618162 S 2 0 1 PRKCZ HuRef esv40767 1 2055575 2055738 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111705 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA12878 esv2313378 1 2073716 2074039 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884634 S 1 0 1 PRKCZ NA18507 esv4294 1 2073731 2073962 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26735 S 1 0 1 Single Asian sample YH PRKCZ YH esv39980 1 2078898 2079412 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122666 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA19239 esv37983 1 2078956 2079206 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122226 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA19240 esv161808 1 2078958 2079452 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv517459,essv510070,essv501672,essv516984,essv526398,essv497723,essv519941,essv538353,essv526671,essv524841,essv538091,essv513196,essv519619,essv532664,essv535778 M 185 0 15 Samples from several populations that are part of the HapMap project. PRKCZ NA07051,NA11992,NA12749,NA18498,NA18522,NA18526,NA18542,NA18545,NA18555,NA18577,NA18592,NA18608,NA18856,NA18870,NA19102 esv42947 1 2079135 2079960 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123136 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA12878 nsv461727 1 2082489 2182470 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538084 S 1557 0 1 C1orf86,PRKCZ,SKI 1780862101_A esv160032 1 2084691 2089190 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv446889,essv444986,essv437705,essv487685,essv435154,essv441216,essv483897,essv451513,essv456416,essv472375,essv440124,essv439503,essv438161 M 185 0 13 Samples from several populations that are part of the HapMap project. PRKCZ NA06994,NA11831,NA12003,NA12717,NA12750,NA12751,NA12763,NA12813,NA18953,NA18976,NA18981,NA19152,NA19159 dgv7283e59 1 2084991 2088390 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36178,esv36021 M 6 0 2 PRKCZ NA19239,NA19240 dgv20e188 1 2104981 2553758 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1799329,esv1826819 M 6 2 0 C1orf86,C1orf93,HES5,LOC100129534,LOC100133445,LOC115110,MMEL1,MORN1,PANK4,PEX10,PLCH2,PRKCZ,RER1,SKI,TNFRSF14 NA12239,NA15510 esv161182 1 2105716 2108265 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476109,essv461498,essv470836,essv465421,essv480206,essv484975,essv458637,essv492370 M 185 0 8 Samples from several populations that are part of the HapMap project. PRKCZ NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37435 1 2105941 2108040 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114563 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA12878 esv161383 1 2106441 2107540 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv468830,essv452856,essv436648,essv483841,essv477524,essv492041,essv478135,essv485186,essv441558,essv469513,essv438922,essv446726,essv486603,essv429119,essv448274,essv432223,essv443981,essv457404,essv476985,essv436133,essv462462,essv442351,essv474076,essv493792,essv467724,essv439770,essv450041,essv482194,essv490292,essv495281,essv458106,essv445163,essv434547,essv466352,essv481021,essv447533,essv437056,essv454010,essv460668,essv431442,essv483397,essv488572,essv478718,essv465723,essv474730,essv456141,essv463089,essv454678,essv448929,essv432884,essv450808,essv464159,essv438540,essv430876,essv494505,essv433960,essv489532,essv470007,essv456402,essv487165,essv493518,essv472808,essv472200 M 185 0 63 Samples from several populations that are part of the HapMap project. PRKCZ NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv40976 1 2106772 2107019 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111038 S 6 0 1 Samples from several populations that are part of the HapMap project. PRKCZ NA12878 nsv470682 1 2119833 2310193 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547655,nssv547654,nssv547657,nssv547653,nssv547652 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf86,LOC100129534,MORN1,SKI HGDP00288,HGDP00313,HGDP00546,HGDP00657,HGDP00978 esv159894 1 2121141 2123640 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv470858,essv458825,essv484992,essv475822,essv461990,essv479938,essv465210,essv491302 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf86 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv162552 1 2123405 2123829 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528579,essv535599 M 185 0 2 Samples from several populations that are part of the HapMap project. C1orf86 NA11919,NA11992 esv159593 1 2124616 2127665 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458583,essv479944,essv492669,essv471097,essv484725,essv461456,essv464587,essv475521 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf86 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37211 1 2124891 2127340 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113203,essv115898 M 6 0 2 Samples from several populations that are part of the HapMap project. C1orf86 NA19238,NA19239 esv160813 1 2125441 2127190 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv463445,essv438647,essv430869,essv476587,essv472271,essv486295,essv469501,essv465936,essv488782,essv439872,essv439477,essv472649,essv449863,essv494904,essv493386,essv491677,essv454055,essv487388,essv441597,essv474286,essv444934,essv478048,essv458041,essv484043,essv495395,essv456271,essv434621,essv466315,essv443137,essv490605,essv485337,essv446584,essv432998,essv464108,essv474548,essv437426,essv470166,essv447769,essv477096,essv432559,essv467712,essv431932,essv448707,essv442040,essv429608,essv453379,essv448323,essv483633,essv468802,essv450719,essv489617,essv434162,essv493939,essv462353,essv455925,essv443762,essv454822,essv457140,essv478522,essv482181,essv460809,essv480749 M 185 0 62 Samples from several populations that are part of the HapMap project. C1orf86 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv36659 1 2135541 2137840 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116314,essv114043,essv113658 M 6 0 3 Samples from several populations that are part of the HapMap project. C1orf86 NA12878,NA12891,NA19239 esv166503 1 2135991 2137590 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160502,esv160478 M 185 0 72 Samples from several populations that are part of the HapMap project. C1orf86 NA06994,NA07346,NA11830,NA11832,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12287,NA12717,NA12749,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005,NA19257 nsv818111 1 2140261 2156362 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417805 S 112 0 1 "" NA18853 nsv463949 1 2140261 2195117 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539962 S 1557 0 1 SKI 1780862414_A esv35298 1 2141841 2145140 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115467 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv834668 1 2155766 2324377 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450294,nssv1450406,nssv1446961,nssv1448961,nssv1447850,nssv1449295,nssv1448850,nssv1446739,nssv1449628,nssv1450183,nssv1450628,nssv1449961,nssv1449739,nssv1445850,nssv1448406,nssv1445406,nssv1447406,nssv1449517,nssv1446406,nssv1449183,nssv1447739,nssv1445517,nssv1448184,nssv1447628,nssv1445739,nssv1450072,nssv1448072,nssv1445628,nssv1448628,nssv1447961,nssv1449850,nssv1446850,nssv1446295,nssv1447073,nssv1447184,nssv1447295,nssv1448517,nssv1446628,nssv1448739,nssv1450517,nssv1445962,nssv1449406,nssv1448295,nssv1446184,nssv1446517,nssv1449072,nssv1446073,nssv1447517 M 95 0 48 LOC100129534,MORN1,RER1,SKI dgv1508e59 1 2157916 2160865 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160587,esv160511 M 185 0 16 SKI NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37026 1 2158316 2161415 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115345,essv114723,essv113744 M 6 0 3 Samples from several populations that are part of the HapMap project. SKI NA12878,NA12891,NA19240 esv2648351 1 2158465 2160492 CNV Loss McKernan_et_al_2009 19546169 Sequencing Not specified essv5208944 S 1 0 1 SKI NA18507 dgv1509e59 1 2158991 2161665 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv159627,esv160424 M 185 0 72 SKI NA06994,NA07346,NA11830,NA11832,NA11881,NA11993,NA11995,NA12004,NA12006,NA12044,NA12144,NA12156,NA12287,NA12717,NA12749,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005,NA19257 esv160002 1 2173741 2176240 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491841,essv465317,essv475619,essv458608,essv471564,essv479565,essv461951,essv485760 M 185 0 8 Samples from several populations that are part of the HapMap project. SKI NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv40345 1 2174652 2174827 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110612 S 6 0 1 Samples from several populations that are part of the HapMap project. SKI NA19240 nsv465060 1 2180524 2220649 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540916 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SKI HGDP01351 nsv528621 1 2199057 2211849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705251 S 2026 0 1 SKI esv1823838 1 2202258 2485433 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4421314 S 6 1 0 HES5,LOC100129534,LOC115110,MORN1,PANK4,PEX10,PLCH2,RER1,SKI NA18576 esv161425 1 2207091 2211390 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv463014,essv455030,essv467020,essv453768,essv437843,essv442868,essv444712,essv456373,essv466920,essv460830,essv490109,essv435203,essv442963,essv440175,essv430135,essv473464,essv438171,essv449462,essv487805,essv437682 M 185 0 20 Samples from several populations that are part of the HapMap project. SKI NA12003,NA12044,NA12716,NA12751,NA12763,NA12828,NA18489,NA18504,NA18517,NA18603,NA18608,NA18856,NA18871,NA18953,NA18967,NA18981,NA19138,NA19159,NA19201,NA19207 esv161061 1 2208141 2210640 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475581,essv485432,essv462123,essv464863,essv480195,essv471045,essv459086,essv492193 M 185 0 8 Samples from several populations that are part of the HapMap project. SKI NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv43726 1 2211635 2212396 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38421 S 6 0 1 Samples from several populations that are part of the HapMap project. SKI NA19240 dgv21e188 1 2211698 2214040 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1822454,esv1811944,esv1813427,esv1849339,esv1825995 M 6 5 0 SKI NA15510,NA18517,NA18576,NA18980 esv43424 1 2211741 2214640 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37259,esv35383 M 6 0 6 Samples from several populations that are part of the HapMap project. SKI NA12878,NA12891,NA19239,NA19240 dgv22e188 1 2212052 2214040 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1800543,esv1796964 M 6 0 2 SKI NA12239 esv22780 1 2212060 2214175 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20675 S 451 4 10 SKI NA06985,NA11931,NA11993,NA12006,NA12239,NA12287,NA18508,NA18517,NA18523,NA18909,NA18916,NA19108,NA19240,NA19257 esv1252402 1 2212160 2212373 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979301 S 2 0 1 SKI HuRef esv1536883 1 2212641 2212728 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775323 S 2 0 1 SKI HuRef esv1025209 1 2212790 2213005 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025462 S 2 0 1 SKI HuRef esv1682069 1 2213018 2213276 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061538 S 2 0 1 SKI HuRef esv1164473 1 2213301 2213387 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589181 S 2 0 1 SKI HuRef esv40395 1 2227004 2227209 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111760 S 6 0 1 Samples from several populations that are part of the HapMap project. SKI NA12878 nsv823031 1 2234213 2266305 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426364 S 31 1 0 MORN1,SKI AK6 nsv4742 1 2236164 2282202 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3953,nssv10842,nssv8452,nssv5660,nssv1955 M 9 5 0 LOC100129534,MORN1,SKI NA12156,NA12878,NA18555,NA18956,NA19129 esv160729 1 2236916 2239465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492434,essv479908,essv485267,essv476100,essv465294,essv471552,essv461811,essv458684 M 185 0 8 Samples from several populations that are part of the HapMap project. SKI NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv4n67 1 2237528 2241980 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823475,nsv823142,nsv823253,nsv823586 M 31 4 0 SKI AK12,NA18564,NA18951,NA18969 nsv823364 1 2238295 2241002 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437213 S 31 1 0 SKI NA18949 esv159752 1 2240116 2242665 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471420,essv461425,essv459108,essv464355,essv485766,essv492045,essv476079,essv479327 M 185 0 8 Samples from several populations that are part of the HapMap project. SKI NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160494 1 2243341 2245840 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471477,essv458740,essv462241,essv480532,essv485835,essv476303,essv492191,essv464488 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161059 1 2245116 2247965 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471683,essv492240,essv459246,essv485707,essv479552,essv461616,essv464285,essv476447 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35741 1 2245466 2247690 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116461,essv113684,essv113989 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239 esv160313 1 2245941 2247390 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv493553,essv434023,essv457095,essv440083,essv478137,essv448664,essv447505,essv472184,essv486855,essv470444,essv454237,essv494005,essv431733,essv432991,essv494580,essv431184,essv474638,essv476898,essv468955,essv472973,essv492433,essv460486,essv462349,essv474010,essv479155,essv486442,essv442139,essv483687,essv444713,essv466404,essv495207,essv482321,essv434665,essv456797,essv485006,essv457736,essv442911,essv444250,essv446658,essv490666,essv463043,essv483095,essv454432,essv489727,essv456155,essv429095,essv448281,essv467255,essv437192,essv449870,essv465881,essv463828,essv488727,essv438699,essv450754,essv436737,essv432509,essv478463,essv469008,essv477248,essv435781,essv441733,essv481195,essv439258,essv453260 M 185 0 65 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv2502867 1 2255698 2258249 CNV Loss McKernan_et_al_2009 19546169 Sequencing Not specified essv5196708 S 1 0 1 MORN1 NA18507 esv40296 1 2274998 2275436 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110787 S 6 0 1 Samples from several populations that are part of the HapMap project. MORN1 NA19240 esv161084 1 2279116 2281665 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475404,essv458572,essv480202,essv470921,essv464390,essv461082,essv491692,essv484699 M 185 0 8 Samples from several populations that are part of the HapMap project. MORN1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv42888 1 2280060 2280280 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123333 S 6 0 1 Samples from several populations that are part of the HapMap project. MORN1 NA12878 nsv520511 1 2307481 2309082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697462 S 2026 0 1 MORN1 nsv823697 1 2321132 2337358 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426365 S 31 1 0 MORN1,PEX10,RER1 AK6 nsv470684 1 2326009 2847488 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547658,nssv547663,nssv547666,nssv547664,nssv547662,nssv547661,nssv547660,nssv547665,nssv547659,nssv547668,nssv547670,nssv547671,nssv547669 M 443 0 13 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf93,HES5,LOC100133445,LOC115110,MMEL1,PANK4,PEX10,PLCH2,RER1,TNFRSF14,TTC34 HGDP00288,HGDP00290,HGDP00302,HGDP00313,HGDP00333,HGDP00546,HGDP00550,HGDP00556,HGDP00657,HGDP00661,HGDP00789,HGDP00978 esv2631918 1 2332252 2333247 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5353074 S 1 1 0 RER1 NA18507 esv40049 1 2332669 2332896 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112401 S 6 0 1 Samples from several populations that are part of the HapMap project. RER1 NA12878 dgv1n27 1 2333031 2450394 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466171,nsv467282 M 1557 0 2 PANK4,PEX10,PLCH2,RER1 HGDP00607,HGDP00614 nsv512710 1 2333226 2333383 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625334 S 1 1 0 RER1 1 nsv823808 1 2334580 2335834 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436324 S 31 1 0 RER1 NA18542 esv1814740 1 2358944 2362827 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4413642 S 6 0 1 "" NA18517 nsv470685 1 2359981 2450394 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547672 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PANK4,PLCH2 HGDP00720 dgv23e188 1 2359981 2467670 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1804924,esv1846338,esv1797273 M 6 3 0 HES5,PANK4,PLCH2 NA12239,NA18517,NA18980 esv38445 1 2367580 2367869 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122342 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv164168 1 2367618 2368006 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv531849,essv503983,essv521855,essv519521 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA18489,NA18510,NA19102,NA19138 esv164193 1 2367761 2367892 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv550334,essv550779 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA18501,NA18853 esv40000 1 2367799 2368150 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv118584,essv117346,essv116864 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv161898 1 2367807 2368058 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv541332,essv529423,essv507138,essv518809,essv524182,essv508677,essv524892,essv507251,essv521974,essv516223,essv532759 M 185 0 11 Samples from several populations that are part of the HapMap project. "" NA06986,NA10847,NA10851,NA11829,NA12003,NA12144,NA12249,NA12489,NA12716,NA12717,NA12750 esv39114 1 2371696 2372232 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123101 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv988545 1 2371950 2372019 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3577413 S 3 0 1 "" HuRef esv1513739 1 2371997 2371997 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248036 S 2 1 0 "" HuRef esv161006 1 2373916 2376465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484319,essv475687,essv458879,essv480531,essv462055,essv465267,essv471585,essv491317 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35988 1 2374091 2376890 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114893 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv11e1 1 2376254 2380249 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv312,essv8862 M 271 0 0 "" NA18508 esv41842 1 2376962 2377531 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110866 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv160864 1 2380916 2383465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484446,essv492019,essv462078,essv479364,essv465186,essv471713,essv458609,essv476355 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv25748 1 2390213 2391302 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15167,esv12176 M 451 0 12 "" NA06985,NA11894,NA12004,NA12239,NA12287,NA18511,NA18858,NA18909,NA18916,NA19129,NA19147,NA19240 esv43604 1 2390641 2391101 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38679 S 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv166275 1 2390831 2391119 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163476 S 185 0 6 Samples from several populations that are part of the HapMap project. "" NA11920,NA12003,NA12045,NA18502,NA18522,NA19210 esv42804 1 2393472 2393887 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123270 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv989190 1 2393688 2393688 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3583245 S 3 1 0 "" HuRef esv1307242 1 2393777 2393777 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3609131 S 2 1 0 "" HuRef esv160693 1 2397616 2400465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471015,essv476486,essv492547,essv461111,essv480297,essv485089,essv464778,essv459328 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv159709 1 2399741 2402240 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491336,essv480328,essv464717,essv458406,essv484910,essv461731,essv475579,essv471469 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv43842 1 2399817 2400071 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39149 S 6 0 3 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv823920 1 2413744 2483841 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440793 S 31 1 0 HES5,LOC115110,PANK4,PLCH2 NA18969 nsv818222 1 2424122 2485433 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417806,nssv1417514 M 112 0 2 HES5,LOC115110,PANK4,PLCH2 NA18853,NA18968 esv159768 1 2427641 2430440 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491838,essv476252,essv458809,essv464381,essv470814,essv479674,essv485861,essv461466 M 185 0 8 Samples from several populations that are part of the HapMap project. PLCH2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161583 1 2432916 2435465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484609,essv459417,essv480516,essv462174,essv464517,essv491681,essv475372,essv471279 M 185 0 8 Samples from several populations that are part of the HapMap project. PLCH2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv7171 1 2443998 2538071 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5821,nssv10864,nssv4140,nssv10880,nssv9849,nssv4052,nssv10990,nssv9802,nssv2047,nssv1153,nssv9287,nssv6533,nssv1241,nssv5743,nssv6621,nssv2141 M 9 0 0 C1orf93,HES5,LOC100133445,LOC115110,MMEL1,PANK4,TNFRSF14 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv824031 1 2452239 2483097 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426366 S 31 1 0 HES5,LOC115110,PANK4 AK6 esv38782 1 2453531 2454712 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123054 S 6 0 1 Samples from several populations that are part of the HapMap project. PANK4 NA19240 esv2583485 1 2453635 2454448 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5387623 S 1 1 0 PANK4 NA18507 esv1165961 1 2454255 2454255 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796592 S 2 1 0 PANK4 HuRef nsv1 1 2456590 2485433 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv1 S 1 0 0 HES5,LOC115110,PANK4 NA15510 esv36256 1 2456791 2459140 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113121,essv116499 M 6 0 2 Samples from several populations that are part of the HapMap project. PANK4 NA19238,NA19239 esv161202 1 2456916 2459465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv479656,essv458263,essv462122,essv464257,essv485010,essv471035,essv492417,essv475790 M 185 0 8 Samples from several populations that are part of the HapMap project. PANK4 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv1510e59 1 2459916 2463065 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160759,esv160161 M 185 0 16 HES5 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161732 1 2471116 2473665 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461372,essv459406,essv470968,essv485652,essv465298,essv480553,essv492603,essv475604 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv436691 1 2485434 2497301 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466250 S 2 0 0 Samples from several populations that are part of the HapMap project. LOC100133445,TNFRSF14 NA18505 esv39690 1 2485434 2499021 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv113032 S 6 0 1 Samples from several populations that are part of the HapMap project. LOC100133445,TNFRSF14 NA12878 dgv1n47 1 2485434 2499127 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499113,nsv499569,nsv499637 M 9 0 0 LOC100133445,TNFRSF14 dgv1n50 1 2485434 2499127 OTHER Inversion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array nsv513632,nsv513633 M 1 0 0 LOC100133445,TNFRSF14 1 esv1699286 1 2485434 2499127 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4270452 S 2 0 0 LOC100133445,TNFRSF14 HuRef esv2471749 1 2485434 2499127 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing Not specified essv5165573 S 1 0 0 LOC100133445,TNFRSF14 NA18507 nsv824475 1 2493012 2493455 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431952 S 31 0 1 TNFRSF14 NA18972 nsv824364 1 2493012 2494114 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434859 S 31 0 1 TNFRSF14 NA18942 dgv5n67 1 2496335 2497984 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824142,nsv824253 M 31 0 2 "" AK20,NA18972 nsv829648 1 2499128 2572340 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450739 S 95 0 1 C1orf93,MMEL1 esv40971 1 2516386 2516690 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112751 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv159741 1 2517116 2519965 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476261,essv492447,essv471235,essv485781,essv461308,essv480442,essv458429,essv464773 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf93 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161722 1 2522716 2525265 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv465230,essv470961,essv462035,essv459128,essv484458,essv480542,essv492266,essv475929 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf93,MMEL1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35416 1 2522991 2525040 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114649 S 6 0 1 Samples from several populations that are part of the HapMap project. MMEL1 NA12878 esv160237 1 2523441 2524590 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv434163,essv478554,essv453178,essv448752,essv486397,essv478785,essv481194,essv451030,essv454742,essv460407,essv448559,essv494280,essv484556,essv450024,essv440346,essv483161,essv431885,essv429583,essv494799,essv472614,essv475097,essv472464,essv441565,essv438603,essv489717,essv444059,essv443465,essv456481,essv482213,essv444695,essv490630,essv483793,essv466378,essv446670,essv495677,essv457813,essv438917,essv434328,essv436721,essv488597,essv468862,essv431030,essv442195,essv447444,essv477040,essv467604,essv435989,essv474207,essv462603,essv469489,essv477331,essv493148,essv486917,essv432894,essv465883,essv453877,essv491747,essv457299,essv478023,essv456182,essv463284,essv432582,essv470312,essv464035,essv437260 M 185 0 65 Samples from several populations that are part of the HapMap project. MMEL1 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv43681 1 2523647 2524154 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38221 S 6 0 2 Samples from several populations that are part of the HapMap project. MMEL1 NA19239,NA19240 dgv1511e59 1 2523691 2524126 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv164040,esv166104 M 185 0 7 MMEL1 NA11931,NA12761,NA18545,NA18593,NA19114,NA19147 esv160282 1 2537891 2542390 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv483244,essv469626,essv439843,essv466277,essv473102,essv437588,essv437946,essv455597,essv478953,essv493633,essv473533,essv472342,essv460925,essv460187,essv470010 M 185 0 15 Samples from several populations that are part of the HapMap project. MMEL1 NA11920,NA12043,NA12155,NA18504,NA18537,NA18547,NA18566,NA18592,NA18608,NA18871,NA18953,NA18972,NA18976,NA18981,NA19240 nsv428399 1 2553978 3152490 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452575 S 62 1 0 ACTRT2,FLJ42875,MIR4251,MMEL1,PRDM16,TTC34 HGDP00450 esv161198 1 2559116 2561665 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv479685,essv470992,essv461103,essv464482,essv484368,essv458832,essv491998,essv475871 M 185 0 8 Samples from several populations that are part of the HapMap project. MMEL1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36083 1 2559141 2561640 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113122,essv114156 M 6 0 2 Samples from several populations that are part of the HapMap project. MMEL1 NA12878,NA19238 dgv7284e59 1 2560591 2563790 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36071,esv37321 M 6 0 2 MMEL1 NA19239,NA19240 esv37445 1 2565441 2567640 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113192,essv115864 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv21805 1 2565924 2634182 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12016,esv12744,esv16589,esv12824,esv21190,esv18116 M 451 24 8 TTC34 NA06985,NA07037,NA07045,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19190,NA19225,NA19240 nsv511152 1 2566002 2566482 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626021 S 1 0 1 "" 1 esv1931226 1 2566029 2566723 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612274 S 1 0 1 "" NA18507 dgv7285e59 1 2566032 2566735 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39508,esv39148 M 6 0 7 "" NA12878,NA12891,NA19238,NA19239,NA19240 esv163688 1 2566079 2566682 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv526608,essv511766,essv500551,essv525045,essv507338 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA07051,NA11829,NA12154,NA12155,NA12717 esv43171 1 2566131 2566582 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39267,esv38417 M 6 0 8 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv1624207 1 2566517 2566517 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164733 S 2 1 0 "" HuRef esv36591 1 2571666 2573815 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116322,essv114743 M 6 0 2 Samples from several populations that are part of the HapMap project. TTC34 NA12878,NA19239 esv994553 1 2572467 2584079 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565426 S 3 1 0 TTC34 HuRef dgv7286e59 1 2573838 2634220 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37480,esv37709,esv37304,esv35768,esv36569,esv35219,esv37710 M 6 0 8 TTC34 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv36438 1 2575838 2601594 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv121058,essv121181,essv121093 M 6 0 3 Samples from several populations that are part of the HapMap project. TTC34 NA12878,NA12891,NA12892 nsv824586 1 2580468 2583441 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438579 S 31 1 0 TTC34 NA18973 esv43281 1 2580579 2581956 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39498 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA12892 dgv27e188 1 2581475 2631578 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1825540,esv1846800,esv1818666,esv1829091,esv1818910 M 6 5 0 TTC34 NA15510,NA18576,NA18980 nsv161117 1 2583029 2583595 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179695 M 24 TTC34 esv39869 1 2583261 2616399 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv116618,essv118503,essv117359,essv117965 M 6 0 4 Samples from several populations that are part of the HapMap project. TTC34 NA12878,NA12891,NA19239,NA19240 esv1802124 1 2583509 2808930 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4378316 S 6 1 0 TTC34 NA12239 dgv1n6 1 2583559 2591089 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv160392,nsv160178 M 24 TTC34 esv1381913 1 2583570 2583570 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214883 S 2 1 0 TTC34 HuRef nsv820462 1 2583600 2634182 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420513 S 1 1 0 TTC34 NA10851 nsv160953 1 2583700 2584300 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179531 M 24 TTC34 esv39365 1 2583703 2585156 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121740 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA12892 esv39064 1 2583843 2584175 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122583 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 esv39805 1 2583928 2584472 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122195 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19240 nsv160689 1 2583932 2584533 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179267 M 24 TTC34 esv999533 1 2584227 2585069 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3568762 S 3 0 1 TTC34 HuRef esv39981 1 2584460 2585079 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122432,essv122222 M 6 0 2 Samples from several populations that are part of the HapMap project. TTC34 NA19239,NA19240 esv166049 1 2584517 2617373 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164046 S 185 0 45 Samples from several populations that are part of the HapMap project. TTC34 NA11829,NA11919,NA11993,NA11995,NA12044,NA12154,NA12414,NA12717,NA12763,NA12776,NA12813,NA12892,NA18501,NA18502,NA18516,NA18517,NA18520,NA18523,NA18558,NA18853,NA18945,NA18953,NA18967,NA18971,NA18972,NA18973,NA18974,NA18976,NA18981,NA19005,NA19098,NA19116,NA19131,NA19137,NA19138,NA19144,NA19152,NA19159,NA19160,NA19171,NA19200,NA19201,NA19238,NA19239,NA19240 nsv159794 1 2584646 2586332 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178372 M 24 TTC34 esv43320 1 2584723 2586976 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38317 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19238 nsv159997 1 2584875 2585035 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178575 M 24 TTC34 esv37939 1 2584991 2585946 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121680 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA12892 esv38941 1 2585080 2585310 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122537 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 nsv160053 1 2585307 2585307 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178631 M 24 TTC34 esv39355 1 2585594 2585925 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122102 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19240 esv40016 1 2585797 2586304 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122503 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 esv38086 1 2585814 2587041 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122043 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19240 esv8624 1 2586076 2629186 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31065 S 1 0 1 TTC34 SJK esv40014 1 2586580 2587019 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122396,essv121731 M 6 0 2 Samples from several populations that are part of the HapMap project. TTC34 NA12892,NA19239 esv1995006 1 2587683 2609385 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845344 S 1 0 1 TTC34 NA18507 esv999575 1 2587780 2620255 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3575600 S 3 0 1 TTC34 HuRef nsv5853 1 2589270 2614433 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9998,nssv5901 M 9 2 0 TTC34 NA18956,NA19129 esv43531 1 2592279 2603243 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39634 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 esv1159004 1 2593247 2593247 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785302 S 2 1 0 TTC34 HuRef esv1780740 1 2593705 2593786 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117042 S 2 0 1 TTC34 HuRef esv1286791 1 2593876 2593956 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745617 S 2 0 1 TTC34 HuRef esv1001627 1 2593895 2594777 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3584427 S 3 0 1 TTC34 HuRef esv1366162 1 2595413 2595493 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788684 S 2 0 1 TTC34 HuRef esv1701153 1 2595518 2595757 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138724 S 2 0 1 TTC34 HuRef esv990905 1 2596753 2606586 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3573398 S 3 0 1 TTC34 HuRef esv1348726 1 2596826 2596826 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133439 S 2 1 0 TTC34 HuRef esv992616 1 2596961 2601374 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3581681 S 3 0 1 TTC34 HuRef esv1068112 1 2597548 2597548 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882975 S 2 1 0 TTC34 HuRef esv1134902 1 2598419 2598499 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644540 S 2 0 1 TTC34 HuRef esv1460747 1 2599458 2599578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860280 S 2 0 1 TTC34 HuRef esv1312498 1 2600237 2600477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349278 S 2 0 1 TTC34 HuRef esv997173 1 2601369 2601930 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3566822 S 3 0 1 TTC34 HuRef esv1162144 1 2602836 2603358 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966245 S 2 0 1 TTC34 HuRef esv43810 1 2603279 2605555 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38982 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA12892 esv1394797 1 2604440 2604521 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279125 S 2 0 1 TTC34 HuRef nsv160294 1 2604481 2609056 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178872 M 24 TTC34 esv1779754 1 2605181 2605181 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803937 S 2 1 0 TTC34 HuRef esv43536 1 2606964 2610098 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38540 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 esv165801 1 2609260 2616409 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162656 S 185 0 47 Samples from several populations that are part of the HapMap project. TTC34 NA11829,NA11920,NA11993,NA12154,NA12716,NA12717,NA12750,NA12763,NA12813,NA12892,NA18486,NA18489,NA18501,NA18502,NA18504,NA18516,NA18517,NA18520,NA18523,NA18552,NA18558,NA18853,NA18856,NA18967,NA18974,NA18976,NA18981,NA19005,NA19098,NA19114,NA19116,NA19131,NA19137,NA19138,NA19144,NA19147,NA19152,NA19159,NA19160,NA19171,NA19200,NA19201,NA19204,NA19207,NA19238,NA19239,NA19240 esv993173 1 2609759 2610320 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3584575 S 3 0 1 TTC34 HuRef nsv159383 1 2610568 2616269 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177961 M 24 TTC34 esv989273 1 2611513 2614402 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3575900 S 3 0 1 TTC34 HuRef esv1799586 1 2614001 2631142 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4374210 S 6 1 0 TTC34 NA12239 dgv7287e59 1 2614890 2630518 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43522,esv42762 M 6 0 2 TTC34 NA12878,NA19240 esv166272 1 2615032 2626410 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162798 S 185 0 21 Samples from several populations that are part of the HapMap project. TTC34 NA12717,NA12763,NA12892,NA18489,NA18501,NA18516,NA18517,NA18523,NA18967,NA18974,NA18976,NA19116,NA19137,NA19138,NA19152,NA19159,NA19160,NA19171,NA19201,NA19238,NA19240 esv38356 1 2615209 2615714 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122529 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 esv6961 1 2615969 2629031 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29402 S 1 0 1 TTC34 SJK nsv159584 1 2616455 2616815 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178162 M 24 TTC34 nsv6964 1 2616765 2618184 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6711 S 9 1 0 TTC34 NA12156 nsv160877 1 2617977 2623639 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179455 M 24 TTC34 nsv7534 1 2618520 2621299 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4235 S 9 1 0 TTC34 NA12878 esv37924 1 2619609 2620565 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122383 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 nsv160247 1 2620307 2622675 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178825 M 24 TTC34 esv43612 1 2621118 2622694 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38362 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA12892 esv37908 1 2622327 2623604 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122421 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 esv166090 1 2622603 2627654 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162164 S 185 0 32 Samples from several populations that are part of the HapMap project. TTC34 NA11993,NA11995,NA12717,NA12750,NA12763,NA12813,NA12878,NA12892,NA18501,NA18516,NA18517,NA18520,NA18953,NA18967,NA18974,NA18976,NA18981,NA19005,NA19114,NA19116,NA19137,NA19138,NA19144,NA19152,NA19159,NA19160,NA19171,NA19200,NA19201,NA19238,NA19239,NA19240 nsv160029 1 2622815 2628837 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178607 M 24 TTC34 nsv160879 1 2623117 2625882 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179457 M 24 TTC34 nsv159137 1 2623263 2623383 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177715 M 24 TTC34 nsv160272 1 2623929 2633004 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178850 M 24 TTC34 dgv7288e59 1 2624372 2625130 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39223,esv39553 M 6 0 2 TTC34 NA12878,NA19239 nsv160341 1 2626290 2627173 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178919 M 24 TTC34 esv39865 1 2626986 2629254 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121793 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA12892 esv40002 1 2627055 2627340 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122362 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 esv38420 1 2628053 2628736 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122562 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 esv38033 1 2629211 2629480 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122568 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 esv6481 1 2629981 2630289 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28922 S 1 0 1 TTC34 SJK esv38457 1 2630226 2630521 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122492 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 esv1095177 1 2632561 2632561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698632 S 2 1 0 TTC34 HuRef nsv160000 1 2632791 2632990 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178578 M 24 TTC34 nsv159461 1 2633264 2634106 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178039 M 24 TTC34 dgv7289e59 1 2684221 2693090 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35452,esv35890,esv37240,esv37028,esv37530,esv37368 M 6 0 6 TTC34 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv23086 1 2684255 2694960 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10077,esv19931 M 451 12 2 TTC34 NA07037,NA12287,NA12489,NA18502,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA19099,NA19190,NA19225,NA19240 nsv821258 1 2684255 2695040 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420624 S 1 1 0 TTC34 NA10851 esv1811461 1 2684502 2691855 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4395825 S 6 0 1 TTC34 NA18517 esv1848768 1 2684502 2694040 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4396129 S 6 1 0 TTC34 NA18980 esv43253 1 2687894 2691665 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37951 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA12892 esv39851 1 2687964 2688614 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122746 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19238 esv39269 1 2689052 2689479 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122658 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19239 esv1845696 1 2689292 2692894 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4377573 S 6 1 0 TTC34 NA18980 esv1006680 1 2689524 2689683 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3585900 S 3 0 1 TTC34 HuRef esv1125194 1 2690111 2691077 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352306 S 2 0 1 TTC34 HuRef esv43238 1 2701740 2701816 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv41305 S 6 0 1 Samples from several populations that are part of the HapMap project. TTC34 NA19240 esv159665 1 2705116 2707665 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484332,essv471065,essv479423,essv461582,essv464449,essv459240,essv476146,essv492758 M 185 0 8 Samples from several populations that are part of the HapMap project. TTC34 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36273 1 2713891 2716690 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114510 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv37655 1 2735691 2737990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116327 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv161759 1 2737641 2740440 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv459158,essv461927,essv484596,essv470900,essv480150,essv464626,essv476446,essv491218 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161831 1 2739604 2739888 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv522164,essv527216,essv527584 M 185 0 3 Samples from several populations that are part of the HapMap project. "" NA06986,NA11918,NA12156 nsv469835 1 2740701 2922551 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649856 M 265 0 Samples from several populations that are part of the HapMap project. "" esv161837 1 2752623 2752962 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv506843,essv529029 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501 esv164540 1 2765835 2766003 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv551387,essv544803,essv550694,essv545131,essv543117 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA07037,NA12716,NA12750,NA18520,NA18871 esv163789 1 2765850 2766311 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv510296,essv508879,essv514353,essv530644,essv539290,essv519290,essv532061,essv500499,essv502768,essv502137,essv512680,essv537892,essv533078,essv539884,essv514042 M 185 0 15 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA11993,NA12043,NA12761,NA12763,NA18505,NA18511,NA18550,NA18562,NA18577,NA18582,NA18944,NA18956,NA19129 esv2455629 1 2765957 2766825 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5201421 S 1 1 0 "" NA18507 esv1778376 1 2766029 2766029 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921204 S 2 1 0 "" HuRef esv43064 1 2768166 2770612 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39510 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv2606115 1 2768287 2769751 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5324371 S 1 0 1 "" NA18507 esv1145877 1 2768645 2768645 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076825 S 2 1 0 "" HuRef nsv455662 1 2769542 2829551 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533180 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00515 esv1008548 1 2772784 2776125 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564145 S 3 1 0 "" HuRef esv42809 1 2779748 2780010 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123184 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv41344 1 2780201 2780727 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112657 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv521946 1 2787093 2789108 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694715 S 2026 0 1 "" dgv30e188 1 2792801 2853759 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1798005,esv1840829,esv1850324 M 6 0 3 "" NA10851,NA12239,NA18980 esv160431 1 2805941 2807190 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv448067,essv448704,essv480592,essv431540,essv460674,essv437345,essv472127,essv450725,essv432300,essv434641,essv457431,essv483615,essv442394,essv429439,essv475072,essv463812,essv446917,essv491746,essv490702,essv466093,essv486698,essv488965,essv495490,essv469463,essv444036,essv456907,essv466363,essv482107,essv445158,essv439089,essv477715,essv443272,essv457875,essv484175,essv470228,essv438679,essv478357,essv486919,essv441979,essv453220,essv434286,essv474227,essv476659,essv468474,essv454529,essv453997,essv494498,essv450301,essv463264,essv431284,essv439773,essv455848,essv477358,essv472771 M 185 0 54 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18944,NA18947,NA18948,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18971,NA18972,NA18973,NA18974,NA18976,NA18980,NA18981,NA19005 esv161227 1 2811091 2815790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv489953,essv468198,essv437943,essv480378,essv455607,essv437721 M 185 0 6 Samples from several populations that are part of the HapMap project. "" NA07346,NA11919,NA12155,NA12828,NA18871,NA18953 dgv7290e59 1 2811791 2815090 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37439,esv35694,esv35810 M 6 0 3 "" NA19238,NA19239,NA19240 esv163176 1 2827979 2828293 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv531729,essv519544 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA18510,NA19102 dgv7291e59 1 2830991 2834190 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36464,esv37721 M 6 0 2 "" NA19239,NA19240 esv165613 1 2837835 2837902 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164619 S 185 0 7 Samples from several populations that are part of the HapMap project. "" NA18532,NA18547,NA18550,NA18555,NA18571,NA18916,NA18956 nsv159525 1 2837836 2837903 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178103 M 24 "" esv160713 1 2842116 2844665 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476361,essv465101,essv479548,essv459348,essv484988,essv471105,essv462246,essv492471 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161524 1 2852491 2856890 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv481025,essv439431,essv437811,essv446070,essv455574,essv450376,essv493963,essv482854 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA11992,NA11994,NA12155,NA12813,NA18579,NA18609,NA18871,NA18945 dgv7292e59 1 2859791 2863190 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37440,esv37069 M 6 0 2 "" NA19239,NA19240 esv36332 1 2865391 2867615 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113837,essv115111,essv114809,essv116521 M 6 0 4 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv1009726 1 2866138 2866284 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3577776 S 3 0 1 "" HuRef esv1533261 1 2866372 2866519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287368 S 2 0 1 "" HuRef esv2132425 1 2876448 2876895 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889243 S 1 0 1 "" NA18507 esv38498 1 2876486 2876867 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv117732,essv117128,essv117525,essv118580 M 6 0 4 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19240 dgv7293e59 1 2876508 2876788 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43160,esv41808 M 6 0 5 "" NA12878,NA12891,NA19238,NA19240 dgv1512e59 1 2876517 2876820 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv166424,esv164128 M 185 0 19 "" NA07000,NA07357,NA11894,NA12287,NA18498,NA18517,NA18519,NA18542,NA18550,NA18570,NA18579,NA18582,NA18638,NA18858,NA18909,NA18912,NA19093,NA19257 esv41197 1 2876535 2876704 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112357 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv3109 1 2876559 2876831 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25550 S 1 0 1 Single Asian sample YH "" YH esv993932 1 2876594 2876713 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3566726 S 3 0 1 "" HuRef esv1703346 1 2876601 2876721 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656039 S 2 0 1 "" HuRef esv160769 1 2878791 2883790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv463088,essv437966,essv475120,essv485759,essv439162 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA11995,NA12776,NA12813,NA18871,NA18967 nsv470686 1 2889577 2984087 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547673 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACTRT2,FLJ42875 HGDP00978 dgv7294e59 1 2891022 2891422 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43581,esv38583 M 6 0 5 "" NA12878,NA19239,NA19240 esv160033 1 2892516 2895065 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464302,essv480386,essv475848,essv459230,essv461462,essv471012,essv492701,essv484515 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv25503 1 2892794 2894919 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21208 S 451 0 2 "" NA12006,NA18907 esv1794684 1 2892959 2894809 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4397812 S 6 1 0 "" NA12239 esv163925 1 2893047 2893580 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv525910,essv518079,essv509729,essv497579,essv538248,essv540151,essv504744,essv530087,essv528959,essv522278,essv503225,essv507749,essv518495,essv508541,essv512625,essv496384,essv539278,essv530037,essv524446,essv498191,essv533389,essv528045,essv522502,essv508819 M 185 0 24 Samples from several populations that are part of the HapMap project. "" NA11881,NA11994,NA12006,NA12043,NA12249,NA12750,NA12878,NA18501,NA18519,NA18526,NA18545,NA18547,NA18552,NA18576,NA18638,NA18871,NA18907,NA18943,NA18956,NA18959,NA18980,NA19093,NA19108,NA19129 esv42401 1 2894359 2894591 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112544 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv164493 1 2902573 2906110 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv550589,essv545812,essv542393,essv543251,essv548349,essv543803,essv546468,essv551157,essv546818 M 185 0 9 Samples from several populations that are part of the HapMap project. "" NA07347,NA12751,NA18523,NA18537,NA18858,NA18916,NA18965,NA19099,NA19239 esv159901 1 2903691 2907990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv451464,essv488439,essv487626,essv444426,essv466168,essv447064,essv483082,essv433608,essv451648,essv439657,essv472203,essv463135,essv483516,essv453852,essv431210,essv449157,essv440026,essv450525,essv437915,essv439376,essv483720,essv466756,essv452058,essv459601,essv442073,essv452339,essv468507,essv482785,essv452741,essv477198,essv446339,essv488574,essv435560 M 185 0 33 Samples from several populations that are part of the HapMap project. "" NA06994,NA10847,NA11992,NA12043,NA12489,NA12750,NA12813,NA18489,NA18510,NA18523,NA18562,NA18563,NA18579,NA18871,NA18960,NA18967,NA18971,NA18972,NA18974,NA18976,NA18981,NA19005,NA19098,NA19119,NA19131,NA19152,NA19153,NA19160,NA19171,NA19200,NA19204,NA19207,NA19209 esv36538 1 2910841 2912840 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115346 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv7294 1 2911489 2911856 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29735 S 1 0 1 "" SJK esv4855 1 2911490 2911934 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27296 S 1 0 1 Single Asian sample YH "" YH esv165523 1 2911537 2911850 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163752,esv164780,esv164035,esv162457,esv163829 M 185 0 293 Samples from several populations that are part of the HapMap project. "" NA06986,NA06994,NA07347,NA11829,NA11830,NA11831,NA11894,NA11918,NA11920,NA11994,NA12043,NA12155,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12776,NA12813,NA12878,NA12891,NA18498,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18520,NA18523,NA18526,NA18537,NA18545,NA18547,NA18552,NA18555,NA18558,NA18563,NA18564,NA18566,NA18572,NA18573,NA18579,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18853,NA18856,NA18858,NA18861,NA18870,NA18907,NA18909,NA18916,NA18940,NA18942,NA18944,NA18945,NA18947,NA18951,NA18953,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA19005,NA19098,NA19099,NA19102,NA19108,NA19114,NA19119,NA19129,NA19131,NA19138,NA19144,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19209,NA19210,NA19238,NA19239,NA19240,NA19257 esv43751 1 2911537 2911850 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39241,esv41886,esv41511,esv38963,esv39800,esv38435 M 6 0 23 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 dgv7295e59 1 2918941 2919470 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39747,esv40871 M 6 0 3 "" NA12878,NA12891 esv166105 1 2919032 2919366 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161787,esv163404,esv162655,esv162231,esv165207 M 185 0 124 Samples from several populations that are part of the HapMap project. "" NA06986,NA06994,NA07347,NA11829,NA11894,NA11918,NA11920,NA11995,NA12043,NA12249,NA12414,NA12489,NA12716,NA12750,NA12813,NA12878,NA12891,NA18486,NA18516,NA18520,NA18522,NA18532,NA18537,NA18545,NA18547,NA18552,NA18555,NA18563,NA18564,NA18572,NA18573,NA18579,NA18605,NA18608,NA18609,NA18940,NA18943,NA18945,NA18947,NA18951,NA18953,NA18959,NA18961,NA18964,NA18973,NA18976,NA19116,NA19152,NA19238 esv43173 1 2919032 2919366 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38405,esv37889,esv42324,esv39199 M 6 0 8 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv42913 1 2919346 2919699 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123238 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv829759 1 2923149 3011137 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450850,nssv1450961 M 95 0 2 ACTRT2,FLJ42875,PRDM16 esv1972331 1 2932833 2933235 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751842 S 1 0 1 "" NA18507 esv38771 1 2932843 2933225 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv118328,essv117100,essv116804 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv160527 1 2940491 2944990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv444503,essv456765,essv483589,essv462955,essv482938,essv437698,essv439019,essv479950,essv441335,essv449208,essv453762,essv440255,essv452207,essv438027 M 185 0 14 Samples from several populations that are part of the HapMap project. "" NA07346,NA10847,NA12045,NA12763,NA12813,NA18953,NA18967,NA18972,NA18981,NA19098,NA19159,NA19160,NA19200,NA19207 esv36789 1 2941191 2944290 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115314 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv2494725 1 2942135 2943124 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5336919 S 1 1 0 "" NA18507 esv41627 1 2942762 3177357 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110513,essv111613 M 6 0 2 Samples from several populations that are part of the HapMap project. FLJ42875,MIR4251,PRDM16 NA12878,NA19240 esv42960 1 2943951 2946607 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123359 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160826 1 2954291 2958690 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv437594,essv439892,essv462236,essv455644,essv482575,essv431204 M 185 0 6 Samples from several populations that are part of the HapMap project. "" NA11830,NA12155,NA18562,NA18953,NA18981,NA19172 nsv160478 1 2959267 2959267 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179056 M 24 "" nsv824697 1 2975857 2994712 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426367 S 31 1 0 FLJ42875,PRDM16 AK6 esv160354 1 2979116 2981965 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492710,essv464377,essv471201,essv485314,essv461667,essv480413,essv458649,essv476220 M 185 0 8 Samples from several populations that are part of the HapMap project. FLJ42875 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv1513e59 1 2983916 2986890 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv159923,esv159658 M 185 0 67 FLJ42875,PRDM16 NA06994,NA07346,NA11830,NA11832,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12156,NA12287,NA12717,NA12749,NA12751,NA12761,NA12763,NA12813,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18558,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005,NA19257 esv160991 1 2984916 2987965 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475361,essv484565,essv480205,essv471437,essv461545,essv459241,essv464597,essv491651 M 185 0 8 Samples from several populations that are part of the HapMap project. PRDM16 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37481 1 2985541 2987990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114790,essv115619,essv116213 M 6 0 3 Samples from several populations that are part of the HapMap project. PRDM16 NA12878,NA19239,NA19240 esv159934 1 2985916 2988465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476430,essv492120,essv461467,essv484420,essv479391,essv458880,essv464386,essv470718 M 185 0 8 Samples from several populations that are part of the HapMap project. PRDM16 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv40800 1 3011375 3011586 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111998 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM16 NA12878 dgv7296e59 1 3021086 3021197 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv40357,esv41338,esv40263,esv40347,esv42435 M 6 0 5 PRDM16 NA12878,NA19240 esv161050 1 3028791 3033190 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471957,essv463501,essv463900,essv487659,essv492418,essv486913,essv454983,essv489490,essv456311,essv432097,essv442777,essv461478,essv458111,essv475251,essv444054,essv466443,essv441359,essv449258,essv441219,essv430290,essv487884,essv439690,essv444463,essv469276,essv449506,essv470475,essv438125 M 185 0 27 Samples from several populations that are part of the HapMap project. PRDM16 NA10847,NA11830,NA11831,NA12004,NA12043,NA12045,NA12414,NA12761,NA12763,NA12776,NA18517,NA18526,NA18564,NA18592,NA18603,NA18853,NA18949,NA18951,NA18961,NA18967,NA18976,NA19098,NA19138,NA19152,NA19159,NA19171,NA19201 esv160181 1 3029641 3032640 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461786,essv459384,essv475818,essv470888,essv465209,essv485504,essv480539,essv491844 M 185 0 8 Samples from several populations that are part of the HapMap project. PRDM16 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160423 1 3032491 3036690 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv456466,essv476141,essv478574,essv469053,essv450545,essv479164,essv482756,essv459535,essv437725,essv450766,essv444952,essv442789,essv439002,essv455493,essv461003,essv492947,essv483747,essv466813,essv473278,essv489989,essv483058,essv472308,essv487616,essv437696,essv469779,essv442188 M 185 0 26 Samples from several populations that are part of the HapMap project. PRDM16 NA06994,NA11920,NA11931,NA11992,NA12155,NA12751,NA12763,NA12813,NA12828,NA18489,NA18504,NA18510,NA18547,NA18558,NA18561,NA18579,NA18592,NA18603,NA18871,NA18953,NA18976,NA19005,NA19152,NA19200,NA19239,NA19257 esv160947 1 3043691 3047990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv456922,essv464588,essv492337,essv430349,essv456369,essv451436,essv446008,essv446870,essv481874,essv473983,essv444427,essv472168,essv446364,essv487099,essv473695 M 185 0 15 Samples from several populations that are part of the HapMap project. MIR4251,PRDM16 NA11832,NA11993,NA11994,NA12414,NA12717,NA12750,NA12763,NA18502,NA18523,NA18526,NA18605,NA18961,NA18973,NA18976,NA19098 esv161401 1 3044941 3047440 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492445,essv479621,essv461262,essv484821,essv458258,essv464972,essv471878,essv476231 M 185 0 8 Samples from several populations that are part of the HapMap project. PRDM16 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv41990 1 3053391 3053502 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112735 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM16 NA12878 esv160663 1 3061191 3065390 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv439078,essv470161,essv438188,essv453751,essv439677,essv460177,essv470626,essv481327,essv466469,essv495684,essv471086,essv445975,essv437470,essv490919,essv455100,essv471928 M 185 0 16 Samples from several populations that are part of the HapMap project. PRDM16 NA11994,NA12006,NA12043,NA12154,NA12287,NA12813,NA18537,NA18853,NA18912,NA18953,NA18976,NA19159,NA19171,NA19201,NA19207,NA19240 nsv457884 1 3062361 3104630 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534983 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRDM16 HGDP01234 esv39366 1 3062891 3063515 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121610,essv121355 M 6 0 2 Samples from several populations that are part of the HapMap project. PRDM16 NA12891,NA12892 esv159592 1 3066316 3068865 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475646,essv471260,essv461370,essv484398,essv458994,essv465082,essv480411,essv491782 M 185 0 8 Samples from several populations that are part of the HapMap project. PRDM16 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160039 1 3077491 3081790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv480102,essv438811,essv468192,essv456028,essv446207,essv432678,essv460877,essv488139,essv452143,essv451968,essv459862,essv444067,essv451025,essv436134,essv481333,essv494456 M 185 0 16 Samples from several populations that are part of the HapMap project. PRDM16 NA06986,NA07000,NA07037,NA07346,NA11919,NA12154,NA12489,NA12761,NA18499,NA18504,NA18523,NA18545,NA18552,NA18561,NA18576,NA18943 esv37193 1 3078291 3080990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116251 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM16 NA19239 esv1809090 1 3080855 3086464 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4401054 S 6 0 1 PRDM16 NA18517 esv22935 1 3081707 3082806 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20220 S 451 5 0 PRDM16 NA07037,NA12004,NA12828,NA18523,NA19240 dgv31e188 1 3082067 3086464 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1850036,esv1824554 M 6 0 2 PRDM16 NA18576,NA18980 dgv32e188 1 3082324 3088742 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1796073,esv1838260 M 6 0 2 PRDM16 NA10851,NA12239 esv159952 1 3083116 3085665 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv459115,essv464283,essv475886,essv479756,essv462075,essv471562,essv492322,essv485077 M 185 0 8 Samples from several populations that are part of the HapMap project. PRDM16 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37244 1 3083441 3086015 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113947,essv116597 M 6 0 2 Samples from several populations that are part of the HapMap project. PRDM16 NA12878,NA19239 nsv458995 1 3083712 3113680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535843 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRDM16 HGDP00814 esv159836 1 3083891 3085540 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv448026,essv489796,essv488671,essv462594,essv463337,essv450797,essv441479,essv466059,essv478298,essv483678,essv490301,essv447246,essv494037,essv431290,essv487312,essv432553,essv482247,essv476846,essv431396,essv472575,essv463843,essv472450,essv477969,essv457155,essv469335,essv466410,essv443051,essv445044,essv456471,essv485199,essv443978,essv457673,essv434465,essv446596,essv433150,essv440141,essv494295,essv477099,essv460400,essv481105,essv453338,essv486385,essv454089,essv450229,essv442338,essv469861,essv468590,essv448962,essv435873,essv434279,essv436872,essv438429,essv483506,essv475111,essv473807,essv467353,essv491308,essv456159,essv429617,essv493547,essv479042,essv436707,essv454826,essv439394 M 185 0 64 Samples from several populations that are part of the HapMap project. PRDM16 NA06994,NA11881,NA11993,NA11995,NA12004,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv25107 1 3083952 3084887 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12712 S 451 1 0 PRDM16 NA12156 dgv33e188 1 3084136 3086464 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1848264,esv1801265,esv1813448,esv1804367,esv1845179,esv1850998 M 6 0 6 PRDM16 NA12239,NA18517,NA18980 esv1279453 1 3084534 3084770 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971964 S 2 0 1 PRDM16 HuRef esv39116 1 3092757 3093140 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122553,essv122233 M 6 0 2 Samples from several populations that are part of the HapMap project. PRDM16 NA19239,NA19240 esv160377 1 3095691 3100390 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv482752,essv453933,essv487117,essv472265,essv491323,essv440579,essv442867,essv435215,essv437396,essv493755,essv451602,essv487885,essv478839,essv473569,essv494745 M 185 0 15 Samples from several populations that are part of the HapMap project. PRDM16 NA12003,NA18517,NA18526,NA18547,NA18552,NA18566,NA18579,NA18582,NA18593,NA18603,NA18608,NA18959,NA18960,NA18961,NA18976 esv1001450 1 3097398 3098603 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586288 S 3 0 1 PRDM16 HuRef esv26942 1 3097463 3098803 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18850 S 451 6 0 PRDM16 NA11931,NA12004,NA12006,NA12287,NA12776,NA15510 esv38051 1 3097828 3098107 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122169,essv121685 M 6 0 2 Samples from several populations that are part of the HapMap project. PRDM16 NA12892,NA19240 esv2447933 1 3097910 3097971 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5170486 S 1 0 1 PRDM16 NA18507 nsv160334 1 3098015 3098015 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178912 M 24 PRDM16 esv164912 1 3098118 3098299 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv542675,essv542868 M 185 0 2 Samples from several populations that are part of the HapMap project. PRDM16 NA11992,NA18522 esv38993 1 3098170 3098611 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122693 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM16 NA19238 esv163458 1 3125194 3125552 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv523500,essv535704 M 185 0 2 Samples from several populations that are part of the HapMap project. PRDM16 NA11920,NA11992 nsv829870 1 3126805 3256088 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451294,nssv1451405,nssv1451072,nssv1451183 M 95 0 4 PRDM16 esv42609 1 3130328 3130394 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112936 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM16 NA19240 esv272780 1 3130339 3130424 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581108 S 7 1 0 Samples from several populations that are part of the HapMap project. PRDM16 NA19240 nsv527875 1 3144745 3208830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704374 S 2026 0 1 PRDM16 nsv829981 1 3152592 3333816 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441519,nssv1441663,nssv1441530,nssv1441652,nssv1441596,nssv1441541,nssv1441630,nssv1441641,nssv1441618,nssv1441685,nssv1441607,nssv1441563,nssv1441585,nssv1441552,nssv1441674,nssv1441574 M 95 0 16 PRDM16 esv165108 1 3167866 3167925 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv546928,essv545381,essv549068 M 185 0 3 Samples from several populations that are part of the HapMap project. PRDM16 NA18502,NA18508,NA18948 esv2639320 1 3177065 3177709 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5229663 S 1 1 0 PRDM16 NA18507 esv159779 1 3188091 3192290 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv429875,essv438036,essv432233,essv437798,essv475261,essv447967,essv461055,essv451348,essv432685,essv480214,essv443456,essv468303,essv482985,essv433643,essv442496 M 185 0 15 Samples from several populations that are part of the HapMap project. PRDM16 NA07037,NA07346,NA07347,NA11919,NA12044,NA12249,NA12750,NA12776,NA18504,NA18564,NA18871,NA19005,NA19153,NA19159,NA19200 esv163115 1 3188289 3188619 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv509569,essv535711,essv502489 M 185 0 3 Samples from several populations that are part of the HapMap project. PRDM16 NA07346,NA11992,NA11995 esv42987 1 3204163 3204437 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123354 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM16 NA12878 esv163204 1 3204457 3204898 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv512873,essv535796 M 185 0 2 Samples from several populations that are part of the HapMap project. PRDM16 NA11992,NA12043 esv165441 1 3209819 3212266 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162248 S 185 0 2 Samples from several populations that are part of the HapMap project. PRDM16 NA18552,NA18953 dgv6n67 1 3209858 3211328 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824808,nsv824919 M 31 0 2 PRDM16 AK14,NA18552 nsv7645 1 3214107 3249187 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4419 S 9 1 0 PRDM16 NA12878 nsv161030 1 3214565 3214565 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179608 M 24 PRDM16 esv2582992 1 3215213 3217295 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5311128 S 1 0 1 PRDM16 NA18507 esv2000244 1 3215531 3216456 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511826 S 1 0 1 PRDM16 NA18507 nsv511673 1 3215607 3217688 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626311 S 1 0 1 PRDM16 1 esv1917341 1 3215619 3216216 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748244 S 1 0 1 PRDM16 NA18507 esv43755 1 3215654 3216454 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38624,esv39958,esv37626 M 6 0 4 Samples from several populations that are part of the HapMap project. PRDM16 NA12878,NA19239,NA19240 esv22281 1 3215660 3217110 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11880 S 451 0 11 PRDM16 NA11894,NA12004,NA12006,NA12044,NA12489,NA12878,NA15510,NA18502,NA18511,NA18861,NA19240 esv165793 1 3215669 3217071 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163882,esv161289,esv160073 M 185 0 67 Samples from several populations that are part of the HapMap project. PRDM16 NA06986,NA07346,NA07357,NA10847,NA10851,NA11830,NA11832,NA11894,NA11919,NA11920,NA11992,NA11994,NA11995,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12249,NA12287,NA12414,NA12489,NA12749,NA12761,NA12776,NA12878,NA18502,NA18504,NA18520,NA18523,NA18526,NA18542,NA18547,NA18552,NA18562,NA18563,NA18564,NA18572,NA18573,NA18577,NA18592,NA18593,NA18603,NA18609,NA18856,NA18861,NA18943,NA18945,NA18947,NA18953,NA18956,NA18961,NA18964,NA18972,NA18975,NA18976,NA18981,NA19005,NA19238,NA19240,NA19257 esv1840740 1 3215702 3217074 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4399688 S 6 1 0 PRDM16 NA10851 esv43642 1 3216532 3217150 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37890,esv42767,esv36150 M 6 0 3 Samples from several populations that are part of the HapMap project. PRDM16 NA12878,NA19240 nsv830092 1 3217946 3383373 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441840,nssv1441752,nssv1441707,nssv1441729,nssv1441829,nssv1441763,nssv1441696,nssv1441807,nssv1441796,nssv1441774,nssv1441718,nssv1441785,nssv1441818,nssv1441741 M 95 1 13 ARHGEF16,PRDM16 esv42833 1 3220313 3220787 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123348 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM16 NA12878 esv1834537 1 3225940 3243017 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4415418 S 6 0 1 PRDM16 NA10851 nsv522146 1 3227188 3228915 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694919 S 2026 0 1 PRDM16 esv160172 1 3231091 3235790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv473833,essv440425,essv446214,essv439506,essv490101,essv475134,essv437675 M 185 0 7 Samples from several populations that are part of the HapMap project. PRDM16 NA12776,NA12813,NA12828,NA18523,NA18582,NA18605,NA18953 esv160958 1 3236191 3240490 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv437566,essv487356,essv486585,essv491575,essv450473,essv490372,essv451424,essv440327,essv452702,essv451614,essv487572,essv470509 M 185 0 12 Samples from several populations that are part of the HapMap project. PRDM16 NA11992,NA12156,NA12750,NA18526,NA18542,NA18853,NA18953,NA18960,NA18961,NA18981,NA19119,NA19152 esv37882 1 3242519 3242840 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv118649,essv117200 M 6 0 2 Samples from several populations that are part of the HapMap project. PRDM16 NA19238,NA19240 esv998521 1 3242595 3242653 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3584219 S 3 0 1 PRDM16 HuRef esv1330141 1 3242609 3242668 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645168 S 2 0 1 PRDM16 HuRef esv159888 1 3250791 3255690 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv469520,essv492624,essv450521,essv442901,essv439480,essv448005,essv437519 M 185 0 7 Samples from several populations that are part of the HapMap project. PRDM16 NA07347,NA11992,NA12813,NA18592,NA18603,NA18953,NA18961 dgv7297e59 1 3251391 3255790 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37024,esv37513 M 6 0 2 PRDM16 NA19239,NA19240 esv161597 1 3252341 3254840 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491217,essv464573,essv458749,essv485546,essv461251,essv471052,essv480235,essv476389 M 185 0 8 Samples from several populations that are part of the HapMap project. PRDM16 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv526836 1 3259113 3259183 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703193 S 2026 0 1 PRDM16 esv43524 1 3262270 3262378 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39734 S 6 0 2 Samples from several populations that are part of the HapMap project. PRDM16 NA19238,NA19239 nsv470687 1 3273063 3679774 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547685,nssv547677,nssv547681,nssv547675,nssv547686,nssv547684,nssv547682,nssv547683,nssv547676,nssv547674,nssv547680,nssv547679 M 443 0 12 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF16,CCDC27,MEGF6,MIR551A,PRDM16,TP73,TP73-AS1,TPRG1L,WRAP73 HGDP00288,HGDP00298,HGDP00302,HGDP00546,HGDP00550,HGDP00657,HGDP00825,HGDP00978 dgv7298e59 1 3273889 3276563 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43136,esv38148,esv39016 M 6 0 7 PRDM16 NA19239,NA19240 esv165463 1 3274111 3276459 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164316,esv163486 M 185 0 17 Samples from several populations that are part of the HapMap project. PRDM16 NA18501,NA18502,NA18507,NA18522,NA18861,NA18912,NA18916,NA19147,NA19239,NA19240,NA19257 dgv12e1 1 3288938 3548853 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv386,essv3804 M 271 0 0 ARHGEF16,MEGF6,MIR551A,PRDM16,TPRG1L,WRAP73 NA18943 nsv459950 1 3289729 3301130 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536592 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRDM16 HGDP00788 nsv522900 1 3293665 3294972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698558 S 2026 0 1 PRDM16 esv1841165 1 3293665 3307746 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4391071 S 6 0 1 PRDM16 NA10851 dgv7299e59 1 3294291 3297840 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35404,esv35271 M 6 0 5 PRDM16 NA19238,NA19239,NA19240 nsv524467 1 3308034 3308498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700403 S 2026 0 1 PRDM16 dgv1n21 1 3308034 3314596 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521921,nsv527139 M 2026 2 0 PRDM16 esv161043 1 3316091 3320490 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv446344,essv494559,essv456989,essv482859,essv441193,essv479411,essv447840,essv457642,essv489298,essv474887,essv475178,essv487788,essv455418 M 185 0 13 Samples from several populations that are part of the HapMap project. PRDM16 NA07346,NA07347,NA11831,NA12004,NA12155,NA12776,NA18517,NA18520,NA18523,NA18552,NA18579,NA18947,NA18973 esv160338 1 3322991 3328490 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv449322,essv463000,essv429891,essv437439,essv487695,essv470712,essv440138 M 185 0 7 Samples from several populations that are part of the HapMap project. PRDM16 NA10847,NA12249,NA18853,NA18953,NA18967,NA18981,NA19152 esv35855 1 3323791 3327890 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115444 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM16 NA19240 esv160143 1 3324541 3327040 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv462235,essv491636,essv470846,essv459094,essv484482,essv480321,essv476223,essv464393 M 185 0 8 Samples from several populations that are part of the HapMap project. PRDM16 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37107 1 3325091 3327790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115946 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM16 NA19239 esv1000452 1 3334395 3339966 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565499 S 3 0 1 PRDM16 HuRef esv4712 1 3349953 3350265 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27153 S 1 0 1 Single Asian sample YH PRDM16 YH esv43394 1 3349970 3350275 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38335 S 6 0 4 Samples from several populations that are part of the HapMap project. PRDM16 NA12891,NA19238,NA19239,NA19240 esv166163 1 3350000 3350244 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163026 S 185 0 4 Samples from several populations that are part of the HapMap project. PRDM16 NA18558,NA18561,NA18563,NA18582 nsv830203 1 3362938 3524316 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441863,nssv1441852 M 95 0 2 ARHGEF16,MEGF6,MIR551A nsv160351 1 3367019 3367019 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178929 M 24 "" esv159876 1 3369916 3372465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492021,essv476287,essv465275,essv471856,essv485598,essv458346,essv461817,essv480148 M 185 0 8 Samples from several populations that are part of the HapMap project. ARHGEF16 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv41677 1 3371416 3371597 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112730 S 6 0 1 Samples from several populations that are part of the HapMap project. ARHGEF16 NA12878 esv1794435 1 3374360 3457295 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human1Mv1 DNA Analysis BeadChip essv4382275 S 6 1 0 ARHGEF16,MEGF6 NA12239 esv159893 1 3384391 3389790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv445216,essv449474,essv494936,essv437706,essv455500,essv450562,essv490141,essv456478,essv489242,essv460914,essv470691 M 185 0 11 Samples from several populations that are part of the HapMap project. ARHGEF16 NA11992,NA12155,NA12763,NA12828,NA18504,NA18520,NA18522,NA18853,NA18953,NA19138,NA19238 esv161176 1 3388591 3392790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv449493,essv456442,essv459846,essv442160,essv468202,essv440973,essv467191,essv479495,essv445151,essv444351,essv477020,essv494890 M 185 0 12 Samples from several populations that are part of the HapMap project. ARHGEF16 NA06986,NA07346,NA11831,NA11919,NA12716,NA12751,NA12763,NA18552,NA18572,NA19005,NA19098,NA19138 esv159626 1 3389641 3392440 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471547,essv458497,essv464491,essv485121,essv480408,essv462125,essv476011,essv492767 M 185 0 8 Samples from several populations that are part of the HapMap project. ARHGEF16 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv159570 1 3391441 3392440 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv488987,essv431931,essv466132,essv469950,essv434187,essv489612,essv432839,essv431292,essv432023,essv462974,essv485363,essv493421,essv438674,essv474998,essv443380,essv491829,essv469060,essv436068,essv456993,essv448481,essv441933,essv447321,essv464076,essv478473,essv446583,essv478902,essv493925,essv453928,essv490727,essv466648,essv445133,essv482136,essv495630,essv477782,essv483967,essv439418,essv457823,essv434677,essv444087,essv472879,essv462860,essv494344,essv460522,essv477477,essv436396,essv429444,essv472198,essv480775,essv467542,essv453371,essv456044,essv474142,essv476941,essv436877,essv486974,essv442524,essv454668,essv450687,essv450235,essv448741,essv486781 M 185 0 61 Samples from several populations that are part of the HapMap project. ARHGEF16 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18973,NA18974,NA18975,NA18976,NA18980,NA19005 esv1571906 1 3391645 3391705 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030830 S 2 0 1 ARHGEF16 HuRef esv38724 1 3392809 3395523 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123075 S 6 0 1 Samples from several populations that are part of the HapMap project. ARHGEF16 NA19240 nsv299 1 3393492 3429269 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4519,nssv9111,nssv4678 M 9 3 0 ARHGEF16,MEGF6 NA12156,NA12878,NA19129 esv39821 1 3393700 3393992 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv113108 S 6 0 1 Samples from several populations that are part of the HapMap project. ARHGEF16 NA12878 esv41545 1 3401002 3401113 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110553 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv7n67 1 3401073 3405662 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825142,nsv825031,nsv825364 M 31 3 0 MEGF6 NA18542,NA18951,NA18973 nsv825253 1 3401073 3405924 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434860 S 31 0 1 MEGF6 NA18942 esv42332 1 3401340 3401695 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112764 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv1837465 1 3405296 3479335 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4410063 S 6 0 1 MEGF6,MIR551A NA10851 esv160294 1 3406491 3410790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv494469,essv481466,essv465085,essv450467,essv444193,essv480330,essv437658,essv455036,essv470539,essv439946,essv482431,essv444433,essv457096,essv438201,essv483215,essv435210,essv446617,essv441392,essv484041,essv485086,essv460035,essv449155,essv446099,essv456660,essv432807,essv463246,essv445324,essv436505,essv469158,essv435430,essv478492,essv493682,essv451579,essv472321,essv488362,essv440506,essv495135,essv447836,essv475311,essv432058,essv482674 M 185 0 41 Samples from several populations that are part of the HapMap project. MEGF6 NA06994,NA07037,NA07346,NA07347,NA10847,NA11832,NA11992,NA11994,NA11995,NA12003,NA12045,NA12717,NA12761,NA12763,NA12776,NA12878,NA12892,NA18511,NA18522,NA18532,NA18552,NA18558,NA18564,NA18566,NA18579,NA18582,NA18592,NA18853,NA18953,NA18960,NA18967,NA18972,NA18973,NA18976,NA18981,NA19098,NA19159,NA19172,NA19201,NA19204,NA19238 esv159967 1 3412941 3415440 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492342,essv461856,essv464546,essv484950,essv459373,essv479543,essv476136,essv471384 M 185 0 8 Samples from several populations that are part of the HapMap project. MEGF6 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv38334 1 3418058 3420566 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123079 S 6 0 1 Samples from several populations that are part of the HapMap project. MEGF6 NA19240 esv38636 1 3418186 3418995 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv113095 S 6 0 1 Samples from several populations that are part of the HapMap project. MEGF6 NA12878 esv1595391 1 3418613 3418613 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895480 S 2 1 0 MEGF6 HuRef esv40082 1 3426961 3427178 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112528 S 6 0 1 Samples from several populations that are part of the HapMap project. MEGF6 NA12878 esv162966 1 3434632 3435036 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv523504,essv512670 M 185 0 2 Samples from several populations that are part of the HapMap project. MEGF6 NA11920,NA12043 nsv818333 1 3441264 3456871 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417807 S 112 0 1 MEGF6 NA18853 nsv10494 1 3446134 3451956 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21442,nssv21444 M 31 0 2 Samples from several populations that are part of the HapMap project. MEGF6 NA18942,NA18975 dgv1514e59 1 3446516 3449665 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161132,esv159621 M 185 0 16 MEGF6 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36348 1 3447241 3449090 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114580 S 6 0 1 Samples from several populations that are part of the HapMap project. MEGF6 NA12878 nsv519082 1 3455757 3456592 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696553 S 2026 1 0 MEGF6 esv160080 1 3463616 3466465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv470842,essv475845,essv492150,essv459394,essv480508,essv485677,essv464310,essv461796 M 185 0 8 Samples from several populations that are part of the HapMap project. MEGF6 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv40108 1 3481847 3481919 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv118787 S 6 0 1 Samples from several populations that are part of the HapMap project. MEGF6 NA19239 nsv818444 1 3487126 3510633 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417551 S 112 0 1 MEGF6 NA18971 esv1003247 1 3495308 3495308 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3570647 S 3 1 0 MEGF6 HuRef esv1491138 1 3495329 3495329 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621012 S 2 1 0 MEGF6 HuRef esv159897 1 3497891 3502290 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv465969,essv439805,essv452109,essv487635,essv430446,essv430499,essv440901,essv442256 M 185 0 8 Samples from several populations that are part of the HapMap project. MEGF6 NA12414,NA12489,NA18508,NA18577,NA18861,NA18981,NA19005,NA19152 esv2470115 1 3499392 3502772 CNV Loss McKernan_et_al_2009 19546169 Sequencing Not specified essv5366115 S 1 0 1 MEGF6 NA18507 esv28730 1 3499732 3500631 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13258 S 451 0 3 MEGF6 NA12489,NA18861,NA18916 esv159773 1 3499991 3504990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv490055,essv464875,essv437533,essv487610 M 185 0 4 Samples from several populations that are part of the HapMap project. MEGF6 NA11832,NA12828,NA18953,NA19152 esv1062679 1 3500027 3500099 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165604 S 2 0 1 MEGF6 HuRef esv36145 1 3500791 3504090 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115293 S 6 0 1 Samples from several populations that are part of the HapMap project. MEGF6 NA19240 esv161208 1 3503616 3506465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv470852,essv475907,essv480478,essv461581,essv464820,essv485144,essv492540,essv459036 M 185 0 8 Samples from several populations that are part of the HapMap project. MEGF6 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36401 1 3503891 3506165 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114953,essv114665 M 6 0 2 Samples from several populations that are part of the HapMap project. MEGF6 NA12878,NA12892 esv159892 1 3504241 3505590 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv436239,essv489382,essv477912,essv472978,essv476927,essv432029,essv487246,essv467412,essv429515,essv454133,essv472108,essv469012,essv457145,essv441503,essv462426,essv475044,essv491802,essv449032,essv477343,essv494313,essv450908,essv433168,essv478949,essv457759,essv446928,essv485773,essv438892,essv484020,essv444960,essv443818,essv482246,essv456477,essv443320,essv434805,essv495420,essv466574,essv483140,essv440204,essv494210,essv438500,essv431282,essv437239,essv463704,essv442196,essv465934,essv431648,essv470074,essv450230,essv474037,essv478518,essv460350,essv493289,essv480776,essv456176,essv448143,essv433810,essv489050,essv468979,essv436434,essv462985,essv486595,essv453255,essv490615 M 185 0 63 Samples from several populations that are part of the HapMap project. MEGF6 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18976,NA18980,NA18981,NA19005 dgv7300e59 1 3504384 3504683 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv41280,esv42718 M 6 0 2 MEGF6 NA12878,NA19240 esv1072885 1 3504446 3504446 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183764 S 2 1 0 MEGF6 HuRef nsv160325 1 3504447 3504447 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178903 M 24 MEGF6 esv162856 1 3504579 3505282 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv535444,essv526404 M 185 0 2 Samples from several populations that are part of the HapMap project. MEGF6 NA18555,NA18605 esv42058 1 3504588 3504887 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111572 S 6 0 1 Samples from several populations that are part of the HapMap project. MEGF6 NA12878 esv41547 1 3504804 3505003 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112198 S 6 0 1 Samples from several populations that are part of the HapMap project. MEGF6 NA12878 nsv160986 1 3508189 3508254 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179564 M 24 MEGF6 nsv160621 1 3508211 3508276 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179199 M 24 MEGF6 esv1645766 1 3508420 3508486 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161797 S 2 0 1 MEGF6 HuRef esv159995 1 3519791 3524190 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv439582,essv444551,essv456884,essv481289,essv450546,essv455473,essv435321,essv487118,essv442860,essv469019 M 185 0 10 Samples from several populations that are part of the HapMap project. MEGF6 NA11992,NA12003,NA12154,NA12155,NA12763,NA18526,NA18592,NA18603,NA19098,NA19171 dgv7301e59 1 3520091 3523390 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36195,esv35176 M 6 0 2 MEGF6 NA19239,NA19240 dgv1515e59 1 3526716 3529665 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160499,esv160980 M 185 0 16 MEGF6 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160869 1 3527691 3528840 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv493482,essv439932,essv437408,essv464081,essv433802,essv472529,essv494712,essv429462,essv455665,essv483359,essv466333,essv457413,essv491879,essv449013,essv431585,essv489871,essv454342,essv456786,essv452948,essv462856,essv446636,essv487034,essv458071,essv482080,essv443927,essv485266,essv444577,essv438912,essv434880,essv490336,essv484255,essv477773,essv476614,essv436370,essv463408,essv432028,essv478577,essv465774,essv447379,essv470248,essv441915,essv450869,essv442478,essv438443,essv477459,essv448201,essv431073,essv449907,essv480774,essv488511,essv435971,essv454457,essv474744,essv474140,essv472432,essv468602,essv433346 M 185 0 57 Samples from several populations that are part of the HapMap project. MEGF6 NA06994,NA11881,NA11993,NA11995,NA12004,NA12043,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18571,NA18572,NA18573,NA18576,NA18577,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv35566 1 3540491 3543240 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114220 S 6 0 1 Samples from several populations that are part of the HapMap project. TPRG1L NA12878 esv159827 1 3540616 3543465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv479504,essv464926,essv459220,essv485824,essv461657,essv471171,essv476239,essv492116 M 185 0 8 Samples from several populations that are part of the HapMap project. TPRG1L NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1842748 1 3545612 3653426 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human1Mv1 DNA Analysis BeadChip essv4382336 S 6 1 0 TP73,TP73-AS1,TPRG1L,WRAP73 NA18980 nsv410 1 3551651 3583644 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10069 S 9 1 0 TP73,WRAP73 NA18956 esv1821673 1 3552509 3566706 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4410308 S 6 0 1 WRAP73 NA18576 esv2247294 1 3556844 3557317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665883 S 1 0 1 WRAP73 NA18507 esv161444 1 3559116 3561965 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461327,essv492532,essv484812,essv464689,essv480479,essv458286,essv470963,essv475589 M 185 0 8 Samples from several populations that are part of the HapMap project. WRAP73 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv43774 1 3559341 3561840 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37165 S 6 0 1 Samples from several populations that are part of the HapMap project. WRAP73 NA19238 esv2489412 1 3559736 3561398 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5381740 S 1 0 1 WRAP73 NA18507 dgv1516e59 1 3559748 3561540 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv159849,esv162526 M 185 0 51 WRAP73 NA06994,NA11881,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18545,NA18547,NA18555,NA18558,NA18562,NA18563,NA18571,NA18572,NA18576,NA18577,NA18592,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18975,NA18976 esv29463 1 3560245 3560955 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11696 S 451 0 1 WRAP73 NA15510 esv1007908 1 3560447 3560956 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3571323 S 3 0 1 WRAP73 HuRef esv160516 1 3567516 3570065 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484744,essv471526,essv479893,essv465087,essv461575,essv458454,essv475566,essv491210 M 185 0 8 Samples from several populations that are part of the HapMap project. TP73 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36935 1 3568041 3570490 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114490 S 6 0 1 Samples from several populations that are part of the HapMap project. TP73 NA12878 nsv830314 1 3577340 3720839 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441951,nssv1441907,nssv1441885,nssv1441929,nssv1441963,nssv1441996,nssv1441918,nssv1441985,nssv1441940,nssv1441896,nssv1441874,nssv1441974 M 95 1 11 CCDC27,LOC388588,LRRC47,TP73,TP73-AS1 dgv13e1 1 3585041 3655536 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1254,essv20812 M 271 0 0 TP73,TP73-AS1 NA10855 esv165423 1 3591554 3591865 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164010,esv162623,esv163984 M 185 0 29 Samples from several populations that are part of the HapMap project. TP73 NA07051,NA07347,NA07357,NA11830,NA11831,NA11920,NA11992,NA12716,NA12750,NA12761,NA12763,NA12891,NA18486,NA18555,NA18576 nsv460061 1 3597017 3671791 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536686 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC27,TP73,TP73-AS1 HGDP00787 esv40123 1 3605740 3606202 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111237 S 6 0 1 Samples from several populations that are part of the HapMap project. TP73 NA12878 esv160178 1 3607141 3609940 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492749,essv471520,essv459051,essv485004,essv461222,essv480395,essv475872,essv465105 M 185 0 8 Samples from several populations that are part of the HapMap project. TP73 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv7302e59 1 3609191 3612590 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39943,esv35410,esv36421 M 6 0 3 TP73 NA19238,NA19240 esv1394802 1 3610346 3610346 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024850 S 2 1 0 TP73 HuRef esv1032022 1 3610682 3610682 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640841 S 2 1 0 TP73 HuRef esv1115862 1 3610827 3610827 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358577 S 2 1 0 TP73 HuRef esv1634361 1 3610899 3611319 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887450 S 2 0 1 TP73 HuRef esv160490 1 3638141 3640940 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476133,essv464365,essv461224,essv458339,essv485238,essv471409,essv480026,essv492052 M 185 0 8 Samples from several populations that are part of the HapMap project. TP73 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36426 1 3641191 3644090 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115163,essv114310,essv115954 M 6 0 3 Samples from several populations that are part of the HapMap project. TP73 NA12878,NA12892,NA19239 esv160918 1 3641316 3644065 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv465311,essv484463,essv479909,essv471444,essv458875,essv461544,essv476000,essv491951 M 185 0 8 Samples from several populations that are part of the HapMap project. TP73 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161249 1 3641691 3643540 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv483745,essv472014,essv473004,essv475029,essv466159,essv436224,essv450099,essv449128,essv432272,essv484354,essv454358,essv494015,essv468926,essv494294,essv474221,essv453224,essv454722,essv434347,essv478051,essv429325,essv445178,essv490345,essv457666,essv481983,essv466218,essv443366,essv446902,essv456340,essv478493,essv455798,essv440094,essv491334,essv460769,essv462481,essv441557,essv469262,essv477403,essv436558,essv431538,essv480818,essv483649,essv436805,essv486927,essv450961,essv486611,essv457066,essv476916,essv479302,essv443982,essv469945,essv439122,essv463389,essv438451,essv442093,essv447532 M 185 0 55 Samples from several populations that are part of the HapMap project. TP73 NA06994,NA11881,NA11993,NA11995,NA12004,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18564,NA18572,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA19005 dgv1517e59 1 3642124 3643051 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv165579,esv163398 M 185 0 14 TP73 NA07051,NA10851,NA11894,NA11920,NA12489,NA18505,NA18511,NA18571,NA18576,NA18861,NA18943,NA18956,NA18959 esv994567 1 3652123 3655370 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565096 S 3 0 1 TP73,TP73-AS1 HuRef nsv830425 1 3657453 3758389 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442007 S 95 1 0 CCDC27,CEP104,LOC388588,LRRC47,TP73-AS1 esv160841 1 3687616 3690965 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv459325,essv464243,essv461659,essv479633,essv484831,essv492375,essv475333,essv471615 M 185 0 8 Samples from several populations that are part of the HapMap project. CCDC27,LOC388588 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35856 1 3688041 3690440 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114513 S 6 0 1 Samples from several populations that are part of the HapMap project. CCDC27,LOC388588 NA12878 esv159882 1 3691541 3694040 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491335,essv475452,essv458376,essv485108,essv479582,essv471232,essv464910,essv462130 M 185 0 8 Samples from several populations that are part of the HapMap project. LOC388588 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160666 1 3711516 3714065 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492123,essv485834,essv476502,essv471804,essv458560,essv464298,essv461968,essv480566 M 185 0 8 Samples from several populations that are part of the HapMap project. LRRC47 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1678500 1 3714289 3714289 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118454 S 2 1 0 "" HuRef dgv7303e59 1 3716909 3717266 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43215,esv38390 M 6 0 9 "" NA19238,NA19239,NA19240 esv1763700 1 3716941 3717091 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015442 S 2 0 1 "" HuRef dgv1518e59 1 3716942 3717215 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv166493,esv162491 M 185 0 102 "" NA06986,NA06994,NA07037,NA07347,NA07357,NA11830,NA11918,NA11919,NA11931,NA12004,NA12006,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12287,NA12716,NA12750,NA12751,NA12813,NA12892,NA18489,NA18498,NA18499,NA18501,NA18508,NA18510,NA18511,NA18516,NA18517,NA18520,NA18522,NA18523,NA18532,NA18552,NA18856,NA18861,NA18870,NA18871,NA18909,NA18912,NA18916,NA18945,NA18953,NA18956,NA18972,NA18980,NA19098,NA19099,NA19102,NA19108,NA19114,NA19116,NA19137,NA19138,NA19144,NA19147,NA19152,NA19159,NA19160,NA19171,NA19172,NA19190,NA19201,NA19209,NA19225,NA19257 nsv509590 1 3743021 3819056 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623769 S 4 1 0 C1orf174,CEP104,DFFB,LOC100133612 NA18994 esv1948239 1 3748871 3749215 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952306 S 1 0 1 CEP104 NA18507 esv43218 1 3748937 3749008 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38970 S 6 0 2 Samples from several populations that are part of the HapMap project. CEP104 NA19239,NA19240 esv1074506 1 3748997 3748997 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942170 S 2 1 0 CEP104 HuRef nsv159844 1 3759905 3761262 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178422 M 24 CEP104 esv1467252 1 3785236 3785236 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229403 S 2 1 0 DFFB HuRef esv1008825 1 3790827 3790983 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3580646 S 3 0 1 DFFB HuRef esv1273516 1 3790827 3790984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131794 S 2 0 1 DFFB HuRef esv992605 1 3790827 3791061 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3585949 S 3 0 1 DFFB HuRef dgv7304e59 1 3807191 3810290 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37094,esv36469 M 6 0 4 C1orf174 NA12878,NA12891,NA12892 esv26417 1 3808437 3809202 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16927 S 451 2 0 C1orf174 NA19099,NA19225 esv1352346 1 3808984 3809076 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067715 S 2 0 1 C1orf174 HuRef esv159986 1 3835716 3838265 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461826,essv471217,essv459193,essv479733,essv465160,essv484371,essv491713,essv476479 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36672 1 3835841 3838040 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116038,essv115408,essv114299,essv113687 M 6 0 4 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 esv160945 1 3841391 3845268 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv472479,essv482994,essv487772,essv449216,essv437125,essv451688,essv447863,essv465753,essv444557,essv438305,essv462831,essv473474,essv442784,essv462917,essv445985,essv475210,essv470480,essv488220,essv482748,essv494522,essv452672,essv492991,essv490905,essv437938,essv491115,essv429957,essv481808,essv430335,essv466983,essv456322,essv435188,essv479914,essv451451,essv473146,essv459605,essv450368,essv444039,essv455082,essv493730,essv460212,essv482435,essv429453,essv438126,essv487232,essv445809,essv487680,essv451302,essv447515,essv474488,essv445551,essv437642,essv491255,essv432208,essv449553,essv452572,essv468970,essv459865 M 185 0 57 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA07347,NA10847,NA11920,NA11931,NA11992,NA11993,NA11994,NA12003,NA12249,NA12414,NA12716,NA12750,NA12761,NA12763,NA12776,NA12878,NA18501,NA18510,NA18517,NA18519,NA18526,NA18550,NA18552,NA18555,NA18564,NA18566,NA18576,NA18577,NA18579,NA18593,NA18603,NA18608,NA18638,NA18853,NA18870,NA18871,NA18912,NA18953,NA18960,NA18961,NA18965,NA18967,NA18971,NA18975,NA19093,NA19098,NA19119,NA19138,NA19152,NA19159,NA19172,NA19200,NA19201,NA19240 dgv1519e59 1 3843755 3844214 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv162957,esv163850 M 185 0 11 "" NA11881,NA11995,NA12828,NA12878,NA18558,NA18577,NA18609,NA18858,NA19114,NA19137,NA19240 esv38449 1 3843780 3844274 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv117256,essv116759,essv118493 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 dgv7305e59 1 3996489 3996795 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv40945,esv40676 M 6 0 2 "" NA12878 nsv460172 1 4014091 4080780 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536774 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00586 esv159790 1 4032891 4037190 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv437601,essv455525,essv469366,essv440396,essv461596,essv464737,essv483755,essv450329,essv480178,essv446104,essv468417,essv438983,essv473884,essv487366,essv483334,essv470574,essv440095,essv482779 M 185 0 18 Samples from several populations that are part of the HapMap project. "" NA06994,NA07346,NA11830,NA11832,NA11919,NA11992,NA11994,NA12155,NA12813,NA18526,NA18579,NA18582,NA18592,NA18605,NA18853,NA18953,NA18972,NA18981 esv39969 1 4033342 4034091 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv116970,essv118604 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv166286 1 4033370 4033856 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163386 S 185 0 13 Samples from several populations that are part of the HapMap project. "" NA11993,NA12891,NA18508,NA18593,NA18907,NA18916,NA18943,NA18948,NA18949,NA19093,NA19108,NA19129,NA19190 esv42726 1 4033552 4033770 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123304 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv164952 1 4033635 4033740 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv551227,essv548004 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA19108,NA19238 nsv521 1 4043864 4048033 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1327 S 9 1 0 "" NA19240 esv26736 1 4044756 4045264 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11152 S 451 0 1 "" NA18916 esv41831 1 4047217 4047464 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111626 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv38156 1 4059077 4060011 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123052 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv1003004 1 4059827 4059944 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3578431 S 3 0 1 "" HuRef esv1647727 1 4059835 4059953 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880229 S 2 0 1 "" HuRef nsv159163 1 4059836 4059953 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177741 M 24 "" esv43322 1 4059907 4059965 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39219 S 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv160467 1 4075916 4078465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475769,essv471850,essv491762,essv464683,essv485416,essv459140,essv462000,essv479743 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37452 1 4076291 4078140 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114400 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160640 1 4076691 4077690 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv441443,essv465785,essv435818,essv429613,essv448719,essv476742,essv495576,essv494435,essv491768,essv474767,essv469591,essv471973,essv493972,essv486800,essv450158,essv472539,essv444221,essv474313,essv454130,essv450786,essv493095,essv488886,essv455746,essv464163,essv484040,essv478392,essv466266,essv439289,essv458148,essv445073,essv446934,essv490587,essv434470,essv443476,essv481795,essv478059,essv483489,essv468692,essv463137,essv432948,essv431921,essv436319,essv432487,essv447558,essv439757,essv477102,essv437315,essv442244,essv452846,essv448564,essv438624,essv489895,essv470382,essv457048,essv430963,essv486852,essv480867,essv467593,essv462400,essv434145,essv460741,essv456653,essv485485 M 185 0 63 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv41503 1 4081382 4081781 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111799 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv460283 1 4117554 4299727 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536884 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00817 nsv520675 1 4120311 4123099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697551 S 2026 0 1 "" esv160193 1 4122591 4129590 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv435118,essv491369,essv457502,essv432688,essv474315,essv430576,essv482606,essv475121,essv437508,essv464648,essv470353,essv458468,essv457539,essv494814,essv454972,essv451544,essv450414,essv473712,essv459933,essv481403,essv479368,essv481534,essv439357,essv468373,essv453594,essv446009,essv434719,essv455577,essv463659,essv447781,essv473182,essv462091,essv440073,essv469033,essv483163,essv432063,essv486647,essv472994,essv472034,essv489309,essv442466,essv444375,essv475065,essv461021,essv442705 M 185 0 45 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA07347,NA11830,NA11832,NA11894,NA11919,NA11920,NA11992,NA11994,NA12003,NA12144,NA12154,NA12155,NA12749,NA12750,NA12776,NA12813,NA12878,NA12891,NA12892,NA18502,NA18504,NA18519,NA18520,NA18537,NA18542,NA18552,NA18564,NA18592,NA18603,NA18861,NA18947,NA18953,NA18961,NA18965,NA18972,NA18973,NA18976,NA18981,NA19005,NA19098,NA19108,NA19172,NA19201 esv37362 1 4123541 4128740 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113674,essv115210,essv114004 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv21720 1 4123843 4127968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12064 S 451 0 3 "" NA12749,NA12878,NA19108 esv163612 1 4124144 4124864 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv497422,essv523461,essv529652,essv537553 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA07000,NA11831,NA11920,NA12144 dgv7306e59 1 4124341 4128790 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35505,esv36626,esv36096 M 6 0 5 "" NA12878,NA12891,NA12892,NA19239,NA19240 dgv7307e59 1 4124453 4124949 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37769,esv42954 M 6 0 4 "" NA12878,NA12891,NA12892,NA19239 esv5203 1 4124544 4124998 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27644 S 1 0 1 Single Asian sample YH "" YH esv38837 1 4124957 4125864 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121715 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12892 dgv7308e59 1 4125075 4127031 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv38069,esv43258 M 6 0 4 "" NA12878,NA12891,NA12892,NA19240 esv41721 1 4125129 4125340 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111276 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv164172 1 4125200 4125965 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv542740,essv551205,essv549950 M 185 0 3 Samples from several populations that are part of the HapMap project. "" NA18517,NA18907,NA18916 nsv511674 1 4125242 4125939 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626312 S 1 0 1 "" 1 esv162263 1 4125252 4126387 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv516891,essv514290,essv522685,essv499234,essv529235,essv513841,essv523198,essv501583 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18511,NA18523,NA18856,NA18858,NA19108,NA19114 esv40367 1 4125257 4127702 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112356 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv1280652 1 4125335 4125432 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810874 S 2 0 1 "" HuRef esv38369 1 4125408 4126236 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122527 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 dgv7309e59 1 4125718 4126773 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv38544,esv38842 M 6 0 2 "" NA12892,NA19238 esv163714 1 4125835 4126748 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv526223,essv534253,essv540650,essv530659,essv532437 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA18537,NA18550,NA18555,NA18558,NA18592 esv38336 1 4126056 4126423 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv116729,essv118353,essv117043 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv38787 1 4126117 4126844 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122554 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv5764 1 4126190 4126790 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28205 S 1 0 1 "" SJK esv39680 1 4126446 4127336 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121511 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12892 esv42529 1 4127299 4127702 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112886 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv34e188 1 4136864 4138813 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1819219,esv1851212,esv1825871,esv1803679,esv1831570,esv1824030,esv1797549,esv1797405,esv1851139 M 6 0 9 "" NA12239,NA15510,NA18576,NA18980 esv23365 1 4136993 4138968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13534,esv16191 M 451 0 13 "" NA12004,NA12006,NA12239,NA12287,NA12489,NA12828,NA18505,NA18858,NA18907,NA18909,NA18916,NA19099,NA19147 esv1000769 1 4137301 4137706 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3578155 S 3 0 1 "" HuRef esv1100125 1 4137381 4137787 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668289 S 2 0 1 "" HuRef nsv821406 1 4137818 4138918 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420735 S 1 1 0 "" NA10851 esv1767486 1 4138561 4138561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227901 S 2 1 0 "" HuRef nsv509701 1 4142890 4219900 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619763 S 4 1 0 "" NA10860 esv40986 1 4148923 4149083 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112420 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv163186 1 4149353 4149685 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv507060,essv500634,essv528463 M 185 0 3 Samples from several populations that are part of the HapMap project. "" NA11919,NA12003,NA12155 esv37582 1 4154441 4156440 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113492 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 esv2637444 1 4154509 4156134 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5194644 S 1 0 1 "" NA18507 esv2259067 1 4154970 4155665 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563770 S 1 0 1 "" NA18507 esv3887 1 4155049 4155584 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26328 S 1 0 1 Single Asian sample YH "" YH esv166255 1 4155147 4155460 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164200,esv163059,esv162995,esv161908,esv162608 M 185 0 331 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA10851,NA11831,NA11881,NA11894,NA11919,NA11920,NA11931,NA11994,NA11995,NA12003,NA12005,NA12154,NA12414,NA12489,NA12763,NA12813,NA12891,NA12892,NA18486,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18517,NA18520,NA18523,NA18545,NA18547,NA18558,NA18563,NA18570,NA18571,NA18572,NA18577,NA18603,NA18608,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18912,NA18916,NA18940,NA18942,NA18943,NA18948,NA18949,NA18952,NA18953,NA18956,NA18960,NA18965,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA19005,NA19093,NA19098,NA19099,NA19102,NA19108,NA19119,NA19129,NA19131,NA19137,NA19138,NA19144,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19209,NA19210,NA19225,NA19238,NA19239,NA19257 esv43788 1 4155147 4155460 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39251,esv39465,esv41133,esv40164,esv39171,esv39037 M 6 0 23 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19239,NA19240 esv7346 1 4155163 4155463 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29787 S 1 0 1 "" SJK esv160763 1 4158916 4161465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471418,essv458750,essv484541,essv465336,essv479900,essv462224,essv491411,essv475910 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36181 1 4159191 4161565 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116381,essv114647 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA19239 esv160639 1 4159491 4161190 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv448502,essv449059,essv478652,essv462311,essv473908,essv455656,essv493576,essv447240,essv494632,essv443417,essv483099,essv487328,essv493872,essv431787,essv472250,essv444201,essv441865,essv486703,essv436464,essv446751,essv479306,essv477296,essv431361,essv476576,essv432922,essv433911,essv466152,essv463765,essv480797,essv457091,essv472647,essv457643,essv495201,essv466555,essv482233,essv478052,essv456817,essv439425,essv434543,essv469083,essv463492,essv450701,essv442344,essv454780,essv432432,essv489602,essv468515,essv492651,essv489012,essv474756,essv440142,essv435907,essv453216,essv453907,essv429200,essv490499,essv467204,essv470003,essv438351,essv444698,essv484132,essv460447,essv436857 M 185 0 63 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv40459 1 4177794 4177986 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111204 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv163548 1 4177812 4178052 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv522094,essv528474,essv521369,essv532852 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA06986,NA10851,NA11830,NA11919 esv39867 1 4196176 4196870 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122649 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv162763 1 4196195 4196881 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv531080,essv521194,essv519781,essv530627,essv539166,essv499627,essv514497,essv539489,essv498213,essv540202,essv525490,essv534684,essv529375,essv496288,essv517992,essv505744,essv499356,essv538612,essv507922,essv535772,essv518636,essv497450,essv530088,essv514765,essv513821,essv515136,essv528073,essv498628,essv505240,essv508740,essv506085,essv521700 M 185 0 32 Samples from several populations that are part of the HapMap project. "" NA07000,NA11881,NA11894,NA11992,NA12006,NA12144,NA12249,NA12749,NA12891,NA18498,NA18502,NA18511,NA18523,NA18547,NA18550,NA18563,NA18572,NA18603,NA18609,NA18638,NA18861,NA18909,NA18916,NA18943,NA18956,NA18959,NA19093,NA19099,NA19129,NA19138,NA19147,NA19190 esv43426 1 4196217 4196665 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38916 S 6 0 3 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv38409 1 4196464 4196872 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122178 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv1112137 1 4196797 4196797 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248978 S 2 1 0 "" HuRef esv163812 1 4199095 4199435 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv535806,essv528594 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA11919,NA11992 esv7714 1 4204501 4204569 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30155 S 1 1 0 "" SJK dgv1520e59 1 4204651 4204738 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv164250,esv165126 M 185 0 22 "" NA07037,NA11831,NA12155,NA12249,NA12287,NA12717,NA18489,NA18499,NA18501,NA18552,NA18561,NA18570,NA18572,NA18576,NA18579,NA18609,NA18638,NA18964,NA19093,NA19102,NA19257 esv2619231 1 4204675 4204724 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5231288 S 1 0 1 "" NA18507 esv42525 1 4204678 4204733 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv118669,essv119080,essv118922,essv119323 M 6 0 4 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19239,NA19240 nsv527177 1 4216862 4227094 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703573 S 2026 0 1 "" esv41286 1 4219675 4220096 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110742 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv41851 1 4226248 4226712 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112723 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv163085 1 4235137 4235441 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv521903,essv512617 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA06986,NA12043 nsv830536 1 4240010 4385181 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442018 S 95 1 0 "" esv43402 1 4247725 4442685 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv41908 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv162048 1 4271061 4271626 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv500463 S 185 0 1 Samples from several populations that are part of the HapMap project. "" NA11993 esv166553 1 4271131 4271525 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161798 S 185 0 1 Samples from several populations that are part of the HapMap project. "" NA11993 esv42993 1 4276114 4276186 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123148 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv830647 1 4277307 4447580 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442029 S 95 1 0 "" esv165429 1 4284607 4285943 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164663,esv162475,esv162434 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv43501 1 4284607 4285943 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv36721,esv39864,esv42421,esv39762,esv38549,esv35246,esv38503 M 6 0 13 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv25427 1 4284635 4286005 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14207 S 451 0 1 "" NA19240 esv39622 1 4288403 4288576 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv120586,essv120028,essv119454 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv41518 1 4288417 4288483 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112931 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv272116 1 4288427 4288772 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498493,essv2507417,essv2512478,essv2499471,essv2501977,essv2512043,essv2511379,essv2493758,essv2504302,essv2506563,essv2510776,essv2507275,essv2509525,essv2497030,essv2498257 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA12044,NA18489,NA18501,NA18505,NA18517,NA18858,NA18870,NA18912,NA19108,NA19129,NA19190,NA19238,NA19239,NA19240 esv273348 1 4288428 4288773 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584599,essv2583870,essv2584271 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv162386 1 4336055 4336425 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528399,essv521894 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347 esv41727 1 4351259 4351762 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111712 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv159648 1 4363044 4363044 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178226 M 24 "" dgv35e188 1 4376816 4404414 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1833791,esv1848004,esv1798191,esv1813495 M 6 0 4 "" NA10851,NA12239,NA18517,NA18980 esv1827533 1 4381253 4393442 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4402113 S 6 0 1 "" NA15510 dgv36e188 1 4382789 4404077 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1841928,esv1849695 M 6 0 2 "" NA10851,NA18980 dgv37e188 1 4388885 4396277 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1847935,esv1813108 M 6 0 2 "" NA18517,NA18980 dgv38e188 1 4389262 4393525 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1845955,esv1810248 M 6 0 2 "" NA18517,NA18980 esv161536 1 4389891 4394090 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv432539,essv487691,essv481266,essv447975,essv446354,essv437447,essv482998,essv482803,essv442479,essv444589,essv440013,essv450317,essv439036,essv475139,essv443317,essv466899,essv484819,essv443615,essv468354,essv458935,essv489956,essv495220,essv465367,essv466511,essv477315,essv457065,essv470390,essv438030,essv436476,essv439560,essv440553,essv483171,essv444453,essv487098 M 185 0 34 Samples from several populations that are part of the HapMap project. "" NA07347,NA10851,NA11832,NA11919,NA11992,NA11995,NA12006,NA12043,NA12044,NA12154,NA12749,NA12751,NA12776,NA12813,NA12828,NA18489,NA18523,NA18526,NA18532,NA18537,NA18564,NA18579,NA18582,NA18953,NA18972,NA18973,NA18974,NA18981,NA19005,NA19098,NA19152,NA19159,NA19171,NA19200 esv28339 1 4391581 4404275 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14362,esv19856,esv11599,esv17217,esv17261 M 451 9 24 "" NA06985,NA11894,NA11931,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18505,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv511131 1 4392511 4395812 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626587 S 1 0 1 "" 1 dgv39e188 1 4392511 4404077 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1840192,esv1834436 M 6 0 2 "" NA10851 esv161212 1 4394591 4398790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv445965,essv447697,essv429825,essv447963,essv439311,essv444464,essv440541,essv451565,essv468937,essv452690,essv482470,essv437465 M 185 0 12 Samples from several populations that are part of the HapMap project. "" NA07347,NA11994,NA12249,NA12813,NA18582,NA18953,NA18960,NA18971,NA18975,NA19098,NA19119,NA19172 esv2505018 1 4396293 4397001 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5228093 S 1 1 0 "" NA18507 esv1619694 1 4396588 4396588 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918928 S 2 1 0 "" HuRef esv160937 1 4402516 4405065 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475701,essv464300,essv479958,essv485215,essv470801,essv459419,essv461417,essv492672 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv275066 1 4421060 4424115 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585519 S 1250 0 1 "" esv42168 1 4425833 4426189 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110763 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv159998 1 4426991 4431690 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv444532,essv447666,essv468236,essv456892,essv483597,essv478756 M 185 0 6 Samples from several populations that are part of the HapMap project. "" NA11919,NA12763,NA18558,NA18972,NA18975,NA19098 dgv7310e59 1 4427891 4431090 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35970,esv37088 M 6 0 2 "" NA19239,NA19240 nsv830759 1 4447581 4669361 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442040,nssv1442051 M 95 0 2 LOC284661 esv2213507 1 4480157 4480574 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764956 S 1 0 1 LOC284661 NA18507 esv1543124 1 4480354 4480416 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354508 S 2 0 1 LOC284661 HuRef esv159847 1 4484991 4490090 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv494759,essv463130,essv494963,essv455421,essv490102,essv450420,essv449153,essv479141 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA10847,NA11992,NA12155,NA12828,NA18522,NA18547,NA18552,NA18967 esv159914 1 4529091 4533290 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv469670,essv487015,essv488422,essv470501,essv491542,essv442757,essv467012,essv456300,essv450350,essv483586,essv469010,essv472128,essv489291,essv440370 M 185 0 14 Samples from several populations that are part of the HapMap project. "" NA11992,NA12716,NA12763,NA18520,NA18526,NA18582,NA18592,NA18603,NA18853,NA18961,NA18972,NA18976,NA19204,NA19239 esv39625 1 4530986 4531341 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv116972,essv118473 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 dgv7311e59 1 4531002 4531274 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv40507,esv43554 M 6 0 5 "" NA19239,NA19240 esv274284 1 4532014 4532239 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579261,essv2579740 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv39133 1 4532026 4532109 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv119570 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv159887 1 4554391 4558990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv450380,essv487479,essv492463,essv470484 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA11992,NA18526,NA18853,NA18961 nsv460394 1 4573989 4592116 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536980 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01098 esv165946 1 4575010 4575415 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163333 S 185 0 2 Samples from several populations that are part of the HapMap project. "" NA11995,NA12717 esv163517 1 4580785 4581096 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv513562,essv503628,essv495875,essv504856,essv530540 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA18520,NA18523,NA18907,NA19116,NA19257 esv1006796 1 4596030 4602089 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586737 S 3 0 1 "" HuRef esv21437 1 4597917 4603368 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13444 S 451 0 1 "" NA18861 esv2469165 1 4603290 4604366 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5375102 S 1 1 0 "" NA18507 esv995887 1 4603762 4603762 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3569284 S 3 1 0 "" HuRef esv1262838 1 4603782 4603782 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924372 S 2 1 0 "" HuRef esv41407 1 4633775 4634020 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111158 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv40068 1 4635189 4635522 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111676 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv163546 1 4671788 4672132 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv537579,essv522131 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA06986,NA11831 esv2398993 1 4676313 4676822 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895725 S 1 0 1 "" NA18507 esv39450 1 4676385 4676757 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv116711,essv118530 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv165841 1 4676489 4676568 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162335,esv162592,esv161838 M 185 0 57 Samples from several populations that are part of the HapMap project. "" NA07051,NA18486,NA18498,NA18507,NA18517,NA18522,NA18523,NA18526,NA18545,NA18547,NA18552,NA18561,NA18563,NA18566,NA18571,NA18572,NA18573,NA18605,NA18638,NA18858,NA18870,NA18912,NA18944,NA18949,NA18951,NA18952,NA18953,NA18961,NA18968,NA18974,NA18980,NA19102,NA19108,NA19116,NA19147,NA19207,NA19210,NA19239 esv43523 1 4676498 4676644 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39139,esv38987 M 6 0 5 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239,NA19240 esv159794 1 4677316 4679865 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464557,essv479432,essv475476,essv462297,essv485083,essv458507,essv471674,essv492848 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37270 1 4677691 4680290 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114911 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv42487 1 4678283 4678551 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112390 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv40378 1 4683759 4684052 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112598 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160466 1 4691616 4694465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464927,essv475481,essv491642,essv485446,essv471424,essv479922,essv461558,essv459430 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35544 1 4692141 4694040 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113666,essv114306 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv160479 1 4705291 4709790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv468660,essv492703,essv447616,essv472101,essv442785,essv437744,essv429996,essv483701,essv456287,essv446535,essv481314,essv439450,essv449209,essv465032,essv450463,essv483485,essv482888,essv487647,essv463174,essv440080,essv444540,essv457303 M 185 0 22 Samples from several populations that are part of the HapMap project. "" NA06994,NA10847,NA11832,NA11992,NA12154,NA12249,NA12717,NA12763,NA12813,NA18603,NA18871,NA18961,NA18967,NA18971,NA18972,NA18973,NA18975,NA18976,NA18981,NA19098,NA19152,NA19200 esv36187 1 4705891 4710190 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115337 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv43025 1 4707582 4707769 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123371 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160892 1 4712791 4717290 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv431299,essv492286,essv474423,essv493746,essv481577,essv473651,essv449480,essv460926,essv441716,essv446386,essv490046,essv443849,essv440323,essv468775,essv453805,essv489234,essv477116,essv452777,essv441406,essv493168,essv455169,essv482462,essv488315,essv467825,essv455433,essv435558,essv463494,essv485977,essv429493,essv447281,essv436206,essv494999,essv488185,essv447108,essv459775,essv483117,essv430072,essv440700,essv437850,essv430683,essv466898,essv459464,essv449137,essv490350,essv440996,essv467030,essv439169,essv435216,essv446024,essv440907,essv451900,essv481820,essv464788,essv483916,essv447990,essv444599,essv473133,essv450499,essv430416,essv491156,essv480381,essv481214,essv487914,essv439692,essv444386,essv476870,essv429783,essv470457,essv487683,essv490938,essv453025,essv438220,essv469748,essv474224,essv432032,essv437681,essv454978,essv445299,essv433918,essv470605,essv445906,essv478738,essv479216,essv472408,essv451574,essv461636,essv457989,essv450592,essv431789,essv482961,essv468146,essv442191,essv451185,essv482733,essv460195 M 185 0 95 Samples from several populations that are part of the HapMap project. AJAP1 NA06986,NA06994,NA07000,NA07346,NA07347,NA10847,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA11993,NA11994,NA12003,NA12004,NA12045,NA12154,NA12155,NA12156,NA12414,NA12716,NA12717,NA12751,NA12761,NA12813,NA12828,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18508,NA18510,NA18519,NA18520,NA18522,NA18537,NA18547,NA18550,NA18558,NA18561,NA18562,NA18564,NA18566,NA18572,NA18573,NA18579,NA18605,NA18853,NA18856,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18953,NA18960,NA18961,NA18964,NA18967,NA18968,NA18971,NA18972,NA18974,NA18975,NA18976,NA18981,NA19005,NA19093,NA19098,NA19102,NA19119,NA19131,NA19137,NA19138,NA19152,NA19159,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19209,NA19238,NA19239,NA19240 esv37354 1 4713016 4717215 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116317,essv114086,essv115570 M 6 0 3 Samples from several populations that are part of the HapMap project. AJAP1 NA12878,NA19239,NA19240 nsv825475 1 4713119 4717435 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433404 S 31 1 0 AJAP1 NA18526 esv159701 1 4714516 4717465 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475959,essv459243,essv485830,essv464509,essv471677,essv461517,essv480043,essv491854 M 185 0 8 Samples from several populations that are part of the HapMap project. AJAP1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1009421 1 4734774 4738126 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565733 S 3 0 1 AJAP1 HuRef nsv460505 1 4737531 4754057 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537066 S 1557 0 1 AJAP1 1780862093_A nsv520031 1 4747737 4751030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701964,nssv660165,nssv683157 M 2026 0 3 AJAP1 nsv521535 1 4747737 4772717 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694458 S 2026 0 1 AJAP1 nsv460617 1 4751030 4787119 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537158 S 1557 0 1 AJAP1 NINDS_66 esv161630 1 4754791 4759190 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv432617,essv487181,essv447801,essv482473,essv437688,essv449722 M 185 0 6 Samples from several populations that are part of the HapMap project. AJAP1 NA07347,NA18526,NA18564,NA18858,NA18953,NA19172 esv161325 1 4768291 4772590 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv482171,essv474017,essv488389,essv456737,essv487827,essv448020,essv475129,essv450373,essv490089,essv440545,essv451673,essv481018,essv492220,essv441182,essv473325 M 185 0 15 Samples from several populations that are part of the HapMap project. AJAP1 NA07347,NA11831,NA11992,NA11993,NA12763,NA12776,NA12828,NA18517,NA18582,NA18605,NA18608,NA18609,NA18960,NA18961,NA19204 esv160935 1 4774491 4778790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv469038,essv490144,essv468902,essv473338,essv446007,essv450409,essv454961,essv440467,essv449276,essv483210,essv482521 M 185 0 11 Samples from several populations that are part of the HapMap project. AJAP1 NA10847,NA11992,NA11994,NA12828,NA18582,NA18592,NA18608,NA18971,NA18972,NA19172,NA19201 nsv830870 1 4795386 4981299 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442062 S 95 0 1 AJAP1 esv2651800 1 4800146 4801190 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5191133 S 1 1 0 AJAP1 NA18507 esv159782 1 4807991 4812290 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv466154,essv485459,essv491480,essv437452,essv468339,essv490146,essv492890,essv447827,essv473786,essv470659,essv471954,essv473031 M 185 0 12 Samples from several populations that are part of the HapMap project. AJAP1 NA07347,NA11919,NA11920,NA11931,NA11995,NA12828,NA18577,NA18605,NA18853,NA18953,NA18961,NA18976 nsv830981 1 4822265 4998251 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442074 S 95 1 0 AJAP1 esv162464 1 4822312 4822667 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528491,essv522065 M 185 0 2 Samples from several populations that are part of the HapMap project. AJAP1 NA06986,NA11919 esv160284 1 4825291 4829790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv444438,essv463366,essv439759,essv482992,essv468469,essv439611,essv447280,essv488410 M 185 0 8 Samples from several populations that are part of the HapMap project. AJAP1 NA18967,NA18971,NA18975,NA18981,NA19098,NA19171,NA19200,NA19204 esv42775 1 4827607 4827754 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv122911 S 6 0 1 Samples from several populations that are part of the HapMap project. AJAP1 NA12878 esv41909 1 4836242 4836476 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110709 S 6 0 1 Samples from several populations that are part of the HapMap project. AJAP1 NA19240 esv37870 1 4871145 4871411 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122010 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv521327 1 4872571 4874505 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697933 S 2026 0 1 "" esv41758 1 4897704 4897946 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112715 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv632 1 4909413 4913572 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2960 S 9 1 0 "" NA18555 esv42469 1 4936660 4937043 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112616 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv40247 1 4991318 4991557 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111494 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv38305 1 4998705 5000760 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123009 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv41069 1 4999432 4999601 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110836 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv7312e59 1 4999450 4999692 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv42490,esv40988,esv42678 M 6 0 3 "" NA12878 esv38934 1 4999546 4999893 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv113089 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv41698 1 4999672 4999901 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111555 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160844 1 5004291 5008790 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv446257,essv468250,essv446081,essv459617,essv441110,essv457424 M 185 0 6 Samples from several populations that are part of the HapMap project. "" NA11831,NA11919,NA11994,NA18510,NA18523,NA18973 esv36731 1 5005191 5007990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115783 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 nsv521101 1 5031379 5054350 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682279,nssv687649 M 2026 0 2 "" esv2483299 1 5053352 5054468 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5225073 S 1 0 1 "" NA18507 esv159664 1 5066591 5070990 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv473578,essv432224,essv455469,essv435392,essv484339,essv473190,essv459834,essv459554,essv481336,essv450372,essv468321,essv437626,essv493728,essv460210,essv478967,essv490100,essv451576 M 185 0 17 Samples from several populations that are part of the HapMap project. "" NA06986,NA11919,NA11920,NA11992,NA11995,NA12154,NA12155,NA12828,NA18510,NA18511,NA18547,NA18564,NA18566,NA18608,NA18953,NA18960,NA19240 nsv525603 1 5068210 5068955 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701747 S 2026 0 1 "" esv271127 1 5089997 5090159 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501380 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19093 esv162412 1 5090014 5090120 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv558069 S 185 0 1 Samples from several populations that are part of the HapMap project. "" NA19093 nsv523740 1 5113911 5170712 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699556 S 2026 1 0 "" nsv460839 1 5113911 5173804 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537339 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00529 esv32797 1 5127270 5168845 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101012 S 51 0 1 "" 21693 esv37473 1 5134791 5136965 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113571,essv113962 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv161253 1 5135091 5136640 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv444229,essv472939,essv438532,essv469504,essv436422,essv446403,essv466072,essv467321,essv442300,essv462846,essv434859,essv463395,essv439180,essv454578,essv479092,essv441769,essv478494,essv433007,essv451073,essv432465,essv429328,essv488576,essv493152,essv455911,essv480713,essv477823,essv456854,essv457843,essv466499,essv485047,essv444909,essv495390,essv490318,essv482309,essv486428,essv434025,essv494354,essv448263,essv486971,essv470292,essv494145,essv431531,essv477415,essv460755,essv447686,essv477039,essv457421,essv454233,essv440035,essv468699,essv430988,essv436961,essv474711,essv483114,essv492269,essv474246,essv452895,essv443080,essv435863,essv448828,essv489452,essv449765 M 185 0 62 Samples from several populations that are part of the HapMap project. "" NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18980,NA18981,NA19005 esv1109223 1 5135781 5135781 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4201133 S 2 1 0 "" HuRef nsv520723 1 5151245 5164424 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697576 S 2026 1 0 "" esv165705 1 5165168 5166076 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162931 S 185 0 2 Samples from several populations that are part of the HapMap project. "" NA19238,NA19257 esv2532762 1 5172047 5172764 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5197882 S 1 1 0 "" NA18507 esv1289856 1 5172490 5172490 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3630167 S 2 1 0 "" HuRef esv37916 1 5174429 5179217 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121855 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2464561 1 5180854 5180930 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5250667 S 1 0 1 "" NA18507 esv36423 1 5196241 5198290 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113956 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv27138 1 5196671 5197414 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13523 S 451 0 1 "" NA19240 esv2465114 1 5220151 5220896 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5290540 S 1 1 0 "" NA18507 esv38829 1 5220192 5220504 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121264 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12891 esv164509 1 5220233 5220345 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv544173,essv544356,essv543326,essv545310,essv550210,essv545634,essv546208,essv551122,essv550046,essv550441,essv542133 M 185 0 11 Samples from several populations that are part of the HapMap project. "" NA10847,NA11831,NA11919,NA12249,NA12761,NA18519,NA18547,NA18562,NA18570,NA18573,NA18608 esv2918 1 5220261 5220607 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25359 S 1 0 1 Single Asian sample YH "" YH esv39433 1 5259051 5259281 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121905 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv35572 1 5273841 5275915 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114264,essv113829 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv161402 1 5274191 5275390 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv456137,essv462406,essv474753,essv481106,essv429176,essv476584,essv441613,essv493305,essv448974,essv453238,essv431350,essv435752,essv436424,essv457467,essv449896,essv478745,essv486424,essv464196,essv474074,essv439961,essv434331,essv456565,essv444961,essv478147,essv466164,essv482024,essv495585,essv490744,essv442936,essv484916,essv446568,essv438882,essv443805,essv448397,essv469150,essv433311,essv472485,essv483135,essv465779,essv432381,essv489808,essv460502,essv487428,essv468952,essv437140,essv450910,essv479124,essv447255,essv431783,essv463287,essv454423,essv434218,essv469862,essv467611,essv453980,essv494740,essv438597,essv472162,essv492534,essv458043,essv442400,essv488734 M 185 0 62 Samples from several populations that are part of the HapMap project. "" NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18975,NA18976,NA18980,NA18981,NA19005 nsv521242 1 5283942 5287108 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697864 S 2026 0 1 "" dgv14e1 1 5289767 5536678 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2534,esv329 M 271 0 0 "" NA19003 esv1963263 1 5306024 5306450 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703012 S 1 0 1 "" NA18507 nsv460950 1 5330757 5348270 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537425 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00998 esv43470 1 5350911 5351276 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv40390 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12892 dgv7313e59 1 5364014 5364263 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv40575,esv43134 M 6 0 7 "" NA12878,NA19238,NA19239,NA19240 esv166345 1 5364078 5364248 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163455 S 185 0 7 Samples from several populations that are part of the HapMap project. "" NA18545,NA18550,NA18552,NA18561,NA18576,NA18593,NA18964 esv40917 1 5389387 5389949 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112117 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv10605 1 5393590 5395013 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28532,nssv21430,nssv29260,nssv24593 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA12802,NA18504 esv1847768 1 5393849 5395007 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4370792 S 6 1 0 "" NA18980 esv162196 1 5424024 5424398 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528542,essv512584 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA11919,NA12043 esv37980 1 5473859 5474721 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv117060,essv116891,essv118455 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv2259894 1 5474029 5474457 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831068 S 1 0 1 "" NA18507 nsv160607 1 5474168 5474241 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179185 M 24 "" esv43067 1 5474213 5474287 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39653,esv40120,esv42787 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1028089 1 5474230 5474305 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224996 S 2 0 1 "" HuRef nsv10716 1 5475030 5476810 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26903 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv831092 1 5493368 5643744 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442085 S 95 1 0 MIR4417 esv42973 1 5545621 5545939 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123185 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2607553 1 5559509 5559610 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5236789 S 1 0 1 "" NA18507 esv161921 1 5559538 5559896 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv497275,essv537470,essv528610,essv507071,essv523472 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA07000,NA11831,NA11919,NA11920,NA12003 nsv527712 1 5623683 5625566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704192 S 2026 0 1 MIR4417 dgv2n21 1 5624529 5625566 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526005,nsv519513 M 2026 0 4 "" esv166597 1 5633689 5633986 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162243 S 185 0 19 Samples from several populations that are part of the HapMap project. "" NA07051,NA11993,NA12004,NA12044,NA12749,NA12750,NA12813,NA12828,NA18486,NA18523,NA18558,NA18853,NA18916,NA18956,NA18967,NA18972,NA18975,NA19098,NA19171 esv1008325 1 5653349 5653349 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3577403 S 3 1 0 "" HuRef esv1402936 1 5653350 5653350 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729262 S 2 1 0 "" HuRef esv2165265 1 5663223 5663590 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4655011 S 1 0 1 "" NA18507 dgv1521e59 1 5663699 5664429 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161813,esv163942 M 185 0 18 "" NA07346,NA11931,NA11993,NA12414,NA12776,NA18505,NA18523,NA18570,NA18861,NA18909,NA18916,NA18943,NA18952,NA19093,NA19210,NA19240 esv2622825 1 5663834 5663894 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5341576 S 1 0 1 "" NA18507 esv161541 1 5691764 5696363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv482654,essv495000,essv455480,essv468258,essv474081 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA11919,NA12155,NA18522,NA18605,NA19172 esv43190 1 5712510 5776383 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv42353 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv39511 1 5715792 5716089 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121446 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12891 esv42854 1 5717111 5717212 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv122908 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv38061 1 5717200 5725979 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122611 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv42546 1 5720376 5720554 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112783 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7314e59 1 5723664 5738163 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37174,esv35412,esv35461,esv35490,esv37009,esv36769 M 6 0 6 "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv40387 1 5725612 5725774 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111233 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7315e59 1 5727581 5728097 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37758,esv40439,esv39654,esv41419 M 6 0 6 "" NA12878,NA19238,NA19239,NA19240 esv38893 1 5727592 5728318 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122357 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 dgv7316e59 1 5727892 5728350 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv42905,esv40819,esv39651 M 6 0 3 "" NA12878,NA19240 dgv7317e59 1 5727974 5728203 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv42630,esv42112 M 6 0 2 "" NA12878 esv41417 1 5728132 5728307 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112491 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2474640 1 5731828 5734689 CNV Gain McKernan_et_al_2009 19546169 Sequencing Not specified essv5304912 S 1 1 0 "" NA18507 esv40397 1 5733649 5734147 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111543 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv42620 1 5734324 5734769 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112250 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv42534 1 5736733 5737186 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111984 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv523099 1 5758772 5765353 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698792 S 2026 1 0 "" esv162825 1 5785651 5785994 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv507164,essv528590,essv509423 M 185 0 3 Samples from several populations that are part of the HapMap project. "" NA07346,NA11919,NA12003 nsv521706 1 5790498 5790655 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698329 S 2026 1 0 "" esv2165525 1 5804042 5804503 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933008 S 1 0 1 "" NA18507 dgv7318e59 1 5804057 5804489 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv38555,esv43765,esv38278 M 6 0 7 "" NA19238,NA19239,NA19240 nsv470688 1 5811124 5913621 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547687,nssv547688 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00546,HGDP00550 esv164455 1 5832713 5832821 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv550657,essv547433 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA12005,NA18871 esv162460 1 5832749 5833100 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv507160,essv521970 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA06986,NA12003 nsv508723 1 5837275 6032008 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619764,nssv623770,nssv619765 M 4 3 0 MIR4689,NPHP4 NA10860,NA18994 esv161067 1 5852464 5856863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv438048,essv494923,essv485601,essv430455,essv433753,essv440397,essv437657,essv450519,essv443298,essv470698,essv486768,essv487808,essv451732,essv492480 M 185 0 14 Samples from several populations that are part of the HapMap project. "" NA11992,NA11995,NA12044,NA12414,NA18517,NA18522,NA18542,NA18582,NA18853,NA18953,NA18960,NA18961,NA19153,NA19159 esv42968 1 5855881 5856401 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123199 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv161590 1 5862064 5866463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv494955,essv449737,essv436067,essv447226,essv468567,essv473041,essv490099,essv444482,essv494576,essv480895,essv439682,essv482538 M 185 0 12 Samples from several populations that are part of the HapMap project. "" NA11920,NA12828,NA18522,NA18552,NA18609,NA18858,NA18943,NA18971,NA18975,NA19098,NA19171,NA19172 esv2444036 1 5862653 5863401 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5245268 S 1 1 0 "" NA18507 dgv7319e59 1 5867164 5871163 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36484,esv36163,esv37411 M 6 0 3 "" NA19238,NA19239,NA19240 esv161517 1 5868414 5871213 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458398,essv461142,essv471168,essv479802,essv484790,essv491514,essv476053,essv464638 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv42859 1 5869091 5869294 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123220 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2487333 1 5869360 5869500 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5391968 S 1 0 1 "" NA18507 esv28776 1 5876593 5878094 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16704,esv10860,esv18182 M 451 0 7 "" NA07045,NA12006,NA12489,NA12878,NA18508,NA18523,NA19147 esv39672 1 5876978 5877433 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122837,essv122176,essv122589 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv1803869 1 5880271 5954899 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4421902 S 6 1 0 MIR4689,NPHP4 NA12239 esv160543 1 5887564 5891863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv469432,essv433594,essv438170,essv455114,essv450407,essv447864,essv460119,essv439867 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07347,NA11992,NA18592,NA18981,NA19153,NA19159,NA19201,NA19240 nsv831203 1 5890090 6027962 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442096,nssv1442118,nssv1442107 M 95 0 3 MIR4689,NPHP4 esv2494780 1 5892204 5892639 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5176671 S 1 1 0 "" NA18507 nsv512712 1 5892315 5892438 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625336 S 1 1 0 "" 1 esv1660216 1 5892367 5892367 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159802 S 2 1 0 "" HuRef esv163780 1 5905798 5906142 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv521904,essv535766 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA06986,NA11992 nsv518390 1 5906337 5913621 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695820 S 2026 1 0 "" esv41000 1 5912505 5913043 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111210 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv163188 1 5922204 5922542 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv537598,essv533498 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA11831,NA12004 esv161746 1 5926564 5931363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv455515,essv439916,essv439637,essv468184,essv466422,essv437674 M 185 0 6 Samples from several populations that are part of the HapMap project. NPHP4 NA11919,NA12043,NA12155,NA18953,NA18981,NA19171 esv160346 1 5927414 5930213 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475889,essv461740,essv459127,essv484731,essv471498,essv464542,essv479441,essv491437 M 185 0 8 Samples from several populations that are part of the HapMap project. NPHP4 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv42953 1 5928859 5929162 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123339 S 6 0 1 Samples from several populations that are part of the HapMap project. NPHP4 NA12878 nsv825586 1 5933761 5934633 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423942 S 31 0 1 NPHP4 NA18582 dgv1522e59 1 5934267 5934333 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv164788,esv163848 M 185 0 37 NPHP4 NA07000,NA07037,NA10847,NA11881,NA11919,NA11992,NA11994,NA11995,NA12006,NA12043,NA12045,NA12144,NA12155,NA12156,NA12249,NA12716,NA12761,NA12812,NA12815,NA18499,NA18501,NA18502,NA18511,NA18517,NA18519,NA18523,NA18853,NA18858,NA18907,NA18916,NA19108,NA19114,NA19116,NA19137,NA19190 esv41325 1 5934267 5934333 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112977 S 6 0 1 Samples from several populations that are part of the HapMap project. NPHP4 NA12878 esv267940 1 5934269 5934568 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2537008,essv2560651,essv2531812,essv2544022,essv2561318,essv2526292,essv2546759,essv2565503,essv2556995,essv2560838,essv2566798,essv2550074,essv2557449,essv2550523,essv2577694,essv2548522,essv2520239,essv2520650,essv2538004,essv2552344,essv2551010,essv2548990,essv2534982,essv2528266,essv2521758,essv2538991,essv2525217,essv2563519,essv2556816,essv2526664,essv2576291,essv2560424,essv2577574,essv2546492,essv2533980,essv2528121,essv2542430,essv2568304,essv2537454,essv2538589 M 157 40 0 Samples from several populations that are part of the HapMap project. NPHP4 NA07000,NA07037,NA10847,NA11881,NA11918,NA11919,NA11992,NA11994,NA11995,NA12006,NA12043,NA12045,NA12144,NA12155,NA12156,NA12249,NA12716,NA12761,NA12812,NA12814,NA12815,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18511,NA18517,NA18519,NA18523,NA18853,NA18858,NA18907,NA18916,NA19108,NA19114,NA19116,NA19137,NA19190 esv274438 1 5934274 5934563 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582865,essv2581767,essv2582322 M 7 3 0 Samples from several populations that are part of the HapMap project. NPHP4 NA12878,NA12891,NA12892 esv161288 1 5937864 5942063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492154,essv455119,essv455514,essv473340,essv449261,essv468163,essv445982,essv460224,essv439835,essv440502,essv474999,essv486591,essv451685,essv437450,essv452347,essv438086,essv463499 M 185 0 17 Samples from several populations that are part of the HapMap project. NPHP4 NA10847,NA11919,NA11994,NA12155,NA18542,NA18582,NA18608,NA18947,NA18953,NA18960,NA18961,NA18967,NA18981,NA19159,NA19160,NA19201,NA19240 esv42922 1 5944791 5945356 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123279 S 6 0 1 Samples from several populations that are part of the HapMap project. NPHP4 NA12878 nsv831314 1 5949469 6123057 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442140,nssv1442162,nssv1442129,nssv1442151 M 95 0 4 KCNAB2,NPHP4 nsv743 1 5962129 6007387 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9178 S 9 0 1 NPHP4 NA12156 esv162361 1 5997218 5997585 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv509522,essv522096 M 185 0 2 Samples from several populations that are part of the HapMap project. NPHP4 NA06986,NA07346 esv162211 1 6029968 6030292 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv522085,essv522196 M 185 0 2 Samples from several populations that are part of the HapMap project. NPHP4 NA06986,NA11994 nsv506919 1 6035606 6041606 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623262 S 4 1 0 NPHP4 NA18994 esv39600 1 6036303 6038921 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123123 S 6 0 1 Samples from several populations that are part of the HapMap project. NPHP4 NA19240 esv33437 1 6037569 6038037 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101160,essv101040,essv94798,essv94307,essv97813,essv95744,essv93021,essv94480,essv92840,essv97100,essv93510,essv92517,essv99200,essv100607 M 51 14 0 NPHP4 21618,21693,21791,21808,21837,21841,21863,21932,21939,22075,22128,22233,22275,22298 esv39530 1 6037802 6038218 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv113050 S 6 0 1 Samples from several populations that are part of the HapMap project. NPHP4 NA12878 nsv520207 1 6042934 6046264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697281 S 2026 0 1 NPHP4 esv161203 1 6050789 6053738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484620,essv475960,essv471059,essv458783,essv465310,essv479644,essv461655,essv491476 M 185 0 8 Samples from several populations that are part of the HapMap project. KCNAB2,NPHP4 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1841959 1 6053630 6169261 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4401825 S 6 0 1 CHD5,KCNAB2 NA10851 esv1821424 1 6063655 6066636 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4400425 S 6 0 1 KCNAB2 NA18576 esv161181 1 6064189 6066738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464296,essv476054,essv471763,essv458677,essv485818,essv461955,essv491794,essv480094 M 185 0 8 Samples from several populations that are part of the HapMap project. KCNAB2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv2470104 1 6064711 6066988 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5382298 S 1 0 1 KCNAB2 NA18507 esv22772 1 6064750 6066933 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19261,esv17376,esv15196 M 451 27 1 KCNAB2 NA06985,NA07037,NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12287,NA12414,NA12749,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240 esv160655 1 6064814 6066013 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv472505,essv437058,essv495393,essv479026,essv481146,essv494012,essv453874,essv486791,essv439803,essv474193,essv463110,essv456346,essv477188,essv485343,essv487206,essv443958,essv454895,essv472251,essv469247,essv468676,essv446603,essv448073,essv467605,essv439426,essv491471,essv483928,essv430948,essv490741,essv477756,essv444652,essv466638,essv434660,essv443236,essv457993,essv450253,essv442290,essv488688,essv463754,essv429288,essv489833,essv483337,essv474990,essv452811,essv465665,essv447577,essv477011,essv456102,essv436754,essv431782,essv432926,essv460767,essv432399,essv478165,essv441520,essv438344,essv450763,essv448653,essv470438,essv462783,essv433775 M 185 0 60 Samples from several populations that are part of the HapMap project. KCNAB2 NA06994,NA11881,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18971,NA18972,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 dgv7320e59 1 6064967 6065194 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv40646,esv40338 M 6 0 2 KCNAB2 NA12878 esv159835 1 6064989 6067938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475724,essv491685,essv459156,essv479957,essv461440,essv471130,essv465305,essv485732 M 185 0 8 Samples from several populations that are part of the HapMap project. KCNAB2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv1523e59 1 6064993 6065494 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv163991,esv165826 M 185 0 65 KCNAB2 NA07037,NA07347,NA11881,NA11931,NA11995,NA12004,NA12006,NA12249,NA12414,NA12489,NA12750,NA18502,NA18508,NA18519,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18582,NA18593,NA18605,NA18608,NA18638,NA18853,NA18858,NA18861,NA18909,NA18916,NA18940,NA18944,NA18948,NA18951,NA18980,NA19108,NA19114,NA19129,NA19138,NA19190,NA19238,NA19240 dgv40e188 1 6065112 6066636 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1850917,esv1843764 M 6 0 2 KCNAB2 NA18980 esv43369 1 6065138 6065495 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38602,esv39023,esv39328 M 6 0 6 Samples from several populations that are part of the HapMap project. KCNAB2 NA19238,NA19239,NA19240 nsv159264 1 6065293 6065490 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177842 M 24 KCNAB2 esv162822 1 6065454 6067055 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv568376 S 185 0 1 Samples from several populations that are part of the HapMap project. KCNAB2 NA12044 esv43224 1 6065791 6066537 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv35987,esv38889,esv36660,esv38736 M 6 0 5 Samples from several populations that are part of the HapMap project. KCNAB2 NA19239,NA19240 dgv1524e59 1 6065841 6066729 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv166023,esv162628,esv162288 M 185 0 48 KCNAB2 NA06986,NA07000,NA07037,NA07051,NA10851,NA11830,NA11831,NA11894,NA11992,NA12006,NA12249,NA12716,NA12750,NA12761,NA18489,NA18499,NA18501,NA18508,NA18555,NA18564,NA18570,NA18572,NA18577,NA18603,NA18638,NA18856,NA18870,NA18871,NA18907,NA18912,NA18952,NA18965,NA19102,NA19108,NA19129,NA19239,NA19240 nsv511675 1 6065857 6066800 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626313 S 1 0 1 KCNAB2 1 esv7234 1 6065971 6066419 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29675 S 1 0 1 KCNAB2 SJK esv1840170 1 6066047 6070870 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4386334 S 6 0 1 KCNAB2 NA10851 nsv511127 1 6066099 6070870 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626143 S 1 0 1 KCNAB2 1 esv38966 1 6072222 6072586 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122642 S 6 0 1 Samples from several populations that are part of the HapMap project. KCNAB2 NA19239 esv40393 1 6074236 6074573 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111912 S 6 0 1 Samples from several populations that are part of the HapMap project. KCNAB2 NA12878 esv159740 1 6079864 6084263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv437576,essv452585,essv450395,essv455415,essv485207 M 185 0 5 Samples from several populations that are part of the HapMap project. KCNAB2 NA11992,NA11995,NA12155,NA18953,NA19119 esv161184 1 6088564 6092963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv482900,essv494737,essv483365,essv440234,essv441045,essv437817,essv464439,essv479708,essv447296,essv449442,essv439596 M 185 0 11 Samples from several populations that are part of the HapMap project. KCNAB2 NA07346,NA11831,NA11832,NA18552,NA18871,NA18972,NA18975,NA18981,NA19138,NA19171,NA19200 nsv461283 1 6108377 6184092 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537694 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHD5,KCNAB2 HGDP00491 dgv41e188 1 6141325 6169261 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1842232,esv1838151 M 6 0 2 CHD5,KCNAB2 NA10851 nsv470689 1 6149122 6233573 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547692,nssv547694,nssv547691,nssv547693 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHD5,KCNAB2 HGDP00288,HGDP00323,HGDP00657,HGDP01397 esv35598 1 6154714 6157213 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115201 S 6 0 1 Samples from several populations that are part of the HapMap project. KCNAB2 NA12892 nsv825697 1 6161760 6162540 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431963 S 31 1 0 CHD5 NA18972 esv160583 1 6165764 6170863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv469118,essv446789,essv447651,essv429967,essv455121,essv456906,essv459523,essv449168,essv435247,essv484117,essv450411,essv438914,essv449382,essv472252,essv462935,essv444353,essv440564,essv439990 M 185 0 18 Samples from several populations that are part of the HapMap project. CHD5 NA06994,NA10847,NA11992,NA12003,NA12249,NA12717,NA12763,NA12813,NA18510,NA18582,NA18592,NA18967,NA18975,NA18976,NA18981,NA19098,NA19138,NA19201 esv21998 1 6166718 6169303 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17786 S 451 1 0 CHD5 NA06985 esv164614 1 6167051 6167144 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv545327,essv545896 M 185 0 2 Samples from several populations that are part of the HapMap project. CHD5 NA12891,NA18508 nsv831425 1 6189351 6324478 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442173,nssv1442196,nssv1442185 M 95 0 3 ACOT7,CHD5,GPR153,HES3,ICMT,RNF207,RPL22 nsv818555 1 6190215 6212870 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417552 S 112 0 1 CHD5 NA18971 nsv854 1 6191265 6236143 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7151 S 9 0 1 CHD5 NA12156 esv37503 1 6208064 6211363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115843 S 6 0 1 Samples from several populations that are part of the HapMap project. CHD5 NA19239 esv161593 1 6208164 6212763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv482570,essv439794,essv489265,essv444435,essv450453,essv438931,essv456443,essv468248,essv463073,essv483025,essv487589 M 185 0 11 Samples from several populations that are part of the HapMap project. CHD5 NA11919,NA11992,NA12763,NA12813,NA18520,NA18967,NA18981,NA19098,NA19152,NA19172,NA19200 esv42934 1 6216702 6216891 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123342 S 6 0 1 Samples from several populations that are part of the HapMap project. CHD5 NA12878 esv160109 1 6232764 6237563 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv472409,essv475226,essv438985,essv439705,essv440152 M 185 0 5 Samples from several populations that are part of the HapMap project. CHD5 NA12776,NA12813,NA18976,NA18981,NA19171 esv159979 1 6237664 6241863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv440208,essv453817,essv467138,essv469020,essv477364,essv470602,essv460237,essv493666,essv437088,essv489240,essv445367,essv447819,essv455940,essv445337,essv494382,essv481588,essv452933,essv463310,essv465000,essv454339,essv482844,essv483404,essv437686,essv472366,essv430200,essv454994,essv444372,essv449171,essv488196,essv491401,essv493190,essv488336,essv491127,essv435256,essv437874,essv430790,essv457975,essv490054,essv429815,essv446057,essv451882,essv459473,essv466550,essv438889,essv461737,essv451328,essv488026,essv461019,essv456532,essv444603,essv466912,essv483807,essv481294,essv455565,essv445765,essv459859,essv450475,essv443034,essv441057,essv444293,essv441327,essv460002,essv468358,essv473271,essv481973,essv467945,essv495111,essv432609,essv451603,essv482891,essv462555,essv438016,essv478480,essv487333,essv429781,essv482401,essv474859,essv452611,essv447568,essv439686,essv431952,essv469818,essv468591,essv438760,essv480591,essv490878,essv474402,essv470115,essv467644,essv449809,essv476722,essv479268,essv445875,essv452166,essv487593,essv480188,essv449465,essv473352,essv451298,essv455134 M 185 0 100 Samples from several populations that are part of the HapMap project. CHD5 NA06986,NA06994,NA07000,NA07346,NA07347,NA07357,NA10847,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA11993,NA11994,NA12003,NA12004,NA12043,NA12044,NA12045,NA12154,NA12155,NA12249,NA12716,NA12750,NA12751,NA12761,NA12763,NA12813,NA12828,NA12878,NA12892,NA18489,NA18498,NA18499,NA18501,NA18504,NA18510,NA18519,NA18520,NA18522,NA18526,NA18537,NA18545,NA18547,NA18552,NA18555,NA18558,NA18564,NA18566,NA18570,NA18572,NA18576,NA18579,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18856,NA18870,NA18871,NA18909,NA18912,NA18940,NA18947,NA18948,NA18953,NA18959,NA18960,NA18961,NA18964,NA18967,NA18968,NA18971,NA18972,NA18974,NA18975,NA18976,NA18981,NA19093,NA19098,NA19102,NA19119,NA19137,NA19138,NA19152,NA19159,NA19160,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19238,NA19239,NA19240 dgv7321e59 1 6238164 6241863 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37233,esv37609 M 6 0 5 CHD5 NA12878,NA19238,NA19239,NA19240 dgv1525e59 1 6238989 6242238 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160622,esv160900 M 185 0 16 CHD5 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv41277 1 6263792 6264302 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112664 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv36465 1 6268264 6270263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114059 S 6 0 1 Samples from several populations that are part of the HapMap project. RNF207 NA12878 dgv8n67 1 6280681 6324363 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825919,nsv825808 M 31 2 0 ACOT7,GPR153,HES3,ICMT,RNF207 AK6,NA18969 nsv508825 1 6281335 6346609 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623771 S 4 1 0 ACOT7,GPR153,HES3,ICMT,RNF207 NA18994 esv160444 1 6294889 6297738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485812,essv458672,essv480274,essv464316,essv461480,essv491584,essv475533,essv470915 M 185 0 8 Samples from several populations that are part of the HapMap project. ICMT NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36153 1 6294914 6297288 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115787,essv114474,essv115310 M 6 0 3 Samples from several populations that are part of the HapMap project. ICMT NA12878,NA19239,NA19240 dgv1526e59 1 6300989 6304238 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160884,esv160623 M 185 0 16 "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35640 1 6301764 6303913 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114692 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv526371 1 6307255 6367219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702667 S 2026 0 1 ACOT7,GPR153 esv160210 1 6307464 6311763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv431743,essv468556,essv463115,essv491159,essv477128,essv447912,essv459603,essv452298,essv487016,essv493961,essv455013,essv451186,essv482497,essv430126,essv450588,essv429633,essv489596,essv445244,essv452676,essv467858,essv440992,essv439555,essv488203,essv459743,essv491540,essv453029,essv484135,essv449706,essv447196,essv493132,essv437609,essv452409,essv465472,essv473427,essv495013,essv432282,essv445885,essv444450,essv482672,essv490871,essv481749,essv489349,essv437793,essv466871,essv440673,essv445001,essv488014,essv456796,essv451510,essv481450,essv459994,essv449278,essv475194,essv429799,essv481418,essv460818,essv441319,essv466418,essv438969,essv455498,essv461930,essv443748,essv446034,essv479338,essv473280,essv468130,essv446532,essv435270,essv467040,essv484643,essv450489,essv465314,essv430607,essv472230,essv455302,essv475410,essv430965,essv487532,essv483390,essv453882,essv433744,essv469776,essv487821,essv451618,essv432783,essv474720,essv448836,essv474386,essv451854,essv438022 M 185 0 90 Samples from several populations that are part of the HapMap project. GPR153 NA06986,NA06994,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA11994,NA11995,NA12003,NA12043,NA12045,NA12154,NA12155,NA12249,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12813,NA12878,NA12892,NA18489,NA18498,NA18499,NA18501,NA18504,NA18510,NA18517,NA18519,NA18520,NA18522,NA18526,NA18561,NA18562,NA18564,NA18579,NA18608,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18912,NA18940,NA18945,NA18947,NA18949,NA18952,NA18953,NA18959,NA18960,NA18961,NA18964,NA18967,NA18968,NA18971,NA18972,NA18974,NA18975,NA18976,NA19093,NA19098,NA19102,NA19114,NA19119,NA19129,NA19137,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19190,NA19201,NA19238,NA19239,NA19257 esv35773 1 6308264 6312163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113232 S 6 0 1 Samples from several populations that are part of the HapMap project. GPR153 NA19238 esv35305 1 6308764 6310938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114297,essv116294 M 6 0 2 Samples from several populations that are part of the HapMap project. GPR153 NA12878,NA19239 nsv965 1 6313180 6357882 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7223 S 9 0 1 ACOT7,GPR153 NA12156 dgv1527e59 1 6319389 6322363 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161742,esv161460 M 185 0 61 GPR153 NA06994,NA07346,NA11830,NA11832,NA11881,NA11993,NA11995,NA12004,NA12044,NA12144,NA12156,NA12287,NA12717,NA12749,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18572,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18943,NA18944,NA18948,NA18949,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA19257 esv35942 1 6320264 6322313 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114410 S 6 0 1 Samples from several populations that are part of the HapMap project. GPR153 NA12878 nsv519253 1 6322936 6330015 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696748 S 2026 0 1 ACOT7 esv24092 1 6366319 6368893 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18277 S 451 0 1 ACOT7 NA19240 nsv522013 1 6367219 6456472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694782 S 2026 0 1 ACOT7 nsv521525 1 6379607 6387784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698142 S 2026 0 1 ACOT7 nsv1076 1 6385350 6429582 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2226 S 9 0 1 ACOT7 NA18555 nsv523989 1 6411214 6456472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699845 S 2026 0 1 ACOT7 esv162567 1 6428311 6428740 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv522016,essv537653 M 185 0 2 Samples from several populations that are part of the HapMap project. ACOT7 NA06986,NA11831 esv165822 1 6438016 6446070 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163559 S 185 0 2 Samples from several populations that are part of the HapMap project. ACOT7 NA12044,NA18558 esv21684 1 6438194 6445835 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12785 S 451 0 1 ACOT7 NA12044 esv36104 1 6452289 6455013 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113912,essv115195,essv113128 M 6 0 3 Samples from several populations that are part of the HapMap project. ACOT7 NA12878,NA12892,NA19238 dgv1528e59 1 6452389 6455413 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161754,esv160985 M 185 0 43 ACOT7 NA06994,NA07346,NA11830,NA11832,NA11993,NA11995,NA12004,NA12044,NA12144,NA12287,NA12717,NA12749,NA12751,NA12761,NA12763,NA18532,NA18537,NA18542,NA18558,NA18564,NA18572,NA18593,NA18940,NA18942,NA18945,NA18949,NA18951,NA18959,NA18961,NA18964,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA19005,NA19257 dgv2n27 1 6456472 6572175 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461839,nsv461950,nsv461728,nsv461616 M 1557 0 4 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 1780862021_A,HGDP00814,NINDS_66,NINDS_98 esv43192 1 6458501 6459691 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38262,esv40025,esv37029 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA19239 esv165631 1 6458545 6459699 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162298 S 185 0 9 Samples from several populations that are part of the HapMap project. "" NA12813,NA18489,NA18498,NA18505,NA18517,NA18523,NA18853,NA19131,NA19210 esv42182 1 6458547 6458987 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111307 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv29840 1 6458853 6459551 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11459 S 451 0 2 "" NA18517,NA18523 nsv508836 1 6466956 6561089 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619766 S 4 1 0 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 NA10860 esv25412 1 6476628 6521516 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14500 S 451 1 2 ESPN,HES2,MIR4252,TNFRSF25 NA12489,NA18916,NA19147 esv160966 1 6477789 6480338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485676,essv491448,essv475582,essv461790,essv465097,essv458968,essv480501,essv471577 M 185 0 8 Samples from several populations that are part of the HapMap project. HES2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv7880 1 6478028 6671974 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21438,nssv24605,nssv11789 M 31 1 2 Samples from several populations that are part of the HapMap project. ESPN,HES2,KLHL21,MIR4252,NOL9,PLEKHG5,TAS1R1,TNFRSF25,ZBTB48 NA18517,NA18564,NA19173 esv161691 1 6478389 6481338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461758,essv471821,essv465381,essv491557,essv479567,essv485896,essv476377,essv459183 M 185 0 8 Samples from several populations that are part of the HapMap project. HES2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160360 1 6482964 6487163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv435315,essv454261,essv479362,essv482446,essv468346,essv469073,essv435626,essv452858,essv460889,essv481295,essv452373,essv455545,essv441172,essv452601,essv488020,essv454544,essv481541,essv432590,essv449500,essv473950,essv465369,essv470648,essv441344,essv474495,essv488458,essv437759,essv446056,essv432699,essv475293,essv459702,essv490001,essv467118,essv447798,essv484589,essv450496,essv473198,essv444799,essv446731,essv459486,essv451868,essv444078,essv462058,essv486476,essv445824,essv440186,essv492401,essv451635,essv462989,essv438162,essv447291,essv473330,essv430207,essv472082,essv489160,essv468718,essv437441,essv452265,essv456417,essv491018,essv439565,essv495152,essv466948,essv441994 M 185 0 63 Samples from several populations that are part of the HapMap project. ESPN NA06986,NA07037,NA07051,NA07346,NA07347,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA11994,NA11995,NA12003,NA12045,NA12154,NA12155,NA12716,NA12717,NA12751,NA12761,NA12763,NA12776,NA12828,NA12892,NA18489,NA18498,NA18499,NA18504,NA18510,NA18519,NA18520,NA18522,NA18542,NA18564,NA18592,NA18605,NA18608,NA18853,NA18856,NA18870,NA18871,NA18912,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18967,NA18971,NA18975,NA18976,NA18981,NA19005,NA19119,NA19131,NA19138,NA19159,NA19160,NA19171,NA19172,NA19204 esv37166 1 6483914 6486063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114454 S 6 0 1 Samples from several populations that are part of the HapMap project. ESPN NA12878 nsv482179 1 6484848 6521003 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558540 S 1 1 0 ESPN,MIR4252 KB1 dgv42e188 1 6487032 6520433 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1827209,esv1827447,esv1811346,esv1814698,esv1829776,esv1825005 M 6 0 6 ESPN,MIR4252 NA15510,NA18517 nsv831536 1 6489386 6665403 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442207,nssv1442262,nssv1442251,nssv1442296,nssv1442362,nssv1442284,nssv1442351,nssv1442273,nssv1442240,nssv1442218,nssv1442307,nssv1442373,nssv1442318,nssv1442329,nssv1442340,nssv1442229 M 95 0 16 ESPN,KLHL21,MIR4252,NOL9,PLEKHG5,TAS1R1,TNFRSF25,ZBTB48 dgv9n67 1 6489926 6524490 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826030,nsv826142 M 31 2 0 ESPN,MIR4252,TNFRSF25 NA18564,NA18969 nsv470690 1 6494399 6572175 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547695 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ESPN,PLEKHG5,TNFRSF25 HGDP00553 esv160751 1 6499389 6502238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458530,essv492449,essv461401,essv484793,essv479606,essv464414,essv470837,essv476175 M 185 0 8 Samples from several populations that are part of the HapMap project. ESPN NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160461 1 6507589 6510338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv462050,essv491235,essv458516,essv471542,essv464832,essv484974,essv480107,essv476286 M 185 0 8 Samples from several populations that are part of the HapMap project. ESPN NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160396 1 6513064 6517463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv467967,essv472178,essv453919,essv467804,essv456680,essv445899,essv490950,essv492629,essv488130,essv432112,essv478170,essv447948,essv438219,essv451597,essv474521,essv449469,essv483054,essv460873,essv452315,essv438988,essv459514,essv447277,essv483343,essv482604,essv432779,essv439605,essv484888,essv452489,essv430612,essv440709,essv455633,essv437724,essv464613,essv441100,essv435303,essv441358,essv461526,essv481434,essv451435,essv446572,essv429847,essv446036,essv487962,essv459812,essv468318,essv479457,essv473058,essv450398,essv483842,essv445292,essv444392,essv452883,essv445415,essv453634,essv457569,essv489359,essv440377,essv493668,essv473534,essv493350,essv455179,essv469408,essv495137,essv480790,essv469669,essv438774,essv466994,essv466872,essv460190,essv437712,essv445053 M 185 0 71 Samples from several populations that are part of the HapMap project. ESPN NA06986,NA06994,NA07000,NA07037,NA07051,NA07346,NA07347,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA11994,NA11995,NA12003,NA12045,NA12154,NA12155,NA12249,NA12716,NA12717,NA12750,NA12751,NA12763,NA12813,NA18489,NA18498,NA18504,NA18510,NA18519,NA18520,NA18522,NA18558,NA18564,NA18566,NA18576,NA18582,NA18592,NA18608,NA18609,NA18638,NA18861,NA18870,NA18871,NA18907,NA18912,NA18953,NA18959,NA18960,NA18961,NA18964,NA18968,NA18972,NA18975,NA18976,NA19098,NA19102,NA19108,NA19137,NA19138,NA19159,NA19160,NA19171,NA19172,NA19200,NA19207,NA19225,NA19238,NA19239,NA19240 nsv470691 1 6520311 6577765 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547696 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ESPN,PLEKHG5,TNFRSF25 HGDP00978 nsv462061 1 6523430 6580896 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538332 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLEKHG5,TNFRSF25 HGDP00614 esv35779 1 6544764 6547063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114168 S 6 0 1 Samples from several populations that are part of the HapMap project. PLEKHG5 NA12878 nsv1187 1 6547844 6567465 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3152 S 9 1 0 PLEKHG5 NA12878 esv161366 1 6556189 6558738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475412,essv479763,essv471698,essv461293,essv459273,essv465222,essv485469,essv492080 M 185 0 8 Samples from several populations that are part of the HapMap project. PLEKHG5 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv831647 1 6585869 6647590 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442451,nssv1442384,nssv1442506,nssv1442440,nssv1442395,nssv1442418,nssv1442473,nssv1442407,nssv1442518,nssv1442429,nssv1442529,nssv1442495,nssv1442462,nssv1442484,nssv1442540 M 95 0 15 NOL9,TAS1R1,ZBTB48 esv1834048 1 6614230 6615469 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4412383 S 6 0 1 NOL9,TAS1R1 NA10851 esv1249079 1 6618972 6618972 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064753 S 2 1 0 TAS1R1 HuRef esv43047 1 6620360 6630305 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123139 S 6 0 1 Samples from several populations that are part of the HapMap project. TAS1R1 NA12878 esv259781 1 6620440 6630419 OTHER Complex Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv2398444,essv2396471,essv2395903 M 144 0 0 Samples from several populations that are part of the HapMap project. TAS1R1 NA18517,NA18871,NA18945 esv159745 1 6659864 6664963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv495062,essv439607,essv472328,essv455361,essv474409,essv460129,essv447288,essv453159,essv439994,essv451730,essv468420,essv466779,essv490085,essv459537,essv455648,essv446741,essv447976,essv450321,essv475319,essv441169,essv480159,essv464852,essv460839,essv449259,essv466397,essv483711,essv446059,essv435309,essv481286,essv461572,essv467195,essv441367,essv437839,essv470525,essv490845,essv454204,essv437568,essv489312,essv438026,essv468796,essv475433,essv430049,essv492716,essv456533,essv430202,essv482641,essv459806,essv467932 M 185 0 48 Samples from several populations that are part of the HapMap project. KLHL21 NA06986,NA06994,NA07346,NA07347,NA10847,NA11830,NA11831,NA11832,NA11919,NA11992,NA11994,NA12003,NA12043,NA12045,NA12154,NA12155,NA12249,NA12716,NA12717,NA12763,NA12776,NA12828,NA18489,NA18504,NA18510,NA18519,NA18520,NA18522,NA18853,NA18856,NA18871,NA18912,NA18953,NA18959,NA18960,NA18961,NA18964,NA18971,NA18975,NA18976,NA18981,NA19102,NA19137,NA19159,NA19171,NA19172,NA19240,NA19257 nsv826253 1 6660245 6688703 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426369 S 31 1 0 KLHL21,PHF13,THAP3 AK6 esv159907 1 6661789 6664338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476331,essv458269,essv492489,essv465057,essv461797,essv470823,essv485389,essv479683 M 185 0 8 Samples from several populations that are part of the HapMap project. KLHL21 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161686 1 6672389 6676738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475339,essv459428,essv484304,essv471756,essv461703,essv465411,essv479536,essv491436 M 185 0 8 Samples from several populations that are part of the HapMap project. PHF13 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35620 1 6672614 6676613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115808,essv113481 M 6 0 2 Samples from several populations that are part of the HapMap project. PHF13 NA19238,NA19239 esv161001 1 6684189 6686738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471010,essv479790,essv459146,essv462221,essv465012,essv484610,essv492013,essv475468 M 185 0 8 Samples from several populations that are part of the HapMap project. THAP3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36364 1 6684514 6686863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114646 S 6 0 1 Samples from several populations that are part of the HapMap project. THAP3 NA12878 esv41623 1 6687007 6687353 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112306 S 6 0 1 Samples from several populations that are part of the HapMap project. THAP3 NA12878 esv42149 1 6687250 6687521 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111363 S 6 0 1 Samples from several populations that are part of the HapMap project. THAP3 NA12878 nsv437199 1 6702151 6803747 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467080 S 60 0 1 Samples from several populations that are part of the HapMap project. DNAJC11 NA19205 esv41889 1 6706196 6706634 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112609 S 6 0 1 Samples from several populations that are part of the HapMap project. DNAJC11 NA12878 esv2640779 1 6728607 6729873 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5234545 S 1 0 1 DNAJC11 NA18507 esv2237641 1 6729218 6729787 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834781 S 1 0 1 DNAJC11 NA18507 nsv1298 1 6738208 6758452 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4861 S 9 1 0 DNAJC11 NA19129 esv40633 1 6752608 6753179 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111213 S 6 0 1 Samples from several populations that are part of the HapMap project. DNAJC11 NA12878 nsv525013 1 6756434 6761261 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701050 S 2026 0 1 DNAJC11 esv160044 1 6760789 6763338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv465219,essv475501,essv471083,essv485364,essv480221,essv458387,essv461994,essv491882 M 185 0 8 Samples from several populations that are part of the HapMap project. DNAJC11 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv28409 1 6762626 6763496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18257 S 451 0 1 "" NA18909 esv28362 1 6787516 6793395 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14015 S 451 1 0 "" NA19225 esv37471 1 6801764 6803813 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114453 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv512713 1 6802507 6802802 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625337 S 1 1 0 "" 1 esv41085 1 6802567 6802787 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112031 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv1464790 1 6802621 6802621 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709090 S 2 1 0 "" HuRef esv42725 1 6809730 6809947 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123219 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv159873 1 6843589 6846138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475748,essv484462,essv471807,essv479706,essv459379,essv464234,essv492686,essv462172 M 185 0 8 Samples from several populations that are part of the HapMap project. CAMTA1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36708 1 6844264 6846538 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114564 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878 esv159670 1 6844389 6847338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475827,essv458424,essv479544,essv465190,essv484428,essv461143,essv491785,essv471380 M 185 0 8 Samples from several populations that are part of the HapMap project. CAMTA1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161245 1 6845314 6846613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv460681,essv494076,essv487159,essv479110,essv472573,essv440291,essv469995,essv495657,essv433162,essv477321,essv457389,essv434283,essv449992,essv431801,essv483406,essv486408,essv451116,essv477938,essv448835,essv462786,essv467240,essv452855,essv443105,essv434533,essv443954,essv458161,essv490327,essv482226,essv439217,essv456546,essv445131,essv466337,essv446516,essv485579,essv484063,essv494824,essv454912,essv472459,essv480612,essv431212,essv436851,essv474269,essv489613,essv441690,essv438830,essv463216,essv429113,essv493559,essv432619,essv455805,essv489081,essv442123,essv447423,essv448036,essv492697,essv469521,essv436440,essv476822,essv463855,essv474618,essv435858,essv478615 M 185 0 62 Samples from several populations that are part of the HapMap project. CAMTA1 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18961,NA18964,NA18965,NA18967,NA18968,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv1979443 1 6858542 6858971 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873252 S 1 0 1 CAMTA1 NA18507 esv1086035 1 6858652 6858831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780745 S 2 0 1 CAMTA1 HuRef esv999225 1 6858656 6858832 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3581910 S 3 0 1 CAMTA1 HuRef esv25521 1 6861345 6861918 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20468 S 451 0 1 CAMTA1 NA18909 esv161864 1 6986000 6986334 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv500564,essv516374 M 185 0 2 Samples from several populations that are part of the HapMap project. CAMTA1 NA12155,NA12489 esv160090 1 6995164 6999863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv440313,essv494544,essv439057,essv472105 M 185 0 4 Samples from several populations that are part of the HapMap project. CAMTA1 NA12813,NA18552,NA18976,NA18981 esv2556451 1 7000416 7001246 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5345164 S 1 1 0 CAMTA1 NA18507 esv39022 1 7000594 7001577 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123065 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA19240 nsv512714 1 7000943 7000999 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625338 S 1 1 0 CAMTA1 1 esv1590628 1 7000995 7000995 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106152 S 2 1 0 CAMTA1 HuRef dgv43e188 1 7011805 7023494 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1797626,esv1793210,esv1838821,esv1838832 M 6 0 4 CAMTA1 NA10851,NA12239 esv160144 1 7021389 7023938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491266,essv476437,essv480511,essv459437,essv462074,essv484912,essv470751,essv464993 M 185 0 8 Samples from several populations that are part of the HapMap project. CAMTA1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36336 1 7021514 7023813 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116305 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA19239 esv28688 1 7022668 7023529 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12322 S 451 0 2 CAMTA1 NA12489,NA18517 esv165026 1 7023933 7024010 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv545802,essv548634,essv546765 M 185 0 3 Samples from several populations that are part of the HapMap project. CAMTA1 NA18572,NA18582,NA19099 esv2482000 1 7043630 7044699 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5354983 S 1 1 0 CAMTA1 NA18507 esv42068 1 7043864 7044075 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111175 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878 esv42628 1 7043978 7044191 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112547 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878 esv988826 1 7078203 7078203 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3566621 S 3 1 0 CAMTA1 HuRef nsv519205 1 7090216 7099660 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696693 S 2026 0 1 CAMTA1 esv42742 1 7115986 7116052 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123232 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878 esv990496 1 7147391 7159783 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3563883 S 3 0 1 CAMTA1 HuRef esv159809 1 7159764 7163963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv429993,essv442768,essv488401,essv439921,essv446302,essv450563,essv445967,essv447835,essv464336,essv443529,essv468296,essv457049,essv452216,essv445563,essv469336,essv483602,essv447760 M 185 0 17 Samples from several populations that are part of the HapMap project. CAMTA1 NA07347,NA10851,NA11832,NA11919,NA11992,NA11994,NA12249,NA18523,NA18592,NA18603,NA18638,NA18972,NA18973,NA18975,NA18981,NA19160,NA19204 esv160825 1 7161464 7166363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv495035,essv437954,essv479771,essv440989 M 185 0 4 Samples from several populations that are part of the HapMap project. CAMTA1 NA07346,NA11831,NA18522,NA18871 dgv7322e59 1 7162164 7165663 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36012,esv37414,esv35734 M 6 0 3 CAMTA1 NA19238,NA19239,NA19240 esv164802 1 7163691 7164028 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv550526,essv549345,essv550030,essv545403,essv545928,essv543608,essv547995,essv545085,essv546813,essv547812,essv549476 M 185 0 11 Samples from several populations that are part of the HapMap project. CAMTA1 NA11995,NA12891,NA18508,NA18511,NA18907,NA18909,NA18947,NA18951,NA19108,NA19147,NA19239 dgv7323e59 1 7163800 7164265 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39416,esv38926 M 6 0 3 CAMTA1 NA12878,NA12891,NA12892 esv2444029 1 7164106 7164254 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5208770 S 1 0 1 CAMTA1 NA18507 esv165235 1 7164203 7164311 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv550751,essv550000,essv545375,essv543174,essv543839 M 185 0 5 Samples from several populations that are part of the HapMap project. CAMTA1 NA11881,NA18501,NA18508,NA18861,NA18907 esv1124399 1 7174845 7175286 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044198 S 2 0 1 CAMTA1 HuRef nsv462394 1 7186325 7231484 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538567 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAMTA1 HGDP00797 esv160889 1 7205864 7210363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv482507,essv444416,essv468171,essv446040,essv482704 M 185 0 5 Samples from several populations that are part of the HapMap project. CAMTA1 NA11919,NA11994,NA18579,NA19098,NA19172 esv42378 1 7296654 7297131 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111435 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878 esv275496 1 7324468 7325408 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586154 S 1250 0 1 CAMTA1 esv40238 1 7367471 7367692 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111657 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878 nsv1410 1 7415626 7439988 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1411 S 9 1 0 CAMTA1 NA19240 esv43006 1 7427940 7428358 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123309 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878 esv163611 1 7433985 7434329 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528441,essv522064 M 185 0 2 Samples from several populations that are part of the HapMap project. CAMTA1 NA06986,NA11919 esv160445 1 7439564 7443763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv451107,essv487409,essv438062,essv460280,essv493821,essv487826,essv464763,essv435224,essv466244,essv473231,essv433963,essv451702,essv440395 M 185 0 13 Samples from several populations that are part of the HapMap project. CAMTA1 NA11832,NA11920,NA12003,NA12043,NA18517,NA18526,NA18561,NA18573,NA18582,NA18945,NA18960,NA19159,NA19240 esv160660 1 7457864 7458913 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv447709,essv480724,essv454769,essv437344,essv478832,essv438262,essv477929,essv494595,essv448937,essv436176,essv489664,essv478740,essv462706,essv431996,essv472086,essv476809,essv468559,essv463452,essv429538,essv442106,essv434388,essv444707,essv474629,essv448331,essv456480,essv443182,essv466568,essv446739,essv490352,essv443801,essv484996,essv438955,essv458175,essv482065,essv469389,essv467349,essv432195,essv453141,essv488994,essv466028,essv450660,essv469938,essv483358,essv431377,essv494128,essv477113,essv491661,essv450048,essv454155,essv433821,essv455941,essv493530,essv460585,essv487477 M 185 0 54 Samples from several populations that are part of the HapMap project. CAMTA1 NA11881,NA11993,NA11995,NA12004,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18609,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18961,NA18964,NA18967,NA18968,NA18971,NA18972,NA18974,NA18975,NA18976,NA18980,NA19005 nsv527338 1 7483046 7486317 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703764 S 2026 0 1 CAMTA1 esv274189 1 7486157 7486371 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580355 S 7 1 0 Samples from several populations that are part of the HapMap project. CAMTA1 NA12891 esv39207 1 7486187 7486308 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv120694 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA19238 dgv1529e59 1 7486216 7486282 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv162395,esv165098 M 185 0 6 CAMTA1 NA18498,NA18508,NA18871,NA19093,NA19108,NA19141 esv269095 1 7486224 7486491 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2530281,essv2520936,essv2556155,essv2529481,essv2538855,essv2571096,essv2569345 M 157 7 0 Samples from several populations that are part of the HapMap project. CAMTA1 NA18498,NA18508,NA18871,NA19093,NA19108,NA19141,NA19238 esv40306 1 7487217 7487421 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111924 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878 dgv1530e59 1 7487364 7492563 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160164,esv160334 M 185 0 38 CAMTA1 NA06994,NA07346,NA11832,NA11919,NA11992,NA11994,NA11995,NA12043,NA12155,NA12751,NA12763,NA12813,NA12828,NA12878,NA18520,NA18526,NA18542,NA18582,NA18592,NA18853,NA18943,NA18953,NA18973,NA18981,NA19098,NA19152,NA19153,NA19159,NA19200,NA19201,NA19204,NA19207,NA19225,NA19238 nsv831758 1 7491357 7671673 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442573,nssv1442562,nssv1442584,nssv1442551 M 95 1 3 CAMTA1 nsv522589 1 7507642 7519264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705976 S 2026 0 1 CAMTA1 nsv518903 1 7513025 7518698 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696361 S 2026 0 1 CAMTA1 esv164698 1 7517075 7517129 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv542218,essv542047,essv541978,essv546181 M 185 0 4 Samples from several populations that are part of the HapMap project. CAMTA1 NA12249,NA12828,NA18576,NA19114 esv160567 1 7538064 7542363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv449718,essv455544,essv494965,essv483305,essv436198,essv452237,essv487300,essv445515,essv437929,essv439313,essv430346,essv460981,essv491433,essv451729,essv469108,essv430237,essv470651,essv482468 M 185 0 18 Samples from several populations that are part of the HapMap project. CAMTA1 NA12155,NA12414,NA12813,NA18504,NA18522,NA18526,NA18592,NA18638,NA18853,NA18856,NA18858,NA18871,NA18943,NA18960,NA18961,NA18972,NA19160,NA19172 esv37343 1 7538664 7542163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115348 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA19240 esv160784 1 7539214 7541713 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491418,essv458884,essv485244,essv464619,essv471533,essv479821,essv461732,essv476061 M 185 0 8 Samples from several populations that are part of the HapMap project. CAMTA1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv41013 1 7540139 7540326 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110598 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA19240 esv160412 1 7546564 7550963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv460982,essv440461,essv430681,essv439005,essv461343,essv466465,essv465001,essv430038,essv447997,essv482456,essv463285,essv437633 M 185 0 12 Samples from several populations that are part of the HapMap project. CAMTA1 NA07347,NA11830,NA11832,NA12043,NA12249,NA12813,NA18504,NA18582,NA18909,NA18953,NA18967,NA19172 nsv526782 1 7547212 7549488 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703134 S 2026 0 1 CAMTA1 esv159567 1 7550964 7555563 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv482557,essv457156,essv437484,essv432365,essv456456,essv454021,essv442535,essv480519,essv439236,essv447817,essv459586,essv451468,essv451871,essv460186,essv440581,essv431260,essv489109,essv491969,essv472062,essv470703,essv487669,essv469558,essv444437 M 185 0 23 Samples from several populations that are part of the HapMap project. CAMTA1 NA07346,NA07347,NA12750,NA12763,NA12813,NA18499,NA18510,NA18520,NA18562,NA18564,NA18582,NA18592,NA18853,NA18953,NA18959,NA18961,NA18973,NA18976,NA19005,NA19098,NA19152,NA19172,NA19240 esv2647714 1 7552972 7553235 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5309036 S 1 0 1 CAMTA1 NA18507 esv1935214 1 7553390 7553700 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549214 S 1 0 1 CAMTA1 NA18507 dgv7324e59 1 7556464 7561763 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37268,esv36612,esv36815 M 6 0 3 CAMTA1 NA19238,NA19239,NA19240 nsv527595 1 7557152 7567412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704056 S 2026 0 1 CAMTA1 esv38838 1 7558686 7559644 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv117051,essv118238 M 6 0 2 Samples from several populations that are part of the HapMap project. CAMTA1 NA19238,NA19240 esv164189 1 7558963 7559059 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv548471 S 185 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA19102 esv42073 1 7558973 7559060 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv118868,essv119284 M 6 0 2 Samples from several populations that are part of the HapMap project. CAMTA1 NA19238,NA19239 esv38428 1 7558994 7559790 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122645 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA19239 esv38131 1 7559402 7559937 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122124 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA19240 esv159775 1 7564764 7569263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv489256,essv487740,essv446298,essv489994,essv485098,essv474907 M 185 0 6 Samples from several populations that are part of the HapMap project. CAMTA1 NA11995,NA12828,NA18517,NA18520,NA18523,NA18947 nsv826364 1 7566435 7567432 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421439 S 31 1 0 CAMTA1 NA18997 nsv7991 1 7568485 7571753 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26894 S 31 1 0 Samples from several populations that are part of the HapMap project. CAMTA1 NA18860 dgv7325e59 1 7568864 7572663 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35543,esv37223 M 6 0 3 CAMTA1 NA12878,NA12891 esv28432 1 7569215 7571521 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12117 S 451 28 1 CAMTA1 NA06985,NA11931,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820592 1 7569215 7571601 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420846 S 1 0 1 CAMTA1 NA10851 nsv826475 1 7569215 7571601 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422357,nssv1424725,nssv1421440,nssv1430329,nssv1428015,nssv1423943,nssv1425484,nssv1431057,nssv1438581,nssv1440113,nssv1427245,nssv1426370,nssv1431790 M 31 0 13 CAMTA1 AK10,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18552,NA18564,NA18582,NA18973,NA18997 dgv44e188 1 7569602 7571463 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1819561,esv1839870,esv1824122,esv1842352 M 6 0 4 CAMTA1 NA10851,NA18576 esv2592830 1 7569617 7572326 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5286155 S 1 0 1 CAMTA1 NA18507 nsv819302 1 7569818 7571415 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1419290 S 2 0 1 CAMTA1 AK1 esv2190574 1 7569911 7571692 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836092 S 1 0 1 CAMTA1 NA18507 esv3915 1 7570034 7571684 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26356 S 1 0 1 Single Asian sample YH CAMTA1 YH esv166091 1 7570072 7571526 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164121,esv161836,esv162758,esv161259,esv163673,esv162517 M 185 0 186 Samples from several populations that are part of the HapMap project. CAMTA1 NA06986,NA06994,NA07000,NA07346,NA10851,NA11829,NA11840,NA11894,NA11993,NA11995,NA12044,NA12155,NA12249,NA12414,NA12716,NA12750,NA12751,NA12761,NA12763,NA12776,NA12878,NA12891,NA18498,NA18507,NA18516,NA18545,NA18550,NA18552,NA18561,NA18564,NA18570,NA18571,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18608,NA18638,NA18940,NA18953,NA18961,NA18971,NA18973,NA18974,NA18976,NA19005,NA19119,NA19129,NA19171,NA19201,NA19204 esv43462 1 7570072 7571526 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38927,esv39202,esv37725 M 6 0 7 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878,NA12891,NA12892 esv7233 1 7570074 7571523 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29674 S 1 0 1 CAMTA1 SJK dgv45e188 1 7570076 7571463 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1824538,esv1838129,esv1796314,esv1839543,esv1795727,esv1796650,esv1840923,esv1794026,esv1819485,esv1800201,esv1821490,esv1816459,esv1840649,esv1838221,esv1834315 M 6 0 15 CAMTA1 NA10851,NA12239,NA18576 dgv10n67 1 7570223 7571392 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826586,nsv826697 M 31 2 0 CAMTA1 NA18968,NA18969 dgv46e188 1 7570338 7572262 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1803194,esv1793874 M 6 0 2 CAMTA1 NA12239 esv1793491 1 7570338 7575666 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4388643 S 6 0 1 CAMTA1 NA12239 nsv826808 1 7570563 7571143 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436326 S 31 1 0 CAMTA1 NA18542 dgv15e1 1 7571463 7688059 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1390,essv12439 M 271 0 0 CAMTA1 NA19152 esv23816 1 7577658 7579878 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15537 S 451 0 1 CAMTA1 NA18916 esv38393 1 7578417 7581426 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123030 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA19240 nsv512715 1 7580156 7580459 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625339 S 1 1 0 CAMTA1 1 esv163112 1 7608642 7609090 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv519228,essv520567,essv539554,essv534369,essv508042 M 185 0 5 Samples from several populations that are part of the HapMap project. CAMTA1 NA18537,NA18563,NA18566,NA18573,NA18944 esv993163 1 7608732 7608958 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3579404 S 3 0 1 CAMTA1 HuRef esv1611358 1 7608740 7608967 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860626 S 2 0 1 CAMTA1 HuRef esv37895 1 7608797 7609231 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121597 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA12892 dgv7326e59 1 7626564 7631163 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35306,esv36999,esv37668 M 6 0 3 CAMTA1 NA19238,NA19239,NA19240 esv161031 1 7626914 7629713 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464862,essv461832,essv485797,essv458716,essv479833,essv492591,essv475443,essv470971 M 185 0 8 Samples from several populations that are part of the HapMap project. CAMTA1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160661 1 7627914 7630713 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484419,essv471408,essv479920,essv458455,essv462047,essv464978,essv491847,essv475685 M 185 0 8 Samples from several populations that are part of the HapMap project. CAMTA1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv520077 1 7637979 7644802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697212 S 2026 0 1 CAMTA1 esv166179 1 7645755 7648432 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163646,esv162394 M 185 0 2 Samples from several populations that are part of the HapMap project. CAMTA1 NA19093 esv161317 1 7660614 7663313 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464756,essv485310,essv492209,essv480023,essv459005,essv471901,essv461476,essv476474 M 185 0 8 Samples from several populations that are part of the HapMap project. CAMTA1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161120 1 7665164 7669463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv455107,essv472218,essv449237,essv447776,essv484140,essv461004,essv457730,essv438935,essv443345,essv450430,essv452313,essv442308,essv457102,essv452763,essv468572,essv449441,essv463204,essv474946,essv438150 M 185 0 19 Samples from several populations that are part of the HapMap project. CAMTA1 NA06994,NA10847,NA11992,NA12004,NA12044,NA12813,NA18504,NA18947,NA18967,NA18971,NA18973,NA18975,NA18976,NA19005,NA19119,NA19138,NA19159,NA19160,NA19201 esv162762 1 7685817 7686132 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv529246,essv514839 M 185 0 2 Samples from several populations that are part of the HapMap project. CAMTA1 NA18501,NA19147 esv163366 1 7702864 7703431 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv512373,essv498714 M 185 0 2 Samples from several populations that are part of the HapMap project. CAMTA1 NA19099,NA19238 esv43520 1 7703010 7703270 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39959,esv42118,esv38354,esv38695 M 6 0 7 Samples from several populations that are part of the HapMap project. CAMTA1 NA19238,NA19240 esv42870 1 7706262 7706498 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123251 S 6 0 1 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878 esv160470 1 7712664 7717863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv437583,essv440352,essv437784,essv489182,essv482597 M 185 0 5 Samples from several populations that are part of the HapMap project. CAMTA1 NA18520,NA18871,NA18953,NA18981,NA19172 dgv7327e59 1 7713464 7716963 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37580,esv35253 M 6 0 2 CAMTA1 NA19239,NA19240 esv1977744 1 7715032 7715386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674847 S 1 0 1 CAMTA1 NA18507 esv8105 1 7715050 7715285 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30546 S 1 0 1 CAMTA1 SJK esv39254 1 7715052 7715347 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv118236,essv117366,essv117932,essv117122,essv116634 M 6 0 5 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878,NA12891,NA19238,NA19239,NA19240 esv43488 1 7715094 7715640 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38720 S 6 0 2 Samples from several populations that are part of the HapMap project. CAMTA1 NA19238,NA19240 esv161359 1 7722414 7725213 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv470974,essv461863,essv479970,essv465218,essv484999,essv458873,essv492786,essv475342 M 185 0 8 Samples from several populations that are part of the HapMap project. CAMTA1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv1531e59 1 7762889 7766513 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv166458,esv160246,esv161141 M 185 0 64 CAMTA1 NA06994,NA07346,NA11830,NA11832,NA11995,NA12004,NA12006,NA12044,NA12144,NA12287,NA12717,NA12749,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18592,NA18609,NA18940,NA18942,NA18943,NA18945,NA18948,NA18949,NA18959,NA18961,NA18964,NA18967,NA18968,NA18971,NA18972,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005,NA19257 esv28595 1 7763029 7765558 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13845 S 451 1 0 CAMTA1 NA06985 esv36378 1 7763314 7766088 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116406,essv114044,essv113401 M 6 0 3 Samples from several populations that are part of the HapMap project. CAMTA1 NA12878,NA19238,NA19239 esv35594 1 7830664 7832763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114314 S 6 0 1 Samples from several populations that are part of the HapMap project. VAMP3 NA12878 esv160558 1 7842589 7845338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458908,essv476285,essv479780,essv484509,essv464275,essv471623,essv461451,essv491462 M 185 0 8 Samples from several populations that are part of the HapMap project. PER3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35547 1 7842764 7845663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116228,essv115696,essv114244 M 6 0 3 Samples from several populations that are part of the HapMap project. PER3 NA12878,NA19239,NA19240 esv160806 1 7843389 7846238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv459349,essv465224,essv480189,essv484577,essv471813,essv461151,essv476153,essv492609 M 185 0 8 Samples from several populations that are part of the HapMap project. PER3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv161033 1 7856397 7864940 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179611 M 24 PER3 esv42045 1 7889952 7890115 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111661 S 6 0 1 Samples from several populations that are part of the HapMap project. PER3 NA12878 esv991458 1 7889987 7890040 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3570335 S 3 0 1 PER3 HuRef dgv7328e59 1 7916568 7916709 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv41115,esv41572,esv42044,esv42792 M 6 0 4 "" NA12878,NA19240 esv42754 1 7916626 7916727 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123157 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv1585189 1 7923049 7923109 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804508 S 2 0 1 "" HuRef esv161145 1 7923064 7927263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458955,essv471963,essv488518,essv452560,essv450937,essv485611,essv468374,essv431129,essv467683,essv437244,essv441196,essv453251,essv490501,essv446037,essv434827,essv492903,essv438613,essv487290,essv442449,essv494069,essv442804,essv452092,essv464749,essv436117,essv447396,essv439599,essv483239,essv445205,essv482663,essv465504,essv441860,essv473307,essv433195,essv474710,essv486762,essv430380,essv473738,essv488116,essv466297,essv475324,essv457688,essv451337,essv461012,essv445038,essv467111,essv432691,essv449313,essv463578,essv481395,essv479795,essv472853,essv478379,essv454085,essv439977,essv469566,essv468982,essv449078,essv477243,essv489819,essv465693,essv474026,essv449620,essv449950,essv440394,essv429051,essv478987,essv473523,essv492632,essv455943,essv464068,essv432034,essv445476 M 185 0 72 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA10847,NA11831,NA11832,NA11894,NA11919,NA11920,NA11931,NA11994,NA11995,NA12004,NA12043,NA12144,NA12154,NA12156,NA12414,NA12489,NA12716,NA12749,NA12750,NA12751,NA12776,NA18502,NA18504,NA18526,NA18542,NA18545,NA18547,NA18550,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18858,NA18942,NA18943,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18959,NA18961,NA18964,NA18965,NA18971,NA18972,NA18974,NA18975,NA18976,NA18981,NA19005,NA19129,NA19171,NA19238 esv162881 1 7924835 7925672 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv533133,essv528035 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA18576,NA18638 dgv47e188 1 7924932 7926481 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1809757,esv1845029 M 6 0 2 "" NA18517,NA18980 esv5046 1 7924934 7925672 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27487 S 1 0 1 Single Asian sample YH "" YH nsv160721 1 7924937 7925384 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179299 M 24 "" esv29691 1 7924952 7925557 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10705 S 451 0 4 "" NA12004,NA12749,NA18502,NA18858 nsv821110 1 7924952 7925557 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420957 S 1 0 1 "" NA10851 esv9095 1 7924955 7925585 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31536 S 1 0 1 "" SJK esv40482 1 7925764 7926041 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111178 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv35280 1 7962389 7964463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114531,essv113404,essv113600,essv115249 M 6 0 4 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv159943 1 7962814 7964163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv436332,essv477203,essv448762,essv470220,essv431528,essv437118,essv460718,essv441923,essv489000,essv457474,essv494071,essv490290,essv469182,essv476836,essv442161,essv465633,essv463707,essv489668,essv439377,essv463435,essv467239,essv485534,essv483760,essv446752,essv495539,essv444739,essv466334,essv477555,essv444226,essv434729,essv458013,essv443511,essv456460,essv482373,essv433226,essv483405,essv492816,essv449994,essv433901,essv439944,essv454739,essv474925,essv456042,essv453061,essv429569,essv487147,essv478792,essv438714,essv494423,essv480920,essv462888,essv435889 M 185 0 52 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18563,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18961,NA18964,NA18967,NA18972,NA18973,NA18974,NA18981,NA19005 esv165766 1 7962937 7963459 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161952,esv163746 M 185 0 63 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA11829,NA11881,NA11894,NA11919,NA11920,NA11995,NA12287,NA12716,NA12750,NA12761,NA12878,NA18501,NA18519,NA18526,NA18545,NA18547,NA18552,NA18564,NA18576,NA18577,NA18593,NA18603,NA18609,NA18638,NA18853,NA18951,NA18956,NA18960,NA18964,NA19138,NA19238,NA19240 esv38082 1 7963009 7963498 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv117284,essv116892,essv118567 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv40477 1 7964310 7964587 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111352 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv259866 1 7973096 7973642 OTHER Complex Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv2398355 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA19093 nsv1521 1 8014239 8047493 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2406 S 9 1 0 PARK7 NA18555 esv161118 1 8048164 8052463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv470287,essv488368,essv449526,essv472209,essv444563,essv473925,essv483488,essv489176 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA18520,NA18537,NA18605,NA18972,NA18976,NA19098,NA19138,NA19204 esv37887 1 8050354 8050552 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122517 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv2403277 1 8050410 8050769 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650492 S 1 0 1 "" NA18507 esv166107 1 8050522 8050671 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162066 S 185 0 5 Samples from several populations that are part of the HapMap project. "" NA11830,NA12154,NA12750,NA12761,NA12763 esv1800260 1 8053732 8067990 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array essv4426761 S 6 0 1 "" NA12239 esv161471 1 8085189 8087738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491502,essv476082,essv485571,essv470832,essv465199,essv461610,essv479561,essv459165 M 185 0 8 Samples from several populations that are part of the HapMap project. ERRFI1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv6796 1 8086953 8087016 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29237 S 1 1 0 "" SJK nsv528132 1 8145294 8147157 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704677 S 2026 0 1 "" esv40548 1 8149341 8149505 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112173 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv40616 1 8149714 8150198 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112836 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv25059 1 8182444 8191375 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14504 S 451 0 2 "" NA07045,NA19108 esv2421513 1 8182462 8189854 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5120988,essv5159857,essv5071617,essv5141409,essv5142988,essv5115860,essv5088579,essv5015810,essv5038470,essv5120024,essv5028046,essv5014120,essv5146224,essv5143136,essv5031289,essv5060745,essv5073414,essv5003208,essv5075870,essv5009796,essv5005423,essv5016176,essv5022989,essv5012227,essv5022164,essv5147348,essv5080397,essv5114664,essv5132727,essv5154659,essv5037691,essv5142796,essv5107816,essv5053091,essv5053733,essv5078502,essv5113994,essv5019834,essv5021464 M 1184 0 39 "" NA06997,NA07045,NA18933,NA19035,NA19107,NA19108,NA19109,NA19127,NA19153,NA19154,NA19204,NA19207,NA19213,NA19215,NA19313,NA19318,NA19321,NA19352,NA19373,NA19374,NA19403,NA19437,NA19471,NA19472,NA19664,NA19701,NA19702,NA19704,NA19915,NA20288,NA20297,NA20343,NA20347,NA20363,NA21295,NA21317,NA21424,NA21580,NA21596 esv1797898 1 8182584 8189285 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array essv4379863 S 6 1 0 "" NA12239 nsv442907 1 8182584 8189285 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv48e188 1 8200690 8218817 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1797203,esv1792248,esv1795684 M 6 3 0 "" NA12239 nsv831870 1 8203407 8354157 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442641,nssv1442617,nssv1442630,nssv1442652,nssv1442595,nssv1442606 M 95 0 6 "" esv22301 1 8204084 8211127 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10444 S 451 3 0 "" NA11931,NA12004,NA12239 dgv49e188 1 8204719 8211074 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1800717,esv1802228,esv1796112,esv1796442,esv1803320,esv1801620 M 6 6 0 "" NA12239 dgv50e188 1 8206130 8209321 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1796939,esv1794074,esv1800489 M 6 3 0 "" NA12239 nsv441679 1 8206130 8209321 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv51e188 1 8208229 8211074 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1799749,esv1792105,esv1796829 M 6 3 0 "" NA12239 esv23800 1 8216828 8240818 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15760 S 451 1 0 "" NA12156 esv165332 1 8217913 8217969 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv550411,essv542678,essv547480,essv547856 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA11992,NA12005,NA18486,NA19172 nsv1632 1 8238409 8283574 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7290 S 9 0 1 "" NA12156 esv41005 1 8241137 8241580 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110995 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv166594 1 8247596 8250225 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164114 S 185 0 3 Samples from several populations that are part of the HapMap project. "" NA18505,NA19152,NA19209 esv40709 1 8267232 8267936 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112176 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv166212 1 8286693 8286752 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164683 S 185 0 1 Samples from several populations that are part of the HapMap project. "" NA12716 esv42040 1 8325378 8325893 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112455 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160963 1 8334964 8339263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv456253,essv468734,essv495018,essv489205,essv446175,essv480651,essv436517,essv459989,essv452023,essv439293,essv466828,essv451588,essv478180,essv474631,essv487550,essv444537,essv491774,essv472004,essv452670,essv437589 M 185 0 20 Samples from several populations that are part of the HapMap project. "" NA11994,NA12489,NA12763,NA12813,NA12878,NA18489,NA18520,NA18522,NA18532,NA18558,NA18609,NA18947,NA18953,NA18960,NA18961,NA18971,NA18976,NA19098,NA19119,NA19152 esv1547514 1 8336937 8336937 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685454 S 2 1 0 "" HuRef esv159858 1 8377189 8379738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458430,essv461409,essv491241,essv464580,essv471147,essv484727,essv480243,essv476230 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv1743 1 8377753 8411716 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3033 S 9 1 0 SLC45A1 NA18555 nsv512716 1 8381685 8382557 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625340 S 1 1 0 "" 1 esv2601359 1 8381817 8382614 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5225689 S 1 1 0 "" NA18507 nsv516827 1 8390888 8423510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657128,nssv685632,nssv671511,nssv654276,nssv693483,nssv656941,nssv693424,nssv684816,nssv679037 M 2026 0 9 RERE,SLC45A1 esv1250756 1 8391507 8391507 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006791 S 2 1 0 SLC45A1 HuRef esv161894 1 8399400 8399702 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv515874,essv503449 M 185 0 2 Samples from several populations that are part of the HapMap project. SLC45A1 NA18508,NA19257 esv43711 1 8402866 8595069 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38223 S 6 0 2 Samples from several populations that are part of the HapMap project. RERE,SLC45A1 NA12878,NA12891 esv41288 1 8403095 8403366 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111411 S 6 0 1 Samples from several populations that are part of the HapMap project. SLC45A1 NA12878 esv2624373 1 8404405 8405339 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5304328 S 1 1 0 "" NA18507 esv1162151 1 8404955 8404955 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276612 S 2 1 0 "" HuRef esv1816539 1 8405694 8424659 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4423300 S 6 1 0 RERE NA18576 nsv819494 1 8416148 8421431 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1419699 S 2 1 0 RERE AK1 esv160835 1 8419389 8421938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471534,essv492507,essv461960,essv484435,essv458518,essv464287,essv480193,essv476283 M 185 0 8 Samples from several populations that are part of the HapMap project. RERE NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv990980 1 8435579 8435579 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3583268 S 3 1 0 RERE HuRef esv162959 1 8446308 8448665 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv568449 S 185 0 1 Samples from several populations that are part of the HapMap project. RERE NA10851 esv164430 1 8446594 8446660 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv428813,essv428817,essv428730,essv428554,essv428985,essv428570,essv428928,essv428472,essv428470,essv428806,essv428868,essv428376,essv428573 M 185 0 13 Samples from several populations that are part of the HapMap project. RERE NA11931,NA12249,NA12287,NA12812,NA12814,NA12874,NA18970,NA19141,NA19143 esv273761 1 8446601 8446844 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580120,essv2580327,essv2580011 M 7 3 0 Samples from several populations that are part of the HapMap project. RERE NA12878,NA12891,NA12892 esv271602 1 8446609 8446931 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2555233,essv2558314,essv2577789,essv2531483,essv2561114,essv2571869,essv2522407,essv2563419,essv2520382,essv2573625,essv2552441,essv2535079,essv2553211,essv2533916,essv2578320,essv2542233,essv2527484,essv2545712,essv2526576,essv2540499,essv2534254,essv2524665,essv2572262,essv2546789,essv2543852,essv2565105,essv2540935,essv2577151,essv2538134,essv2544714,essv2548777,essv2526156,essv2521655,essv2561751,essv2570173,essv2563632,essv2531190,essv2564173,essv2530134,essv2544263,essv2549548,essv2533443,essv2574134,essv2556244,essv2576429,essv2560042,essv2542755,essv2523502,essv2533079,essv2521100,essv2567034,essv2559401,essv2525399,essv2535758,essv2522133,essv2565498,essv2551882,essv2575808,essv2562817,essv2573839,essv2554940,essv2541339,essv2552139,essv2567633,essv2532047,essv2553993,essv2538711,essv2541643,essv2522919,essv2519703,essv2550751,essv2573241,essv2547550,essv2539619,essv2567950,essv2536780,essv2570907,essv2534818,essv2556615,essv2571113,essv2555796,essv2558165,essv2528159,essv2543245,essv2536145,essv2572725,essv2524052,essv2555488,essv2551034,essv2532915,essv2530273,essv2527007,essv2566227,essv2565689,essv2528914,essv2525155,essv2531804,essv2559488,essv2538216 M 157 99 0 Samples from several populations that are part of the HapMap project. RERE NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA12006,NA12144,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12776,NA12812,NA12814,NA12828,NA12872,NA12874,NA12892,NA18502,NA18504,NA18505,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18871,NA18907,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19108,NA19114,NA19129,NA19141,NA19143,NA19238,NA19239,NA19240 nsv524946 1 8455712 8472164 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700963 S 2026 0 1 RERE esv164460 1 8493903 8501996 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv548124,essv542469,essv543278 M 185 0 3 Samples from several populations that are part of the HapMap project. RERE NA06986,NA18964,NA18965 esv164748 1 8501958 8502024 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv428962,essv428798,essv428759,essv428914 M 185 0 4 Samples from several populations that are part of the HapMap project. RERE NA11931,NA12045,NA12287,NA12814 esv270262 1 8501969 8502320 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516472,essv2519296,essv2518736,essv2517053,essv2514425,essv2518542 M 157 6 0 Samples from several populations that are part of the HapMap project. RERE NA11894,NA11931,NA12045,NA12287,NA12814,NA12874 esv268185 1 8528279 8528364 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516985 S 157 1 0 Samples from several populations that are part of the HapMap project. RERE NA11931 esv164797 1 8528283 8528349 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv428822 S 185 0 1 Samples from several populations that are part of the HapMap project. RERE NA11931 esv166310 1 8550247 8551326 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163042 S 185 0 15 Samples from several populations that are part of the HapMap project. RERE NA11931,NA18508,NA18517,NA18593,NA18856,NA18858,NA18870,NA19093,NA19129,NA19147,NA19153,NA19190,NA19204,NA19210,NA19257 esv1805052 1 8550432 8554471 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4418628 S 6 0 1 RERE NA18517 esv25533 1 8550458 8551722 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11693,esv13828 M 451 0 4 RERE NA18517,NA18858,NA19129,NA19190 esv161432 1 8561189 8563738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458457,essv464712,essv492662,essv479339,essv475558,essv485872,essv471198,essv461459 M 185 0 8 Samples from several populations that are part of the HapMap project. RERE NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv42861 1 8569412 8569513 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv122864 S 6 0 1 Samples from several populations that are part of the HapMap project. RERE NA19240 nsv159615 1 8577616 8581235 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178193 M 24 RERE esv160031 1 8611064 8615363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv473457,essv487673,essv437512,essv482814,essv442873,essv490163,essv463203,essv492934,essv495353,essv435225,essv441247,essv444783,essv473047,essv430379,essv468179,essv456679,essv447448,essv492117,essv439800,essv451662,essv472359 M 185 0 21 Samples from several populations that are part of the HapMap project. RERE NA11919,NA11920,NA11931,NA12003,NA12006,NA12045,NA12414,NA12751,NA12763,NA12828,NA18579,NA18603,NA18608,NA18953,NA18960,NA18961,NA18967,NA18975,NA18976,NA18981,NA19152 esv40547 1 8661625 8661865 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111130 S 6 0 1 Samples from several populations that are part of the HapMap project. RERE NA12878 dgv52e188 1 8669822 8686321 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1816343,esv1801120,esv1824946 M 6 0 3 RERE NA12239,NA18576 dgv53e188 1 8670704 8684898 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1847616,esv1806404,esv1847988,esv1824579,esv1850922 M 6 0 5 RERE NA18517,NA18576,NA18980 nsv826919 1 8671390 8673970 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423363 S 31 1 0 RERE NA18968 esv26500 1 8671618 8685734 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13894,esv17365,esv15623,esv10195 M 451 3 28 RERE NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19129,NA19147,NA19225,NA19240 dgv54e188 1 8672121 8718665 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1829448,esv1829232 M 6 2 0 RERE NA15510 dgv55e188 1 8673570 8733595 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1800609,esv1794982 M 6 0 2 RERE NA12239 dgv56e188 1 8674365 8676582 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1838911,esv1839591,esv1839672,esv1839519 M 6 4 0 RERE NA10851 nsv827030 1 8674560 8685010 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435647 S 31 0 1 RERE NA18566 esv2407042 1 8705946 8706370 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792099 S 1 0 1 RERE NA18507 esv42640 1 8711687 8712271 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111621 S 6 0 1 Samples from several populations that are part of the HapMap project. RERE NA12878 esv27511 1 8715188 8720239 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17675 S 451 2 0 RERE NA15510,NA18861 nsv827141 1 8715751 8719780 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423374 S 31 1 0 RERE NA18968 esv2384996 1 8728829 8729270 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771378 S 1 0 1 RERE NA18507 esv42481 1 8728941 8729134 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110743 S 6 0 1 Samples from several populations that are part of the HapMap project. RERE NA19240 nsv483143 1 8746272 8890240 CNV Gain Iafrate et al 2004 15286789 BAC_aCGH,FISH Spectral Genomics 2600 BAC array nssv650735 M 0 1 Twenty samples were obtained from normal individuals whose DNA are stored at the Coriell Cell Repository (Camden, New Jersey) with the following ethnic representation: 10 European/Caucasian, 4 Native American, 2 Chinese, 2 Indo-Pakistani, and 2 Sub-Saharan African. Twelve samples were from fixed cell pellets of cytogenetically normal individuals from the Brigham and Women's Cytogenetics Laboratory and 7 samples from cytogenetically normal individuals were obtained from the Hospital for Sick Children. RERE esv25426 1 8766443 8774912 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17965 S 451 0 1 RERE NA18508 esv1802506 1 8804237 8812660 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array essv4425994 S 6 0 1 RERE NA12239 nsv1854 1 8826155 8859690 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7349 S 9 1 0 RERE NA12156 dgv16e1 1 8888241 8916640 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv482,essv9828 M 271 0 0 "" NA18863 esv39504 1 8981141 8987473 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121432 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12891 nsv527110 1 8991141 8991873 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703492 S 2026 0 1 "" nsv1965 1 9003738 9007657 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3239 S 9 1 0 CA6 NA12878 nsv516097 1 9009406 9011722 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660728,nssv660321,nssv671439,nssv671111,nssv692368,nssv671923,nssv666175,nssv660579,nssv669183 M 2026 0 9 CA6 esv160089 1 9026264 9030663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv463570,essv449514,essv490958,essv435639,essv467275,essv489175,essv483006,essv454640,essv455241,essv471208,essv433202,essv493927,essv439504,essv448687,essv445759,essv433640,essv456078,essv467090,essv447053,essv475529,essv487569,essv441362,essv447434,essv452273,essv452081,essv440686,essv446429,essv451957,essv481242,essv433393,essv466785,essv449248,essv441104,essv444886,essv468244,essv493360,essv472245,essv452700,essv477097,essv454966,essv469640,essv489688,essv453801,essv430635,essv494504,essv484014,essv453350,essv442629,essv488308 M 185 0 49 Samples from several populations that are part of the HapMap project. CA6 NA06994,NA07357,NA10847,NA11831,NA11894,NA11919,NA12045,NA12154,NA12287,NA12489,NA12716,NA12717,NA12751,NA12813,NA18489,NA18499,NA18505,NA18507,NA18520,NA18545,NA18552,NA18570,NA18571,NA18861,NA18907,NA18912,NA18945,NA18949,NA18952,NA18956,NA18964,NA18968,NA18974,NA18975,NA18976,NA19102,NA19119,NA19131,NA19138,NA19152,NA19153,NA19160,NA19200,NA19201,NA19204,NA19207,NA19209,NA19239,NA19257 nsv526389 1 9039022 9049872 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702688 S 2026 0 1 "" esv38019 1 9054615 9082325 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121324,essv121796 M 6 0 2 Samples from several populations that are part of the HapMap project. SLC2A7 NA12891,NA12892 nsv462616 1 9058546 9080966 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538732 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC2A7 HGDP00806 nsv525092 1 9058546 9080966 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701151 S 2026 1 0 SLC2A7 nsv462727 1 9080411 9133056 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538823 S 1557 0 1 SLC2A5,SLC2A7 1780854205_A nsv831981 1 9091717 9247567 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442663 S 95 0 1 GPR157,MIR34A,SLC2A5 esv38101 1 9105241 10082223 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121663,essv121340 M 6 0 2 Samples from several populations that are part of the HapMap project. C1orf200,CLSTN1,CTNNBIP1,GPR157,H6PD,LZIC,MIR34A,NMNAT1,PIK3CD,RBP7,SLC25A33,SLC2A5,SPSB1,TMEM201 NA12891,NA12892 esv36144 1 9112314 9114613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114076,essv113712,essv115248 M 6 0 3 Samples from several populations that are part of the HapMap project. SLC2A5 NA12878,NA12891,NA12892 esv1504235 1 9113520 9113520 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665009 S 2 1 0 SLC2A5 HuRef esv1740239 1 9113555 9113555 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265262 S 2 1 0 SLC2A5 HuRef esv161002 1 9118064 9122263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv467120,essv452269,essv445533,essv482616,essv463365,essv442747,essv430848,essv432150,essv447403,essv452606,essv452374,essv451695,essv474272,essv437804,essv465011,essv456876,essv466750,essv438997,essv441348,essv484286,essv479424,essv473136,essv444555,essv483361,essv491778,essv472053,essv487384,essv436518 M 185 0 28 Samples from several populations that are part of the HapMap project. SLC2A5 NA06994,NA07051,NA07346,NA11832,NA11920,NA12045,NA12716,NA12763,NA12813,NA18489,NA18526,NA18532,NA18562,NA18564,NA18603,NA18605,NA18638,NA18871,NA18960,NA18961,NA18967,NA18972,NA18975,NA18976,NA19098,NA19119,NA19160,NA19172 nsv512717 1 9120955 9121796 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625341 S 1 1 0 SLC2A5 1 dgv1532e59 1 9123719 9124058 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv166277,esv165356 M 185 0 65 SLC2A5 NA07357,NA11829,NA11894,NA11993,NA12004,NA12154,NA12287,NA12761,NA12813,NA12892,NA18489,NA18501,NA18507,NA18511,NA18517,NA18532,NA18547,NA18870,NA18907,NA18912,NA18943,NA18951,NA18953,NA18956,NA18967,NA18968,NA18971,NA18973,NA18974,NA19099,NA19102,NA19119,NA19129,NA19144,NA19147,NA19159,NA19160,NA19171,NA19190,NA19207,NA19209,NA19210 esv41451 1 9151545 9152130 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112628 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2422210 1 9166576 9274632 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161558 S 181 1 0 GPR157,MIR34A ND01701 esv40466 1 9174874 9369904 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112627 S 6 0 1 Samples from several populations that are part of the HapMap project. GPR157,H6PD,MIR34A,SPSB1 NA12878 esv36788 1 9175464 9177463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113909 S 6 0 1 Samples from several populations that are part of the HapMap project. GPR157 NA12878 esv159753 1 9175964 9177063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476839,essv465658,essv450672,essv479104,essv469536,essv448782,essv436615,essv457083,essv491991,essv489605,essv467315,essv431526,essv442544,essv493194,essv477763,essv454481,essv475089,essv448448,essv488650,essv470184,essv436250,essv456568,essv466507,essv445184,essv434505,essv446966,essv484796,essv457687,essv444096,essv443096,essv439131,essv481918,essv495257,essv490285,essv473890,essv472577,essv441866,essv462971,essv460286,essv494407,essv431335,essv432489,essv472165,essv455827,essv432831,essv447279,essv453406,essv494013,essv481103,essv450008,essv478278,essv429270,essv436943,essv477163,essv468837,essv454035,essv462702,essv486883,essv440276,essv484282,essv486365,essv433862,essv438315 M 185 0 63 Samples from several populations that are part of the HapMap project. GPR157 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv1519481 1 9176244 9176244 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133256 S 2 1 0 GPR157 HuRef esv36239 1 9182664 9184913 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114459,essv116460 M 6 0 2 Samples from several populations that are part of the HapMap project. GPR157 NA12878,NA19239 esv161162 1 9182964 9184763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv478871,essv492586,essv463111,essv488986,essv444246,essv436345,essv483653,essv495467,essv431681,essv432200,essv453088,essv433378,essv480962,essv454501,essv448695,essv448439,essv487128,essv475060,essv440008,essv467624,essv443432,essv489552,essv494843,essv457463,essv486484,essv438990,essv456645,essv466670,essv434766,essv490691,essv477745,essv484243,essv482188,essv446599,essv485644,essv447202,essv450626,essv468427,essv477537,essv434146,essv470416,essv494047,essv469224,essv472980,essv441616,essv493070,essv473844,essv456123,essv478202,essv460401,essv437075,essv429127,essv476585,essv465705,essv442214,essv444620,essv454112,essv438795,essv462439,essv435798,essv450107 M 185 0 61 Samples from several populations that are part of the HapMap project. GPR157 NA06994,NA11881,NA11993,NA11995,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18980,NA18981,NA19005 esv162956 1 9183183 9183522 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv535607,essv528456 M 185 0 2 Samples from several populations that are part of the HapMap project. GPR157 NA11919,NA11992 nsv832092 1 9186568 9364602 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442674 S 95 0 1 GPR157,H6PD,MIR34A,SPSB1 esv160793 1 9188189 9190738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461532,essv492264,essv459151,essv471800,essv480143,essv485274,essv465432,essv475586 M 185 0 8 Samples from several populations that are part of the HapMap project. GPR157 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35985 1 9188364 9190613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113685,essv115823 M 6 0 2 Samples from several populations that are part of the HapMap project. GPR157 NA12891,NA19239 esv159700 1 9188914 9190063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv477349,essv454832,essv494471,essv479266,essv491427,essv448027,essv469147,essv463516,essv493779,essv487227,essv436898,essv429159,essv477056,essv440172,essv438947,essv431864,essv434156,essv449778,essv463760,essv472689,essv474585,essv443391,essv481196,essv490635,essv457296,essv444997,essv436213,essv462418,essv453264,essv447520,essv444166,essv478084,essv456652,essv484288,essv457835,essv485183,essv434709,essv467292,essv486298,essv438551,essv456162,essv460685,essv436259,essv493330,essv432448,essv453940,essv448688,essv469876,essv474170,essv472376,essv430854,essv465898,essv442177,essv468879,essv488696,essv478474,essv450698,essv483394,essv466567,essv489782,essv446907 M 185 0 61 Samples from several populations that are part of the HapMap project. GPR157 NA06994,NA11881,NA11995,NA12004,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv42072 1 9222694 9222874 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111997 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv38352 1 9230131 9231037 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123111 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv7329e59 1 9285514 9289163 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36646,esv37434 M 6 0 3 "" NA19239,NA19240 dgv7330e59 1 9286471 9288219 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37790,esv41279 M 6 0 3 "" NA19239,NA19240 dgv2e55 1 9315847 9404693 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750846,esv2750843,esv2750844 M 771 3 0 H6PD,SPSB1 BEC_287,BEC_670,SPC_192 dgv7331e59 1 9316964 9322063 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36840,esv36312,esv36686 M 6 0 3 H6PD NA19238,NA19239,NA19240 esv23318 1 9317806 9321226 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16429 S 451 0 1 H6PD NA12749 dgv3n27 1 9318401 9412408 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463172,nsv462950,nsv463061,nsv463950,nsv462839 M 1557 5 0 H6PD,SPSB1 1780854392_A,1780854556_A,1780862066_A,1780862577_A,HGDP00136 nsv520191 1 9321241 9396660 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661584,nssv688630,nssv696393,nssv687341,nssv662674 M 2026 5 0 H6PD,SPSB1 esv2750845 1 9327413 9389218 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980777,essv6985406 M 771 1 0 H6PD,SPSB1 BEC_149 esv160589 1 9351789 9354338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491705,essv476195,essv484772,essv461160,essv479904,essv464526,essv471758,essv459425 M 185 0 8 Samples from several populations that are part of the HapMap project. SPSB1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35652 1 9352114 9354563 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114318 S 6 0 1 Samples from several populations that are part of the HapMap project. SPSB1 NA12878 esv2201511 1 9369979 9370402 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737746 S 1 0 1 SPSB1 NA18507 esv1000068 1 9370131 9370131 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3571220 S 3 1 0 SPSB1 HuRef nsv464172 1 9377864 9413646 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540129 S 1557 0 1 SPSB1 1780854065_A esv40770 1 9386604 9387111 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112846 S 6 0 1 Samples from several populations that are part of the HapMap project. SPSB1 NA12878 nsv827253 1 9431355 9432029 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431791 S 31 0 1 "" AK20 esv2616653 1 9439330 9441001 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5231075 S 1 0 1 "" NA18507 dgv1533e59 1 9439858 9440521 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv163069,esv162215 M 185 0 8 "" NA18504,NA18871,NA19099,NA19239,NA19240 dgv7332e59 1 9439867 9440539 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43344,esv39217,esv39315 M 6 0 5 "" NA19239,NA19240 esv2203424 1 9439900 9440552 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643328 S 1 0 1 "" NA18507 esv41563 1 9440030 9440412 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv118859,essv119132 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv2443842 1 9470413 9471232 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5170213 S 1 1 0 "" NA18507 esv37991 1 9470952 9473170 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123040 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv160182 1 9511464 9515763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv437560,essv483299,essv442838,essv482643,essv482940,essv456707,essv449152,essv446549,essv444816,essv460886,essv489208,essv439543 M 185 0 12 Samples from several populations that are part of the HapMap project. "" NA10847,NA12717,NA12751,NA12763,NA18504,NA18520,NA18603,NA18953,NA18972,NA19171,NA19172,NA19200 nsv517755 1 9514846 9539693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653129,nssv693425,nssv692200,nssv670279,nssv661666,nssv674995,nssv658552 M 2026 0 7 "" dgv7333e59 1 9535764 9539563 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36853,esv37289,esv35632 M 6 0 3 "" NA19238,NA19239,NA19240 esv41868 1 9553058 9553556 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112524 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv35181 1 9566734 9590683 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv121032 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv2476310 1 9593578 9600139 CNV Loss McKernan_et_al_2009 19546169 Sequencing Not specified essv5297378 S 1 0 1 SLC25A33 NA18507 esv43174 1 9594714 9598713 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv35894,esv35525 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239 esv2577357 1 9594904 9598296 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5368321 S 1 0 1 "" NA18507 esv166576 1 9595613 9597666 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160521,esv162002,esv163235 M 185 0 124 Samples from several populations that are part of the HapMap project. "" NA06994,NA07051,NA11919,NA11992,NA12004,NA12006,NA12044,NA12156,NA12249,NA12761,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18505,NA18507,NA18508,NA18511,NA18517,NA18519,NA18520,NA18522,NA18526,NA18537,NA18542,NA18545,NA18564,NA18570,NA18571,NA18577,NA18579,NA18582,NA18603,NA18638,NA18858,NA18907,NA18909,NA18916,NA18940,NA18944,NA18945,NA18949,NA18952,NA18956,NA18961,NA18968,NA18971,NA18973,NA18974,NA18975,NA18980,NA18981,NA19005,NA19093,NA19098,NA19119,NA19137,NA19138,NA19147,NA19152,NA19159,NA19160,NA19190,NA19200,NA19204,NA19207,NA19209,NA19238,NA19239,NA19257 esv28451 1 9596173 9597928 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15031,esv11914 M 451 0 5 "" NA18505,NA18907,NA19147,NA19190,NA19257 nsv2076 1 9597218 9631433 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3078 S 9 1 0 SLC25A33 NA18555 esv37038 1 9598764 9601013 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114667 S 6 0 1 Samples from several populations that are part of the HapMap project. SLC25A33 NA12878 esv42683 1 9617907 9618108 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112093 S 6 0 1 Samples from several populations that are part of the HapMap project. SLC25A33 NA12878 esv160491 1 9647589 9650138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491873,essv476306,essv465177,essv485769,essv461954,essv471871,essv458660,essv480028 M 185 0 8 Samples from several populations that are part of the HapMap project. TMEM201 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36267 1 9648064 9650263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115712,essv114572,essv113327 M 6 0 3 Samples from several populations that are part of the HapMap project. TMEM201 NA12878,NA19238,NA19239 esv39897 1 9652594 9652820 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122019 S 6 0 1 Samples from several populations that are part of the HapMap project. TMEM201 NA12878 esv165062 1 9652685 9652749 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv551170,essv547999,essv549010,essv549876,essv543651,essv545917,essv543830,essv543550,essv546555,essv549617,essv544634,essv548685,essv549534,essv550214,essv546140,essv542160,essv545571,essv544167,essv548906,essv543361,essv548535,essv544828,essv549042,essv550423,essv548836,essv545160 M 185 0 26 Samples from several populations that are part of the HapMap project. TMEM201 NA07037,NA07051,NA07357,NA10847,NA10851,NA11831,NA11918,NA11919,NA11993,NA11995,NA12144,NA12249,NA12287,NA12414,NA12489,NA12761,NA12878,NA12891,NA18566,NA18605,NA18608,NA18856,NA18861,NA18916,NA18948,NA19108 nsv2187 1 9667296 9693750 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6883,nssv1500,nssv3334,nssv3119,nssv10282,nssv9906,nssv4948 M 9 7 0 TMEM201 NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508847 1 9672195 9738889 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623772,nssv621081,nssv619767 M 4 3 0 C1orf200,PIK3CD,TMEM201 NA10860,NA15510,NA18994 esv40169 1 9682808 9683229 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111983 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv41863 1 9683991 10241703 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110584 S 6 0 1 Samples from several populations that are part of the HapMap project. C1orf200,CLSTN1,CTNNBIP1,LZIC,NMNAT1,PIK3CD,RBP7,UBE4B NA19240 esv1010171 1 9684008 9685520 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565355 S 3 1 0 "" HuRef esv160173 1 9711189 9713738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492588,essv475564,essv464405,essv485649,essv471422,essv479470,essv458498,essv461531 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf200,PIK3CD NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv832203 1 9726632 9860209 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442685 S 95 0 1 CLSTN1,PIK3CD esv259473 1 9740250 9740665 OTHER Complex Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv2394044,essv2394363,essv2393758 M 6 0 0 Samples from several populations that are part of the HapMap project. PIK3CD NA19238,NA19239,NA19240 esv37946 1 9740349 9740585 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv120579,essv119616,essv120047 M 6 0 3 Samples from several populations that are part of the HapMap project. PIK3CD NA19238,NA19239,NA19240 esv160559 1 9748389 9751238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461426,essv459034,essv479975,essv485355,essv464609,essv471331,essv475928,essv491432 M 185 0 8 Samples from several populations that are part of the HapMap project. PIK3CD NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37506 1 9748414 9751113 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115999,essv113408,essv115143 M 6 0 3 Samples from several populations that are part of the HapMap project. PIK3CD NA12892,NA19238,NA19239 esv35268 1 9748734 9771466 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv121017 S 6 0 1 Samples from several populations that are part of the HapMap project. PIK3CD NA19240 esv160390 1 9749164 9750613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv463148,essv493948,essv469892,essv483214,essv490549,essv472299,essv474712,essv464122,essv453062,essv474153,essv458093,essv442540,essv477369,essv447409,essv443841,essv444849,essv454537,essv449095,essv449877,essv431773,essv436688,essv489055,essv454390,essv491805,essv439272,essv495264,essv477865,essv434457,essv482282,essv484737,essv443517,essv484208,essv456733,essv446923,essv433838,essv433294,essv435787,essv486545,essv466034,essv467462,essv431038,essv468549,essv460529,essv478227,essv448302,essv480661,essv489876,essv437242,essv450591,essv487006,essv462685,essv457239,essv469404,essv438869,essv494770,essv455970,essv432116,essv493282,essv429048,essv440217,essv472732 M 185 0 61 Samples from several populations that are part of the HapMap project. PIK3CD NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 nsv160151 1 9762596 9766108 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178729 M 24 PIK3CD esv41956 1 9792698 9792933 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112531 S 6 0 1 Samples from several populations that are part of the HapMap project. CLSTN1 NA12878 esv163915 1 9806176 9806489 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv533469,essv528475 M 185 0 2 Samples from several populations that are part of the HapMap project. CLSTN1 NA11919,NA12004 nsv827364 1 9822732 9825197 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431975 S 31 0 1 CLSTN1 NA18972 nsv2298 1 9826286 9857487 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10302 S 9 0 1 CLSTN1 NA18956 esv35748 1 9827589 9830088 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115112,essv113452,essv114230 M 6 0 3 Samples from several populations that are part of the HapMap project. CLSTN1 NA12878,NA12892,NA19238 esv161767 1 9827589 9830138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv480558,essv459014,essv485411,essv461640,essv470742,essv465063,essv492159,essv475358 M 185 0 8 Samples from several populations that are part of the HapMap project. CLSTN1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160062 1 9828064 9829563 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv469599,essv491352,essv477137,essv435730,essv470347,essv482077,essv494246,essv436981,essv474928,essv446784,essv430966,essv432213,essv489806,essv481101,essv448216,essv454676,essv429235,essv494317,essv467209,essv457667,essv479210,essv465632,essv448738,essv484173,essv444038,essv478086,essv456403,essv443094,essv434364,essv490688,essv445100,essv484364,essv466268,essv439993,essv442460,essv432986,essv457455,essv493376,essv483294,essv463084,essv447506,essv431461,essv486783,essv453160,essv472175,essv438322,essv477042,essv486991,essv478570,essv451071,essv463793,essv441931,essv436403,essv474160,essv460786,essv439464,essv454097,essv449787,essv472999 M 185 0 59 Samples from several populations that are part of the HapMap project. CLSTN1 NA06994,NA11881,NA11993,NA11995,NA12004,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18558,NA18561,NA18562,NA18564,NA18570,NA18571,NA18572,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv42829 1 9828605 9828886 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123147 S 6 0 1 Samples from several populations that are part of the HapMap project. CLSTN1 NA12878 esv41359 1 9838994 10052992 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111466 S 6 0 1 Samples from several populations that are part of the HapMap project. CLSTN1,CTNNBIP1,LZIC,NMNAT1 NA12878 dgv57e188 1 9842576 9856687 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1821566,esv1848817 M 6 0 2 CLSTN1 NA18576,NA18980 dgv11n67 1 9846555 9857371 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827697,nsv827475,nsv827586 M 31 0 4 CLSTN1 NA18526,NA18564,NA18570,NA18949 nsv498662 1 9846650 9856696 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585382 S 9 0 1 CLSTN1 esv1850594 1 9847032 9853447 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4414647 S 6 0 1 CLSTN1 NA18980 dgv58e188 1 9847032 9856826 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1817417,esv1824497,esv1818972,esv1823165,esv1815656,esv1851002,esv1817934,esv1824898,esv1823318,esv1843596,esv1824318,esv1842948,esv1819093,esv1846628,esv1847729,esv1845506 M 6 0 16 CLSTN1 NA18576,NA18980 esv1822763 1 9847032 9864493 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4405505 S 6 0 1 CLSTN1 NA18576 esv1822883 1 9849560 9854162 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4391812 S 6 0 1 CLSTN1 NA18576 esv160603 1 9882589 9885538 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv465165,essv458932,essv479793,essv485625,essv471263,essv461762,essv492276,essv475901 M 185 0 8 Samples from several populations that are part of the HapMap project. CLSTN1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36666 1 9882989 9885488 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116110,essv114151 M 6 0 2 Samples from several populations that are part of the HapMap project. CLSTN1 NA12878,NA19239 esv159785 1 9883314 9884913 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv447242,essv470436,essv448075,essv432346,essv493206,essv463336,essv443098,essv436915,essv486930,essv477811,essv492360,essv476572,essv448837,essv483631,essv493798,essv494529,essv454748,essv462387,essv450063,essv469078,essv486666,essv457665,essv438896,essv495578,essv484048,essv485729,essv446391,essv482153,essv444701,essv444182,essv490312,essv456405,essv478691,essv451119,essv436351,essv472314,essv480926,essv472562,essv489726,essv441973,essv453136,essv433015,essv429080,essv455983,essv474694,essv431709,essv431185,essv439972,essv468853,essv467757,essv457472,essv463920,essv477182,essv466009,essv460518,essv438584,essv454051 M 185 0 57 Samples from several populations that are part of the HapMap project. CLSTN1 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18570,NA18571,NA18572,NA18576,NA18577,NA18592,NA18593,NA18609,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981 esv40073 1 9907675 9908012 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112279 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160975 1 9969189 9971738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492776,essv471691,essv475420,essv484311,essv459407,essv464660,essv461987,essv479532 M 185 0 8 Samples from several populations that are part of the HapMap project. CTNNBIP1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35393 1 9969289 9971563 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113164,essv113957 M 6 0 2 Samples from several populations that are part of the HapMap project. CTNNBIP1 NA12878,NA19238 dgv1534e59 1 10056189 10059138 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv159841,esv159884 M 185 0 16 RBP7 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv42807 1 10072913 10073014 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv122903 S 6 0 1 Samples from several populations that are part of the HapMap project. RBP7 NA19240 nsv527217 1 10093457 10257167 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703617 S 2026 1 0 UBE4B nsv522629 1 10125765 10239197 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706027 S 2026 1 0 UBE4B nsv525216 1 10195940 10200574 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701302 S 2026 1 0 UBE4B esv2562286 1 10230395 10231752 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5304967 S 1 0 1 UBE4B NA18507 dgv17e1 1 10238070 10582554 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10115,esv397,essv15694 M 271 0 0 APITD1,APITD1-CORT,CORT,DFFA,KIF1B,PEX14,PGD,UBE4B NA18912,NA19130 esv41382 1 10241669 10242029 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110956 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv35476 1 10246814 10249513 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115109,essv113339,essv114135,essv115402 M 6 0 4 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 esv160891 1 10247464 10248513 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv477304,essv474617,essv433980,essv457882,essv446939,essv487439,essv490309,essv447195,essv441962,essv482013,essv444867,essv478401,essv483269,essv494401,essv494238,essv479034,essv452880,essv448537,essv491804,essv435876,essv485041,essv453887,essv476894,essv493345,essv432062,essv472016,essv430992,essv439877,essv437071,essv450575,essv495322,essv439299,essv434865,essv466619,essv456770,essv483999,essv477620,essv443211,essv443789,essv431923,essv463942,essv436337,essv462809,essv448596,essv489398,essv463224,essv442056,essv480598,essv474046,essv472805,essv460355,essv468635,essv469518,essv429517,essv488958,essv455979,essv433208,essv466134,essv486280,essv467212,essv454796,essv457131,essv438398,essv470428 M 185 0 64 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 nsv512718 1 10247608 10248075 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625342 S 1 1 0 "" 1 esv165504 1 10249481 10252272 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163168 S 185 0 3 Samples from several populations that are part of the HapMap project. "" NA19108,NA19114,NA19116 dgv1535e59 1 10269389 10272738 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160722,esv159891 M 185 0 16 KIF1B NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37292 1 10269764 10272038 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114349,essv113472 M 6 0 2 Samples from several populations that are part of the HapMap project. KIF1B NA12878,NA19238 esv40454 1 10280175 10280451 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112383 S 6 0 1 Samples from several populations that are part of the HapMap project. KIF1B NA12878 esv4531 1 10334704 10334932 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26972 S 1 0 1 Single Asian sample YH KIF1B YH esv43771 1 10334732 10334817 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39594,esv38610,esv41373 M 6 0 9 Samples from several populations that are part of the HapMap project. KIF1B NA12878,NA19238,NA19239,NA19240 esv42187 1 10344409 10344653 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111417 S 6 0 1 Samples from several populations that are part of the HapMap project. KIF1B NA12878 esv2550823 1 10351979 10353263 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5364930 S 1 0 1 KIF1B NA18507 nsv2409 1 10366090 10388236 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3425 S 9 1 0 KIF1B NA12878 dgv1n17 1 10366487 10387704 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437200,nsv437201 M 60 0 2 KIF1B NA18500,NA18914 nsv436146 1 10368866 10379009 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466361 S 2 0 1 Samples from several populations that are part of the HapMap project. KIF1B NA18505 nsv8102 1 10368970 10378846 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26900,nssv24611,nssv26885 M 31 0 3 Samples from several populations that are part of the HapMap project. KIF1B NA18502,NA18853,NA19132 esv23835 1 10369418 10378885 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12065 S 451 0 4 KIF1B NA18502,NA18505,NA18508,NA18861 esv166244 1 10369470 10378666 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162897,esv163436,esv161876,esv163216 M 185 0 20 Samples from several populations that are part of the HapMap project. KIF1B NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18912,NA19238 esv43580 1 10369470 10378666 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv35502,esv35948,esv39025,esv38628,esv39194 M 6 0 5 Samples from several populations that are part of the HapMap project. KIF1B NA19238 esv2421759 1 10369546 10377983 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5032695,essv5145827,essv5011379,essv5107159,essv5064063,essv5109789,essv5124066,essv5081479,essv5151358,essv5031808,essv5072375,essv5158917,essv5014103,essv5048097,essv5060455,essv5066898,essv5131012,essv5005447,essv5155081,essv5087410,essv5045696,essv5146221,essv5089301,essv5053735,essv5030658,essv5100113,essv5037021,essv5028433,essv5103254,essv5062929,essv5074473,essv5075248,essv5095610,essv5071040,essv5054475,essv5131639,essv5012723,essv5077233,essv5073299,essv5033654,essv5029372,essv5013970,essv5110636,essv5062374,essv5059809,essv5098414,essv5141223,essv5142692,essv5145720,essv5033256,essv5118117,essv5093833,essv5117819,essv5104647,essv5031784,essv5084373,essv5049783,essv5131248,essv5011913 M 1184 0 59 KIF1B NA18497,NA18499,NA18500,NA18501,NA18505,NA18506,NA18508,NA18510,NA18853,NA18854,NA18861,NA18863,NA18867,NA18868,NA18869,NA18912,NA18913,NA18914,NA18933,NA18935,NA19118,NA19130,NA19132,NA19176,NA19179,NA19180,NA19184,NA19185,NA19186,NA19192,NA19198,NA19207,NA19213,NA19215,NA19235,NA19237,NA19238,NA19248,NA19249,NA19314,NA19359,NA19374,NA19434,NA19444,NA19452,NA19664,NA19703,NA19705,NA19819,NA20294,NA20295,NA20297,NA20322,NA20348,NA21300,NA21418,NA21441,NA21520,NA21613 nsv515546 1 10370312 10373503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656820,nssv667133,nssv656381,nssv680418,nssv654559,nssv657555,nssv671141,nssv682975,nssv690059,nssv663872,nssv695737,nssv667908,nssv679262,nssv680299,nssv691095,nssv658813,nssv687648,nssv676915,nssv686246,nssv690144,nssv666539,nssv658241,nssv660763 M 2026 0 23 KIF1B nsv818666 1 10370312 10373503 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416820,nssv1417808,nssv1418422,nssv1417809 M 112 0 4 KIF1B NA18853,NA18854,NA19192,NA19238 nsv441678 1 10370541 10377983 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIF1B nsv513981 1 10370854 10377962 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627018 S 1414 0 1 KIF1B nsv437970 1 10375179 10378416 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467963,nssv471534,nssv467741,nssv468185,nssv468074,nssv467852 M 269 0 6 Samples from several populations that are part of the HapMap project. KIF1B NA18500,NA18502,NA18912,NA18914,NA19130,NA19132 essv3548 1 10449443 10582554 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. APITD1,APITD1-CORT,CORT,DFFA,PEX14,PGD NA18965 nsv8213 1 10450914 10460439 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28055 S 31 1 0 Samples from several populations that are part of the HapMap project. PGD NA19221 dgv59e188 1 10467074 10483456 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1827009,esv1831760,esv1830329 M 6 0 3 PGD NA15510 esv1836264 1 10473200 10483456 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4409964 S 6 1 0 PGD NA10851 esv1010529 1 10476195 10478586 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564483 S 3 0 1 PGD HuRef esv1848589 1 10481373 10484818 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4371943 S 6 0 1 "" NA18980 nsv8324 1 10481597 10484645 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21445,nssv24596,nssv24601,nssv28052,nssv11773,nssv24615,nssv28037,nssv24609,nssv26893,nssv26875,nssv28046,nssv26887,nssv12119,nssv29270,nssv24608,nssv21428,nssv28538,nssv29251,nssv26889,nssv28548 M 31 0 20 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18972,NA18975,NA18980,NA19132,NA19173 nsv511676 1 10482243 10483797 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626314 S 1 0 1 "" 1 dgv12n67 1 10482342 10483642 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827808,nsv827919 M 31 0 11 "" AK12,AK16,AK20,AK4,NA18526,NA18552,NA18564,NA18951,NA18968,NA18972,NA18997 esv3677 1 10482452 10483948 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26118 S 1 0 1 Single Asian sample YH "" YH esv7749 1 10482474 10483805 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30190 S 1 0 1 "" SJK esv165483 1 10482481 10483779 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163267,esv163630,esv160042,esv163537,esv161763,esv162736,esv163618 M 185 0 325 Samples from several populations that are part of the HapMap project. "" NA06985,NA06994,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11829,NA11830,NA11832,NA11840,NA11919,NA11992,NA11994,NA11995,NA12003,NA12004,NA12005,NA12006,NA12044,NA12045,NA12144,NA12155,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12828,NA12878,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18517,NA18519,NA18522,NA18526,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18572,NA18577,NA18603,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18943,NA18948,NA18951,NA18956,NA18961,NA18967,NA18968,NA18971,NA18972,NA18974,NA18975,NA18976,NA18980,NA19093,NA19102,NA19108,NA19114,NA19116,NA19119,NA19129,NA19137,NA19138,NA19147,NA19172,NA19190,NA19201,NA19207,NA19209,NA19210,NA19225,NA19238,NA19257 esv43451 1 10482481 10483779 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv40307,esv39761,esv39944,esv39307,esv36098,esv38910 M 6 0 12 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 nsv160262 1 10482481 10483779 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178840 M 24 "" esv26404 1 10482550 10483507 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14503 S 451 0 7 "" NA07037,NA12004,NA12749,NA15510,NA18517,NA18909,NA19129 esv36321 1 10489564 10491863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114357 S 6 0 1 Samples from several populations that are part of the HapMap project. APITD1,APITD1-CORT NA12878 esv41466 1 10512209 10512476 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111446 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv165687 1 10543477 10546167 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162919 S 185 0 3 Samples from several populations that are part of the HapMap project. PEX14 NA18486,NA18499,NA19138 esv2421360 1 10543836 10545046 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5125662,essv5010570,essv5074992,essv5072629,essv5145841,essv5151994,essv5118967,essv5079670,essv5138311,essv5061676,essv5043282,essv5160849,essv5088559,essv5151853,essv5057594,essv5148686,essv5094667,essv5037011,essv5005178,essv5030172,essv5115009,essv5142946,essv5099736,essv5160550,essv5120264,essv5087529,essv5023863,essv5102680,essv5122639,essv5111430,essv5154504 M 1184 0 31 PEX14 NA07045,NA18497,NA18499,NA18870,NA18917,NA18930,NA19010,NA19041,NA19098,NA19138,NA19178,NA19180,NA19192,NA19194,NA19347,NA19399,NA19713,NA19983,NA20288,NA21295,NA21333,NA21339,NA21356,NA21390,NA21399,NA21401,NA21418,NA21436,NA21634,NA21636,NA21682 nsv2521 1 10553530 10598171 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7460 S 9 0 1 PEX14 NA12156 esv163820 1 10554486 10554826 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv521869,essv537607 M 185 0 2 Samples from several populations that are part of the HapMap project. PEX14 NA06986,NA11831 nsv8435 1 10568184 10572374 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24613 S 31 1 0 Samples from several populations that are part of the HapMap project. PEX14 NA18942 esv41783 1 10584494 10584955 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112808 S 6 0 1 Samples from several populations that are part of the HapMap project. PEX14 NA12878 esv166038 1 10625530 10626454 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163354 S 185 0 12 Samples from several populations that are part of the HapMap project. PEX14 NA11894,NA11918,NA12414,NA12828,NA12878,NA18502,NA18523,NA18547,NA18582,NA18945,NA18947,NA19108 nsv517464 1 10638604 10643197 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685750,nssv681545,nssv652091,nssv683372,nssv693755,nssv679135 M 2026 0 6 PEX14 nsv818777 1 10638604 10643197 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417173 S 112 0 1 PEX14 NA18550 esv275132 1 10656324 10657912 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586077 S 1250 0 1 PEX14 esv40877 1 10660253 10660658 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111048 S 6 0 1 Samples from several populations that are part of the HapMap project. PEX14 NA12878 esv36367 1 10669114 10671613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114780 S 6 0 1 Samples from several populations that are part of the HapMap project. PEX14 NA12878 esv1828181 1 10673130 10829937 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Human CGH 3x720K Whole-Genome Tiling v3.0 Array essv4424190 S 6 0 1 CASZ1,PEX14 NA15510 dgv4n27 1 10673194 10796866 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465061,nsv464505 M 1557 0 2 CASZ1,PEX14 1780862093_A,1780862573_A esv29966 1 10676800 10874152 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84205 S 2 0 1 CASZ1,PEX14 HuRef nsv828030 1 10677562 10795161 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436327 S 31 1 0 CASZ1,PEX14 NA18542 esv160501 1 10688814 10691313 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492845,essv485474,essv458491,essv465308,essv475588,essv461393,essv480130,essv471027 M 185 0 8 Samples from several populations that are part of the HapMap project. PEX14 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv464949 1 10690948 10757199 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540805 S 1557 0 1 CASZ1 1780862345_A nsv525693 1 10694125 10840905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701852 S 2026 0 1 CASZ1 nsv828141 1 10695477 10704197 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423940 S 31 1 0 CASZ1 NA18947 esv41643 1 10696684 10697066 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111357 S 6 0 1 Samples from several populations that are part of the HapMap project. CASZ1 NA12878 dgv1536e59 1 10697589 10700738 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv159941,esv161240 M 185 0 16 CASZ1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv828252 1 10697810 10703034 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433409 S 31 1 0 CASZ1 NA18526 nsv828364 1 10697810 10764164 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440798 S 31 1 0 CASZ1 NA18969 esv37451 1 10698089 10700338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113260,essv114820,essv115979,essv115422 M 6 0 4 Samples from several populations that are part of the HapMap project. CASZ1 NA12878,NA19238,NA19239,NA19240 nsv436924 1 10704688 10732269 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466805 S 60 0 1 Samples from several populations that are part of the HapMap project. CASZ1 NA10847 nsv832314 1 10704811 10859919 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442696,nssv1442707,nssv1442718 M 95 0 3 CASZ1 nsv438081 1 10706091 10717597 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468407,nssv468296 M 269 0 2 Samples from several populations that are part of the HapMap project. CASZ1 NA10847,NA12146 esv163554 1 10708658 10708909 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv503614,essv506634 M 185 0 2 Samples from several populations that are part of the HapMap project. CASZ1 NA18499,NA19257 esv36745 1 10710414 10712613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113441 S 6 0 1 Samples from several populations that are part of the HapMap project. CASZ1 NA19238 nsv508858 1 10710624 10813210 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619768 S 4 1 0 CASZ1 NA10860 esv42598 1 10710654 10711030 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111633 S 6 0 1 Samples from several populations that are part of the HapMap project. CASZ1 NA12878 nsv818888 1 10719645 10750432 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417515 S 112 0 1 CASZ1 NA18968 dgv7334e59 1 10720264 10724063 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37309,esv36212,esv36542 M 6 0 3 CASZ1 NA19238,NA19239,NA19240 esv43725 1 10722356 10722420 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv42823 S 6 0 1 Samples from several populations that are part of the HapMap project. CASZ1 NA12878 esv997282 1 10731782 10745649 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564310 S 3 0 1 CASZ1 HuRef dgv18e1 1 10742502 10921155 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18597,essv13846,essv11014,essv5362,essv2783,essv7352,essv21666,essv22143,essv3996,essv18290 M 271 0 0 CASZ1 NA10846,NA10857,NA12234,NA12248,NA18563,NA18570,NA18854,NA18970,NA18987,NA19143 dgv19e1 1 10742502 11055147 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7839,esv239 M 271 0 0 C1orf127,CASZ1 NA18558 esv160630 1 10752889 10756738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476296,essv458760,essv465052,essv484678,essv480579,essv471268,essv461978,essv491346 M 185 0 8 Samples from several populations that are part of the HapMap project. CASZ1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv8546 1 10752927 10756767 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28027,nssv28926 M 31 2 0 Samples from several populations that are part of the HapMap project. CASZ1 NA07029,NA12740 esv36149 1 10753464 10756213 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115519,essv113826 M 6 0 2 Samples from several populations that are part of the HapMap project. CASZ1 NA12891,NA19240 nsv465172 1 10757199 10796866 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541028 S 1557 0 1 CASZ1 1780862416_A nsv465283 1 10767902 10815421 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541114 S 1557 0 1 CASZ1 NINDS_198 esv40045 1 10796094 10796597 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111744 S 6 0 1 Samples from several populations that are part of the HapMap project. CASZ1 NA12878 essv11784 1 10803818 10921155 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CASZ1 NA18504 esv38543 1 10804320 10804866 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv116811,essv118268 M 6 0 2 Samples from several populations that are part of the HapMap project. CASZ1 NA19239,NA19240 esv166120 1 10804348 10804808 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164134 S 185 0 3 Samples from several populations that are part of the HapMap project. CASZ1 NA18561,NA18593,NA18942 esv163787 1 10833616 10833960 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv521973,essv535616 M 185 0 2 Samples from several populations that are part of the HapMap project. CASZ1 NA06986,NA11992 dgv7335e59 1 10835464 10839763 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37175,esv35508 M 6 0 2 CASZ1 NA19238,NA19240 esv160414 1 10835964 10840463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv477261,essv439965,essv433577,essv473168,essv452697,essv440509,essv482893,essv461771 M 185 0 8 Samples from several populations that are part of the HapMap project. CASZ1 NA11830,NA11920,NA18582,NA18974,NA18981,NA19119,NA19153,NA19200 nsv159406 1 10845226 10845226 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177984 M 24 CASZ1 esv36594 1 10853539 10857138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115149,essv114567 M 6 0 2 Samples from several populations that are part of the HapMap project. CASZ1 NA12878,NA12892 esv160845 1 10855189 10857938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485210,essv491727,essv461340,essv464548,essv479949,essv471170,essv459413,essv476309 M 185 0 8 Samples from several populations that are part of the HapMap project. CASZ1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1825837 1 10887923 11093741 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Affymetrix Mapping 250K Nsp SNP Array essv4367807 S 6 1 0 C1orf127,MASP2,TARDBP NA15510 dgv1537e59 1 10893935 10894399 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv163526,esv162415 M 185 0 25 "" NA07000,NA07346,NA11830,NA11831,NA11992,NA12006,NA12249,NA18502,NA18507,NA18508,NA18510,NA18519,NA18526,NA18555,NA18562,NA18573,NA18909,NA18943,NA19093,NA19108,NA19210,NA19239,NA19240 nsv832425 1 10903845 11122975 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442741,nssv1442729 M 95 0 2 C1orf127,MASP2,SRM,TARDBP dgv7336e59 1 10911664 10915263 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36095,esv37271 M 6 0 2 "" NA19239,NA19240 esv2418090 1 10913373 10913836 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522724 S 1 0 1 "" NA18507 esv42028 1 10915331 10915783 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110540 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv36442 1 10925564 10927613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114013 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv161038 1 10925989 10928738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464472,essv479813,essv461243,essv484346,essv459092,essv491303,essv475741,essv471414 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161169 1 10947789 10950338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476064,essv458828,essv484383,essv471885,essv464408,essv461851,essv479420,essv491497 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv27036 1 10951426 10952195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19765 S 451 0 1 "" NA19147 esv37360 1 10964514 10966613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115530,essv116529 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv160325 1 10964914 10966113 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv477214,essv460604,essv441566,essv448787,essv446525,essv454505,essv494035,essv434341,essv440021,essv489027,essv449760,essv447673,essv437066,essv467426,essv450846,essv470229,essv492303,essv456702,essv468486,essv452915,essv477561,essv466730,essv444984,essv457783,essv439018,essv490596,essv443399,essv484012,essv443835,essv431940,essv472504,essv431201,essv462484,essv474717,essv476650,essv448506,essv453990,essv478847,essv463508,essv487354,essv489728,essv469427,essv465649,essv442115,essv438694,essv429421,essv481119,essv495664,essv432251,essv484646,essv482353,essv493536,essv436180,essv456152 M 185 0 54 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18537,NA18545,NA18547,NA18550,NA18555,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18576,NA18577,NA18592,NA18593,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18974,NA18975,NA18980,NA18981,NA19005 esv42571 1 10979421 10979811 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112877 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv516264 1 10983951 10984562 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676652,nssv693249,nssv683701,nssv680546,nssv662101,nssv655703,nssv667169,nssv688415 M 2026 0 8 "" esv40838 1 10992633 10993039 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112782 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2576089 1 10993351 10993742 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5340923 S 1 0 1 "" NA18507 nsv508869 1 11016257 11068516 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621082 S 4 1 0 C1orf127 NA15510 esv38104 1 11030769 11031614 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv113068 S 6 0 1 Samples from several populations that are part of the HapMap project. C1orf127 NA12878 esv40918 1 11039967 11040259 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112718 S 6 0 1 Samples from several populations that are part of the HapMap project. C1orf127 NA12878 esv1628805 1 11043232 11043969 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981893 S 2 0 1 "" HuRef esv37873 1 11047277 11047647 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122085 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv1538e59 1 11047287 11047646 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv166460,esv162324 M 185 0 94 "" NA07037,NA07346,NA07347,NA07357,NA11829,NA11881,NA11894,NA11920,NA11931,NA11993,NA11994,NA12004,NA12006,NA12043,NA12144,NA12154,NA12155,NA12489,NA12749,NA12763,NA12776,NA12813,NA12828,NA18486,NA18498,NA18499,NA18502,NA18504,NA18505,NA18507,NA18510,NA18511,NA18517,NA18520,NA18522,NA18523,NA18526,NA18542,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18579,NA18592,NA18593,NA18605,NA18608,NA18609,NA18853,NA18856,NA18858,NA18861,NA18912,NA18916,NA18943,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18965,NA18967,NA18973,NA18974,NA18975,NA19005,NA19093,NA19098,NA19099,NA19108,NA19114,NA19116,NA19129,NA19131,NA19137,NA19138,NA19144,NA19147,NA19160,NA19172,NA19201,NA19207,NA19210,NA19225,NA19238,NA19257 esv37638 1 11050364 11054963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114709 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2592186 1 11059704 11063290 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5335168 S 1 0 1 "" NA18507 dgv1539e59 1 11059955 11062452 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv165443,esv166401 M 185 0 33 "" NA18489,NA18499,NA18502,NA18507,NA18508,NA18510,NA18603,NA18858,NA18912,NA18916,NA19099,NA19137,NA19144,NA19160,NA19171,NA19190,NA19207,NA19209,NA19238,NA19240,NA19257 dgv7337e59 1 11060017 11062551 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43579,esv43634 M 6 0 10 "" NA19238,NA19240 esv23739 1 11060167 11061907 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14228 S 451 0 1 "" NA19190 esv164878 1 11084990 11085096 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv550554,essv550011,essv549252,essv542192 M 185 0 4 Samples from several populations that are part of the HapMap project. TARDBP NA12749,NA18907,NA18973,NA19114 esv41765 1 11085000 11085095 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv119188,essv119266 M 6 0 2 Samples from several populations that are part of the HapMap project. TARDBP NA19238,NA19240 esv165877 1 11097389 11106571 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162299 S 185 0 3 Samples from several populations that are part of the HapMap project. MASP2 NA19116,NA19153,NA19257 esv25881 1 11097562 11106051 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13377,esv21307 M 451 2 1 MASP2 NA06985,NA12044,NA19257 esv160222 1 11098864 11104363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv440426,essv452276,essv438040,essv433703,essv439734,essv439045,essv490194,essv488342,essv447732,essv463362,essv452782,essv444508,essv476393,essv453759,essv468881 M 185 0 15 Samples from several populations that are part of the HapMap project. MASP2 NA12813,NA12828,NA18582,NA18967,NA18971,NA18975,NA18981,NA19098,NA19119,NA19153,NA19159,NA19160,NA19204,NA19207,NA19257 esv163783 1 11099655 11101893 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv568881 S 185 0 1 Samples from several populations that are part of the HapMap project. MASP2 NA12749 esv39398 1 11099881 11101886 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122497 S 6 0 1 Samples from several populations that are part of the HapMap project. MASP2 NA19239 esv166444 1 11101657 11102233 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162161 S 185 0 29 Samples from several populations that are part of the HapMap project. MASP2 NA06986,NA07000,NA07037,NA07357,NA11919,NA12144,NA12156,NA12751,NA12763,NA12891,NA12892,NA18489,NA18501,NA18508,NA18550,NA18558,NA18572,NA18573,NA18593,NA18608,NA18870,NA18907,NA18942,NA18944,NA18964,NA19099,NA19147,NA19190,NA19239 esv162697 1 11101792 11102145 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528415,essv502051,essv507100,essv529478,essv521994,essv538810 M 185 0 6 Samples from several populations that are part of the HapMap project. MASP2 NA06986,NA11919,NA12003,NA12144,NA12751,NA12763 esv1842335 1 11102540 11111629 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4386579 S 6 0 1 MASP2 NA10851 esv40529 1 11130582 11130968 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112838 S 6 0 1 Samples from several populations that are part of the HapMap project. EXOSC10 NA12878 esv41168 1 11186065 11186355 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111248 S 6 0 1 Samples from several populations that are part of the HapMap project. MTOR NA12878 esv267860 1 11212249 11212574 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494076,essv2495689,essv2505624 M 157 3 0 Samples from several populations that are part of the HapMap project. MTOR NA18871,NA18916,NA19005 esv164166 1 11212325 11212598 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv561688,essv552334,essv553700 M 185 0 3 Samples from several populations that are part of the HapMap project. MTOR NA18871,NA18916,NA19005 esv162082 1 11255473 11255812 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv532060,essv503580 M 185 0 2 Samples from several populations that are part of the HapMap project. ANGPTL7,MTOR NA18505,NA19257 esv41220 1 11267223 11267639 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112496 S 6 0 1 Samples from several populations that are part of the HapMap project. MTOR NA12878 esv161720 1 11331989 11334538 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485740,essv464506,essv475933,essv459101,essv462166,essv479529,essv471387,essv491474 M 185 0 8 Samples from several populations that are part of the HapMap project. UBIAD1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv516050 1 11372638 11398365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701963,nssv665889,nssv700989,nssv683456 M 2026 0 4 "" nsv832536 1 11388777 11562341 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442752 S 95 0 1 PTCHD2 esv161681 1 11394864 11399163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484878,essv469148,essv437977,essv447796,essv488339,essv449424,essv478932,essv439741,essv483982,essv439192,essv435196,essv465359,essv439540,essv447325,essv483088,essv470180,essv470551,essv451735 M 185 0 18 Samples from several populations that are part of the HapMap project. "" NA06994,NA07347,NA11832,NA11995,NA12003,NA12813,NA18537,NA18547,NA18592,NA18853,NA18871,NA18960,NA18975,NA18981,NA19138,NA19171,NA19200,NA19204 esv40996 1 11426348 11426578 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111401 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv39528 1 11433326 11435118 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123055 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv165340 1 11433926 11434387 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv545742,essv547551,essv541953,essv549975,essv544694,essv548898,essv550804,essv544326,essv542252,essv545669 M 185 0 10 Samples from several populations that are part of the HapMap project. "" NA12004,NA12144,NA12156,NA18501,NA18577,NA18603,NA18907,NA19114,NA19240,NA19257 esv38372 1 11434010 11434368 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121575 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12892 esv41379 1 11437298 11437894 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110930 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv465394 1 11493832 11520653 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541193 S 1557 0 1 "" 1780854097_A nsv528438 1 11496994 11501431 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705033 S 2026 0 1 "" nsv2632 1 11537077 11567852 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv298 S 9 1 0 PTCHD2 NA19240 esv35194 1 11537564 11541763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114782 S 6 0 1 Samples from several populations that are part of the HapMap project. PTCHD2 NA12878 esv160904 1 11537989 11540538 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476170,essv471165,essv484683,essv479471,essv464804,essv461317,essv458408,essv492552 M 185 0 8 Samples from several populations that are part of the HapMap project. PTCHD2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv162117 1 11544129 11544540 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv515552,essv528528 M 185 0 2 Samples from several populations that are part of the HapMap project. PTCHD2 NA11919,NA12828 nsv832647 1 11562347 11669596 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442763 S 95 0 1 PTCHD2 nsv465505 1 11562490 11601119 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541299 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTCHD2 HGDP00857 nsv465727 1 11562490 11626858 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541477 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTCHD2 HGDP00787 nsv470692 1 11575260 11622979 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547697 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTCHD2 HGDP00599 nsv521736 1 11577831 11595331 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694500 S 2026 0 1 PTCHD2 esv39384 1 11582337 11583120 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv113097 S 6 0 1 Samples from several populations that are part of the HapMap project. PTCHD2 NA12878 esv2628262 1 11582403 11583169 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5205183 S 1 1 0 PTCHD2 NA18507 esv26916 1 11582552 11583022 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13120 S 451 0 1 PTCHD2 NA07045 esv43034 1 11584694 11585079 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123183 S 6 0 1 Samples from several populations that are part of the HapMap project. PTCHD2 NA12878 esv40136 1 11595287 11595545 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110550 S 6 0 1 Samples from several populations that are part of the HapMap project. PTCHD2 NA19240 esv41376 1 11596763 11597351 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112145 S 6 0 1 Samples from several populations that are part of the HapMap project. PTCHD2 NA12878 esv40609 1 11599800 11599866 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv113009 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv273466 1 11599811 11599943 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581353 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv520251 1 11614268 11626858 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697308 S 2026 0 1 "" esv165447 1 11627926 11628724 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162615 S 185 0 10 Samples from several populations that are part of the HapMap project. "" NA07347,NA12716,NA18486,NA18502,NA18516,NA18861,NA18975,NA19138,NA19152,NA19171 esv41932 1 11652245 11652748 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111381 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2570682 1 11682692 11684391 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5218562 S 1 0 1 "" NA18507 esv2017403 1 11682714 11683369 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788047 S 1 0 1 "" NA18507 esv38606 1 11682825 11683249 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv118084,essv117717,essv117446,essv117162,essv118394 M 6 0 5 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv41609 1 11682834 11683004 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112034 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv3208 1 11682836 11683312 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25649 S 1 0 1 Single Asian sample YH "" YH esv7758 1 11682893 11683184 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30199 S 1 0 1 "" SJK esv166588 1 11682894 11683189 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163170,esv161964,esv162527,esv163931 M 185 0 283 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12828,NA12878,NA12891,NA12892,NA18486,NA18489,NA18498,NA18499,NA18501,NA18505,NA18507,NA18508,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18561,NA18563,NA18564,NA18566,NA18571,NA18573,NA18576,NA18579,NA18605,NA18608,NA18638,NA18856,NA18861,NA18870,NA18909,NA18916,NA18942,NA18944,NA18947,NA18952,NA18956,NA18967,NA19102,NA19119,NA19225,NA19238,NA19240,NA19257 esv43687 1 11682894 11683189 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39893,esv37294,esv37941,esv39661 M 6 0 15 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 nsv832758 1 11697083 11837144 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442774 S 95 0 1 AGTRAP,C1orf187,FBXO2,FBXO44,FBXO6,MAD2L2 nsv515826 1 11710561 11713563 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673329,nssv679392,nssv683681,nssv674188,nssv682473,nssv655395,nssv693798,nssv660113,nssv664907,nssv681520,nssv685412,nssv666865,nssv682277 M 2026 0 13 FBXO2 esv42195 1 11713503 11714069 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111636 S 6 0 1 Samples from several populations that are part of the HapMap project. FBXO2 NA12878 nsv521468 1 11713563 11717300 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694449 S 2026 0 1 FBXO2,FBXO44 esv161080 1 11713789 11716338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476255,essv492246,essv471781,essv479614,essv462191,essv458586,essv465327,essv484357 M 185 0 8 Samples from several populations that are part of the HapMap project. FBXO2,FBXO44 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160553 1 11723389 11725938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476012,essv492600,essv464674,essv471250,essv458553,essv485460,essv479913,essv462145 M 185 0 8 Samples from several populations that are part of the HapMap project. FBXO6 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv163316 1 11731286 11731649 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv522095,essv512716 M 185 0 2 Samples from several populations that are part of the HapMap project. FBXO6 NA06986,NA12043 esv165965 1 11739619 11739680 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164616 S 185 0 2 Samples from several populations that are part of the HapMap project. MAD2L2 NA19099,NA19108 esv43146 1 11739619 11739680 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv41616 S 6 0 1 Samples from several populations that are part of the HapMap project. MAD2L2 NA19239 esv160890 1 11750389 11753138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv470735,essv479640,essv475954,essv491728,essv461770,essv465147,essv484579,essv458971 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf187,MAD2L2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv508880 1 11781440 11831320 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619769 S 4 1 0 AGTRAP NA10860 esv40470 1 11796171 11796752 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112644 S 6 0 1 Samples from several populations that are part of the HapMap project. AGTRAP NA12878 esv164338 1 11830205 11830505 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv548128,essv544972,essv550852 M 185 0 3 Samples from several populations that are part of the HapMap project. "" NA12044,NA18526,NA18964 esv40586 1 11830215 11830504 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv119339,essv119002 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv518652 1 11857711 11862778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696101 S 2026 0 1 MTHFR esv161010 1 11865189 11867738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484695,essv480432,essv461258,essv471025,essv464403,essv476294,essv491538,essv459400 M 185 0 8 Samples from several populations that are part of the HapMap project. CLCN6,MTHFR NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv2280942 1 11889565 11889886 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641147 S 1 0 1 CLCN6 NA18507 esv42813 1 11889681 11889907 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123296 S 6 0 1 Samples from several populations that are part of the HapMap project. CLCN6 NA12878 esv40801 1 11897275 11897709 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112363 S 6 0 1 Samples from several populations that are part of the HapMap project. CLCN6 NA12878 nsv527521 1 11900825 11909514 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703975 S 2026 0 1 CLCN6,NPPA,NPPA-AS1 nsv517385 1 11928830 11928895 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669294,nssv681416,nssv653897,nssv690321,nssv652751,nssv656721,nssv673526 M 2026 0 7 "" esv161133 1 11984789 11987338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv465389,essv492294,essv471606,essv458595,essv480534,essv485825,essv462103,essv475365 M 185 0 8 Samples from several populations that are part of the HapMap project. KIAA2013 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37256 1 11985164 11987713 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114813 S 6 0 1 Samples from several populations that are part of the HapMap project. KIAA2013 NA12878 esv165575 1 11988552 11993537 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163575,esv163966 M 185 0 6 Samples from several populations that are part of the HapMap project. "" NA12414,NA18582,NA18593,NA18948,NA18952 nsv828475 1 11989622 11993278 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423944 S 31 0 1 "" NA18582 esv22435 1 11989868 11993484 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16673 S 451 0 1 "" NA12414 esv160286 1 12026589 12029138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484800,essv465127,essv471108,essv458726,essv479533,essv461172,essv492010,essv476034 M 185 0 8 Samples from several populations that are part of the HapMap project. PLOD1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160883 1 12029989 12032538 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475647,essv485450,essv464627,essv471038,essv479921,essv458492,essv492590,essv461200 M 185 0 8 Samples from several populations that are part of the HapMap project. PLOD1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36317 1 12030214 12032413 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114892 S 6 0 1 Samples from several populations that are part of the HapMap project. PLOD1 NA12878 esv159949 1 12030714 12031963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv446782,essv476727,essv470304,essv435764,essv472982,essv449775,essv494553,essv493134,essv442275,essv433819,essv462438,essv492131,essv454394,essv473783,essv467704,essv474991,essv457419,essv472393,essv441985,essv457737,essv444918,essv466174,essv438906,essv443505,essv490320,essv483770,essv456264,essv485012,essv481829,essv495425,essv444321,essv434843,essv478071,essv430989,essv454849,essv460430,essv437307,essv447250,essv466099,essv469416,essv468658,essv452867,essv478893,essv448116,essv432601,essv429548,essv488786,essv487429,essv450642,essv431749,essv483172,essv494108,essv438359,essv481156,essv463458,essv449097,essv432845,essv439719,essv436501,essv486643,essv477131,essv478610,essv455789,essv464150,essv489780 M 185 0 65 Samples from several populations that are part of the HapMap project. PLOD1 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv27905 1 12030771 12031509 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17941 S 451 1 0 PLOD1 NA12156 nsv470693 1 12050634 12115691 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547698 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MFN2,MIIP HGDP00556 esv268997 1 12066219 12066609 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508678,essv2509958,essv2502427 M 157 3 0 Samples from several populations that are part of the HapMap project. MFN2 NA18592,NA18593,NA18948 esv163279 1 12066235 12066329 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv558703,essv565249,essv564342 M 185 0 3 Samples from several populations that are part of the HapMap project. MFN2 NA18592,NA18593,NA18948 nsv469830 1 12099726 12259915 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649851 M 265 0 Samples from several populations that are part of the HapMap project. MIR4632,TNFRSF1B,TNFRSF8 esv159781 1 12104964 12109163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv450331,essv446350,essv436475,essv442746,essv429802,essv473126,essv483825,essv444442,essv482662,essv437467,essv452205 M 185 0 11 Samples from several populations that are part of the HapMap project. "" NA06994,NA11920,NA11992,NA12249,NA18523,NA18532,NA18579,NA18603,NA18953,NA19098,NA19160 esv6101 1 12122554 12122890 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28542 S 1 0 1 "" SJK nsv466060 1 12130051 12141461 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541698 S 1557 0 1 TNFRSF8 1780862021_A nsv525898 1 12141461 12168523 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702102 S 2026 0 1 TNFRSF8 esv165369 1 12143001 12143077 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv547483 S 185 0 1 Samples from several populations that are part of the HapMap project. TNFRSF8 NA12005 esv1290308 1 12150193 12150291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317882 S 2 0 1 TNFRSF8 HuRef nsv508891 1 12157977 12295102 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619770 S 4 1 0 MIR4632,TNFRSF1B,TNFRSF8,VPS13D NA10860 esv41555 1 12198945 12199056 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110657 S 6 0 1 Samples from several populations that are part of the HapMap project. TNFRSF8 NA19240 esv40051 1 12202050 12202393 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111894 S 6 0 1 Samples from several populations that are part of the HapMap project. TNFRSF8 NA12878 nsv820293 1 12203578 12203762 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1419048 S 2 0 1 TNFRSF8 AK1 esv165394 1 12208775 12208868 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv545322,essv543838 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA18508,NA18861 nsv471622 1 12215264 12431643 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550318,nssv550342,nssv550327,nssv550338,nssv550328,nssv550334,nssv550337,nssv550320,nssv550336,nssv550332,nssv550339,nssv550322,nssv550340,nssv550341,nssv550324,nssv550331,nssv550333,nssv550329,nssv550325,nssv550335,nssv550321,nssv550326,nssv550330,nssv550323,nssv550319,nssv550343 M 48 1 25 MIR4632,TNFRSF1B,VPS13D NA10492A,NA10494A,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11776,NA15724,NA15725,NA15726,NA15727,NA15728,NA15730,NA15732,NA15733,NA16688,NA17014A,NA17015,NA17017,NA17020A,NA17051,NA17052,NA17059A,P86GA esv40723 1 12219480 12219757 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110926 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv527024 1 12224239 12267265 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703399 S 2026 0 1 MIR4632,TNFRSF1B esv275384 1 12354307 12357076 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585374 S 1250 0 1 VPS13D nsv517848 1 12373748 12642243 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695253 S 2026 1 0 DHRS3,SNORA59A,SNORA59B,VPS13D nsv2743 1 12392606 12437500 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7522 S 9 0 1 VPS13D NA12156 nsv2854 1 12470692 12516109 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6975 S 9 0 1 VPS13D NA12156 esv43076 1 12500841 12500911 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv40794 S 6 0 1 Samples from several populations that are part of the HapMap project. VPS13D NA19239 nsv528439 1 12502427 12506960 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705034 S 2026 0 1 VPS13D nsv817617 1 12508943 12533468 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417810 S 112 0 1 VPS13D NA18853 esv163067 1 12520217 12520542 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv522020,essv528406 M 185 0 2 Samples from several populations that are part of the HapMap project. VPS13D NA06986,NA11919 esv40376 1 12561261 12561531 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111531 S 6 0 1 Samples from several populations that are part of the HapMap project. VPS13D NA12878 esv40266 1 12578622 12582460 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112821 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 essv17144 1 12599168 12831096 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AADACL3,AADACL4,C1orf158,DHRS3 NA19171 dgv20e1 1 12599168 13877055 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19269,essv1738,essv17525,essv24139,essv15250,essv21792,essv3141,essv4439,esv631,essv4720 M 271 0 0 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC440563,LOC649330,LRRC38,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA10838,NA10847,NA12239,NA12762,NA18552,NA18622,NA18969,NA18997,NA19094 nsv521737 1 12599422 12684837 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694501 S 2026 0 1 DHRS3 esv40757 1 12604356 12604535 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111584 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv163946 1 12616833 12617127 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv506689,essv529951 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA18499,NA18871 esv162566 1 12618463 12618784 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv516093,essv501921 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA18508,NA18522 nsv466172 1 12625101 12670396 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541787 S 1557 0 1 DHRS3 NINDS_71 nsv466283 1 12625101 12684837 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541870 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DHRS3 HGDP00259 esv42881 1 12625560 12625671 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv122874 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv160514 1 12640964 12645263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv438144,essv435680,essv469392,essv488371,essv451327,essv479377,essv482801,essv460918,essv429885,essv438963,essv483905,essv495007,essv439550,essv487613,essv433639 M 185 0 15 Samples from several populations that are part of the HapMap project. DHRS3 NA06994,NA07346,NA12249,NA12750,NA12813,NA18504,NA18522,NA18579,NA18592,NA19131,NA19152,NA19153,NA19159,NA19171,NA19204 esv42343 1 12650256 12650671 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112035 S 6 0 1 Samples from several populations that are part of the HapMap project. DHRS3 NA12878 esv36674 1 12654514 12656813 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115839 S 6 0 1 Samples from several populations that are part of the HapMap project. DHRS3 NA19239 esv1798693 1 12658904 13019851 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Whole-Genome TilePath (WGTP) array essv4379370 S 6 1 0 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA12239 dgv21e1 1 12674391 13130134 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13601,essv2582,essv22216 M 271 0 0 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12044,NA18990,NA19127 nsv428410 1 12674391 13795127 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454176,nssv454243,nssv454221,nssv453130,nssv454165,nssv454232,nssv454154 M 62 6 1 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 HGDP00450,HGDP00462,HGDP00463,HGDP00473,NA18916,NA19096,NA19189 esv1800531 1 12674391 13877055 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Whole-Genome TilePath (WGTP) array essv4379150 S 6 1 0 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC440563,LOC649330,LRRC38,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA12239 nsv515525 1 12719211 12723184 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663825,nssv655876,nssv687835,nssv691346 M 2026 0 4 AADACL4 nsv8657 1 12743147 12747960 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28045,nssv12449 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18853,NA19173 esv1936135 1 12743293 12746737 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851711 S 1 0 1 "" NA18507 esv166144 1 12743336 12746668 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163759,esv162130,esv162625 M 185 0 12 Samples from several populations that are part of the HapMap project. "" NA18489,NA18507,NA18522,NA18853,NA19102,NA19171 dgv60e188 1 12746537 13554418 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1796132,esv1801132,esv1801442,esv1792496,esv1800760,esv1811296,esv1801279,esv1801997,esv1791852,esv1813075,esv1795031,esv1800433,esv1812094,esv1795272,esv1798624,esv1795558,esv1806398,esv1794426 M 6 18 0 AADACL3,C1orf158,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA12239,NA18517 esv259758 1 12746602 12752155 OTHER Complex Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv2399336,essv2394724,essv2396569,essv2395741 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18507,NA18522,NA18853 nsv466394 1 12774999 12913896 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541946 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 HGDP00153 essv3598 1 12788406 12923962 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 NA18969 dgv22e1 1 12788406 13877055 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21921,essv1381,essv21630,essv2697,essv22676,essv21902,essv15030,essv9820,essv8779,essv18896,essv12773,essv22720,essv22442,essv19111,essv12911,essv11698,essv23267,essv18517,essv2742,essv22789,essv6145,essv2428,essv4342,essv18416,essv6526,essv16214,essv2050,essv24831,essv22686,essv6322,essv17868,essv938,essv10475,essv4016,essv20489,essv22849,essv17159,essv18563,essv23457 M 271 0 0 AADACL3,C1orf158,HNRNPCL1,LOC440563,LOC649330,LRRC38,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA07000,NA07345,NA07348,NA10838,NA10851,NA10854,NA10857,NA12004,NA12044,NA12057,NA12239,NA12249,NA12717,NA12752,NA12753,NA12761,NA12763,NA12874,NA18515,NA18532,NA18609,NA18611,NA18622,NA18863,NA18949,NA18951,NA18965,NA18967,NA18970,NA19007,NA19092,NA19094,NA19120,NA19129,NA19154,NA19161,NA19171 nsv832869 1 12807473 13019190 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442796,nssv1442785 M 95 1 1 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 dgv61e188 1 12807590 13785062 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1795098,esv1796418,esv1811006,esv1794988,esv1802596,esv1811743,esv1806002,esv1811235,esv1797601,esv1793323 M 6 10 0 C1orf158,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA12239,NA18517 esv163997 1 12818251 12818545 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv522144,essv519849,essv537647 M 185 0 3 Samples from several populations that are part of the HapMap project. C1orf158 NA06986,NA11831,NA12749 dgv23e1 1 12819063 12923962 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3668,essv8035,essv19818 M 271 0 0 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 NA10847,NA18991,NA19103 nsv470695 1 12820870 12913895 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547703,nssv547699,nssv547700,nssv547702 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 HGDP00694,HGDP00702,HGDP00988,HGDP01366 nsv528703 1 12820870 12913896 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705350 S 2026 0 1 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 esv38564 1 12822000 12822582 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv116930,essv118318,essv117231 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv162366 1 12822119 12822530 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv506787,essv515880,essv521824,essv517590,essv514926,essv526156,essv501929 M 185 0 7 Samples from several populations that are part of the HapMap project. "" NA18499,NA18508,NA18519,NA18522,NA18870,NA19138,NA19147 esv993047 1 12822300 12822511 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3566471 S 3 0 1 "" HuRef dgv24e1 1 12823111 13130134 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17827,essv11557,essv13702,essv14768,essv14054,essv2857,essv5244,essv3731 M 271 0 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA10831,NA18624,NA18861,NA18953,NA18961,NA19119,NA19159,NA19173 dgv62e188 1 12824223 13051338 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1796349,esv1801452,esv1796969,esv1792379,esv1792204,esv1802490,esv1802893,esv1797959,esv1797665,esv1797609,esv1802551,esv1802402,esv1798075,esv1799421 M 6 14 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA12239 dgv63e188 1 12829219 13151732 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1804148,esv1797481,esv1793710,esv1793117,esv1806570,esv1844272,esv1800829,esv1803506,esv1792940,esv1821024,esv1801938,esv1796885,esv1804761,esv1808399,esv1793793,esv1809843,esv1802755,esv1798935 M 6 18 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12239,NA18517,NA18576,NA18980 dgv5n27 1 12834253 12913896 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466727,nsv466505 M 1557 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1798860570_A,HGDP00007 dgv6n27 1 12835868 12913896 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466838,nsv466949,nsv466616 M 1557 0 3 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1780862077_A,HGDP00952,HGDP01366 nsv517190 1 12835868 13775830 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684041,nssv683850,nssv654351,nssv675460,nssv681069,nssv691789,nssv676529,nssv651901,nssv652055,nssv659765,nssv671841,nssv668984,nssv674582,nssv665485,nssv677586,nssv685508,nssv680570,nssv663875,nssv664467,nssv655162,nssv676168,nssv685626,nssv688711,nssv680870,nssv655298,nssv659477,nssv670277,nssv659462,nssv680445,nssv655601,nssv688922,nssv688196,nssv682789,nssv660425,nssv678613,nssv692088,nssv689950,nssv675204,nssv688182,nssv660265,nssv692526,nssv690595,nssv690145,nssv658218,nssv656069,nssv681241,nssv688036,nssv669316,nssv653971,nssv672363,nssv662916,nssv658961,nssv702090,nssv676530,nssv684928,nssv660049,nssv670769,nssv687277,nssv680385,nssv674814,nssv664702,nssv687198,nssv678933,nssv668625,nssv652682,nssv662290,nssv672026,nssv674765,nssv675328,nssv687685,nssv660725,nssv658370,nssv654248,nssv662505,nssv664297,nssv652446,nssv663203,nssv659030,nssv681352,nssv662340,nssv678527,nssv677999,nssv683316,nssv705370,nssv658040,nssv669367,nssv676136,nssv670301,nssv661007,nssv666273,nssv680419 M 2026 21 70 HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 esv1796189 1 12838151 12956666 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4423671 S 6 1 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 NA12239 dgv64e188 1 12838517 12860791 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1829836,esv1831792 M 6 0 2 PRAMEF1 NA15510 nsv821559 1 12839977 12893065 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421068 S 1 1 0 PRAMEF1,PRAMEF11 NA10851 dgv13n67 1 12839977 12909555 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828697,nsv828586 M 31 0 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 AK20,NA18969 nsv471539 1 12840259 12865371 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547951,nssv547949,nssv547950 M 3 3 0 PRAMEF1 esv28644 1 12840608 13052938 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15812,esv12552,esv21420,esv16950,esv13103,esv19152,esv20242,esv18407,esv15024,esv11323,esv13474,esv11373,esv11679,esv18833,esv16532 M 451 46 17 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv990214 1 12841807 12951075 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586626 S 3 1 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF4 HuRef dgv65e188 1 12841928 12927856 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1831669,esv1830280,esv1832849,esv1833372,esv1829823 M 6 0 5 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 NA15510 esv2421662 1 12841928 12971833 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5048343,essv5067055,essv5122668,essv5040953,essv5012238,essv5074962,essv5039373,essv5109345,essv5084483,essv5117560,essv5022261,essv5072990,essv5023516,essv5159266,essv5064090,essv5068309,essv5013828,essv5038349,essv5116223,essv5034347,essv5107947,essv5065514,essv5041350,essv5024400,essv5133462,essv5102044,essv5029580,essv5139478,essv5053532,essv5098485,essv5121017,essv5131081,essv5040928,essv5050218,essv5115604,essv5114531,essv5116203,essv5061766,essv5098165,essv5027197,essv5077663,essv5116865,essv5024352,essv5088719,essv5003555,essv5073546,essv5030453,essv5082781,essv5053293,essv5129922,essv5018496,essv5109453,essv5124804,essv5143438,essv5120396,essv5066353,essv5038935,essv5115549,essv5006338,essv5057726,essv5009132,essv5089177,essv5089601,essv5017667,essv5051593,essv5122638,essv5025654,essv5098033,essv5059824,essv5140420,essv5140930,essv5159736,essv5111327,essv5102257,essv5049008,essv5134010,essv5018867,essv5109420,essv5132926,essv5102370,essv5018478,essv5104297,essv5150257,essv5138370,essv5106036,essv5144838,essv5009774,essv5097924,essv5061594,essv5128528 M 1184 20 70 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 NA10838,NA10847,NA10853,NA11891,NA11918,NA12044,NA12344,NA12375,NA12383,NA12546,NA12718,NA12753,NA12763,NA12874,NA17962,NA17965,NA17974,NA17996,NA18109,NA18135,NA18144,NA18161,NA18555,NA18559,NA18593,NA18611,NA18614,NA18617,NA18622,NA18624,NA18702,NA18863,NA18923,NA18924,NA18925,NA18951,NA18955,NA18963,NA18965,NA18969,NA18981,NA18990,NA18991,NA19066,NA19083,NA19103,NA19236,NA19313,NA19334,NA19390,NA19436,NA19468,NA19681,NA19683,NA19720,NA19721,NA19747,NA19748,NA19770,NA19789,NA19908,NA19914,NA19915,NA19919,NA20337,NA20542,NA20810,NA20818,NA20828,NA20887,NA21088,NA21102,NA21111,NA21119,NA21144,NA21316,NA21317,NA21318,NA21364,NA21367,NA21381,NA21383,NA21414,NA21512,NA21519,NA21596,NA21635,NA21636,NA21740,NA21784 dgv66e188 1 12841928 13001928 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1817914,esv1795915,esv1793992,esv1801250,esv1799476,esv1796402,esv1800441,esv1795858,esv1817392,esv1802066,esv1798526,esv1808105,esv1795257 M 6 13 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA12239,NA18517,NA18576 nsv442270 1 12845863 12883096 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF1 dgv67e188 1 12845863 12888954 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1802934,esv1794877 M 6 2 0 PRAMEF1,PRAMEF11 NA12239 dgv68e188 1 12846105 12894428 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1825798,esv1832636,esv1827595,esv1828156,esv1830323,esv1826239 M 6 0 6 PRAMEF1,PRAMEF11 NA15510 nsv8768 1 12846155 13517588 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13429,nssv11772,nssv28033,nssv28543,nssv11783,nssv28042,nssv26904,nssv26897,nssv29278,nssv28540,nssv12105,nssv28555,nssv29263,nssv28923,nssv28947,nssv21451,nssv28932,nssv12092,nssv12099,nssv28937,nssv21427,nssv14083,nssv12763,nssv29271,nssv28928,nssv12422,nssv26901,nssv13428,nssv28032,nssv28560,nssv14093,nssv28554,nssv14423,nssv12111,nssv12435,nssv12108,nssv11771,nssv12773,nssv12450,nssv12103,nssv12094,nssv28943,nssv11762,nssv12120,nssv12101,nssv28041,nssv28945,nssv29262,nssv26880,nssv28043,nssv28553,nssv13763,nssv24622,nssv28545,nssv11782,nssv12107,nssv29274,nssv28056,nssv28941,nssv28557,nssv29258,nssv28039,nssv28936,nssv28938,nssv11790,nssv12754,nssv28934,nssv29277,nssv24616,nssv29265,nssv28927,nssv12112,nssv26891,nssv11778,nssv26899,nssv29253,nssv11766,nssv29259,nssv12433,nssv11769,nssv26890,nssv13753,nssv29256,nssv11770,nssv11774,nssv26898,nssv12096,nssv28935,nssv28040,nssv29267,nssv13439,nssv29275,nssv28539,nssv13093,nssv12441,nssv24599,nssv28551,nssv12439,nssv11763,nssv11779,nssv11764,nssv28920,nssv28036,nssv28939,nssv12113,nssv11791,nssv12767,nssv11777,nssv28050,nssv11776,nssv11781,nssv13099,nssv14429,nssv29268,nssv28531,nssv12429,nssv12769,nssv12121,nssv26881,nssv28544,nssv14099,nssv29266,nssv28053,nssv12438,nssv12443,nssv28049,nssv28047,nssv13084,nssv13433,nssv13414,nssv29257,nssv28933,nssv29249,nssv12780,nssv28035,nssv11775,nssv14074,nssv12437,nssv13109,nssv29261,nssv28948,nssv12093,nssv28541,nssv26878,nssv12424,nssv13769,nssv11780,nssv28919,nssv28550,nssv12109,nssv12752,nssv28547,nssv13423,nssv29250,nssv13744,nssv28549,nssv13103,nssv29264,nssv28944,nssv24598,nssv28559,nssv28931,nssv26895,nssv29269,nssv28051,nssv28546,nssv12779,nssv12426,nssv28556,nssv26883,nssv12765,nssv15113,nssv14753,nssv28929,nssv12768,nssv13098 M 31 138 38 Samples from several populations that are part of the HapMap project. HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv14n67 1 12846734 12920040 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829030,nsv828808 M 31 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 AK2,NA18997 esv32750 1 12846944 13142568 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101537,essv97562,essv101177,essv96818,essv100986,essv95060,essv98305,essv94766,essv101326,essv94423,essv96954,essv97952,essv95661,essv95436,essv93105,essv95313,essv97426,essv95868,essv94614,essv99068,essv92841,essv92784,essv96187,essv96690,essv97209,essv95999,essv93282,essv99649,essv92594,essv96441,essv99314,essv97675,essv100225,essv100556,essv100377,essv98419,essv96257 M 51 37 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 21603,21616,21618,21659,21693,21721,21772,21791,21805,21808,21817,21837,21841,21847,21863,21872,21879,21911,21932,21938,21939,21944,22007,22011,22075,22127,22170,22217,22233,22261,22275,22278,22286,22298,22300,22352,22371 dgv7338e59 1 12849232 12915794 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43412,esv43611 M 6 0 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 NA12891,NA12892 dgv69e188 1 12852748 12927856 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1798826,esv1797322,esv1802768,esv1793414,esv1793777,esv1798874,esv1803621,esv1792763 M 6 8 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 NA12239 dgv70e188 1 12852872 12880356 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1799626,esv1797869 M 6 2 0 PRAMEF1 NA12239 dgv15n67 1 12853692 12898164 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828919,nsv829141 M 31 0 2 PRAMEF1,PRAMEF11 AK6,NA18951 esv165638 1 12854164 12859163 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160528 S 185 0 24 Samples from several populations that are part of the HapMap project. PRAMEF1 NA07037,NA11894,NA12044,NA12763,NA12892,NA18498,NA18523,NA18555,NA18576,NA18582,NA18593,NA18603,NA18907,NA18947,NA18948,NA18949,NA18951,NA18965,NA18967,NA18974,NA18975,NA18976,NA18981,NA19209 dgv25e1 1 12856146 12923962 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9557,essv1080,essv1569,essv5619,essv2359,essv6560,essv973 M 271 0 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 NA18593,NA18624,NA18861,NA18981,NA18990,NA18995,NA18997 esv1829380 1 12856435 12870899 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4372099 S 6 0 1 PRAMEF1 NA15510 nsv438192 1 12860749 12868237 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468629,nssv468518 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19101,NA19103 dgv7n27 1 12860749 12880356 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467171,nsv467505,nsv467283,nsv467394 M 1557 0 4 "" HGDP00702,HGDP00999,HGDP01254,HGDP01269 nsv470696 1 12860749 12913895 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547704,nssv547707,nssv547706,nssv547708,nssv547705 M 443 5 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HNRNPCL1,LOC649330,PRAMEF11 HGDP00072,HGDP00560,HGDP00572,HGDP00714,HGDP01317 dgv8n27 1 12860749 12913896 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457773,nsv457885,nsv460095,nsv460173,nsv460206,nsv456551,nsv467616,nsv468727,nsv458662,nsv457551,nsv456885,nsv468838,nsv460184,nsv460250,nsv460017,nsv469393,nsv460128,nsv457440,nsv460284,nsv458773,nsv460139,nsv460050,nsv460306,nsv460006,nsv460161,nsv460228,nsv457996,nsv460195,nsv456218,nsv456107,nsv460295,nsv458551,nsv456996,nsv459218,nsv456329,nsv459107,nsv468616,nsv460028,nsv460073,nsv458996,nsv459551,nsv460261,nsv460150,nsv460217,nsv458329,nsv456662,nsv460084,nsv457662,nsv455774,nsv460117,nsv456440,nsv457329,nsv460317,nsv459440,nsv459329,nsv468505,nsv460039,nsv455996,nsv456774,nsv459662,nsv460339,nsv458107,nsv457218,nsv460328,nsv469171,nsv460239,nsv455885,nsv460062,nsv458884,nsv458440,nsv467727 M 1557 0 71 HNRNPCL1,LOC649330,PRAMEF11 1780854095_A,1780854216_A,1780854341_A,1780854357_A,1780854384_A,1780862015_A,1780862229_A,1780862250_A,1780862263_A,1780862346_A,1780862390_A,1780862574_A,1782681236_A,1782681287_A,1787431167_A,1798860277_A,HGDP00106,HGDP00169,HGDP00251,HGDP00267,HGDP00279,HGDP00285,HGDP00351,HGDP00364,HGDP00423,HGDP00694,HGDP00732,HGDP00748,HGDP00751,HGDP00780,HGDP00781,HGDP00791,HGDP00813,HGDP00856,HGDP00869,HGDP00896,HGDP00945,HGDP00950,HGDP00964,HGDP01003,HGDP01010,HGDP01191,HGDP01296,HGDP01306,HGDP01321,HGDP01330,HGDP01338,HGDP01352,HGDP01360,HGDP01361,HGDP01363,HGDP01368,HGDP01369,HGDP01372,HGDP01375,HGDP01400,NINDS_109,NINDS_117,NINDS_134,NINDS_182,NINDS_198,NINDS_219,NINDS_240,NINDS_253,NINDS_258,NINDS_266,NINDS_27,NINDS_50,NINDS_70,NINDS_83,NINDS_90 dgv9n27 1 12860749 12913896 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469282,nsv459884,nsv469060,nsv459939,nsv467838,nsv459973,nsv468949,nsv468171,nsv468394,nsv467949,nsv459773,nsv459984,nsv468282,nsv457107,nsv459962,nsv459951,nsv455663,nsv458218,nsv460272,nsv468060,nsv459995,nsv460106 M 1557 22 0 HNRNPCL1,LOC649330,PRAMEF11 1780846321_A,1780854128_A,1780854260_A,1780854261_A,1780854362_A,1780862085_A,1780862294_A,1780862487_A,1782681216_A,1798860565_A,HGDP00021,HGDP00072,HGDP00262,HGDP00560,HGDP00572,HGDP00714,HGDP01033,HGDP01103,HGDP01251,HGDP01317,HGDP01399,NINDS_208 nsv817728 1 12860749 12913896 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418245,nssv1418336,nssv1417408,nssv1417095,nssv1418244,nssv1418338 M 112 4 2 HNRNPCL1,LOC649330,PRAMEF11 NA10847,NA12239,NA18529,NA18951,NA19092,NA19094 dgv1n64 1 12865920 12913896 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818045,nsv817950,nsv817839 M 112 0 6 HNRNPCL1,LOC649330,PRAMEF11 NA10857,NA12044,NA12865,NA12874,NA18593,NA18965 dgv71e188 1 12865920 13001603 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1817993,esv1813367,esv1847650,esv1804472,esv1800842,esv1812942,esv1802959,esv1822139,esv1846475,esv1816408,esv1822538,esv1844445,esv1818767,esv1797583 M 6 14 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA12239,NA18517,NA18576,NA18980 dgv72e188 1 12867078 13159071 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1834118,esv1826973 M 6 0 2 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA10851,NA15510 nsv829252 1 12867134 12867736 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440800 S 31 0 1 "" NA18969 nsv2965 1 12870541 13185906 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10340,nssv3620,nssv5045,nssv9308 M 9 0 4 HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12878,NA18517,NA18956,NA19129 nsv829363 1 12870940 12872971 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440801 S 31 0 1 "" NA18969 esv43155 1 12871911 12994013 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37728 S 6 0 1 Samples from several populations that are part of the HapMap project. HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF7,PRAMEF8 NA19239 esv1063166 1 12876225 12876225 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300681 S 2 1 0 "" HuRef nsv7172 1 12879694 13377142 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7060,nssv5213,nssv5133,nssv10379,nssv6080,nssv5286,nssv11168,nssv9329,nssv10403,nssv2496,nssv9624,nssv7150,nssv382,nssv9625,nssv11101,nssv3714 M 9 0 0 HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv460350 1 12880153 12913896 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536942 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HNRNPCL1,LOC649330,PRAMEF11 HGDP00662 dgv73e188 1 12880153 12923962 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1833337,esv1830585 M 6 0 2 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 NA15510 esv1832614 1 12880153 12961027 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human1Mv1 DNA Analysis BeadChip essv4381677 S 6 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 NA15510 nsv433182 1 12880356 12961027 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463063 S 9 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 NA15510 dgv74e188 1 12883097 13018001 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1799890,esv1803158,esv1796353 M 6 3 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA12239 esv35613 1 12889164 12893963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114571 S 6 0 1 Samples from several populations that are part of the HapMap project. PRAMEF11 NA12878 nsv820528 1 12893066 13047331 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419881 S 1 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA10851 dgv75e188 1 12893153 12937599 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1840558,esv1832936,esv1837489,esv1827068,esv1837784,esv1835449,esv1833737 M 6 0 7 HNRNPCL1,LOC649330,PRAMEF2 NA10851,NA15510 nsv436469 1 12893250 12948757 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466583 S 2 0 1 Samples from several populations that are part of the HapMap project. HNRNPCL1,LOC649330,PRAMEF2,PRAMEF4 NA18505 esv39745 1 12894641 13183467 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv113086 S 6 0 1 Samples from several populations that are part of the HapMap project. HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12878 esv159885 1 12895164 12899763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv493357,essv471988,essv477224,essv435627,essv440391,essv473003,essv442808,essv456540,essv481262,essv467872,essv447703,essv473135,essv458193,essv459570,essv479874,essv453569,essv446407,essv473723,essv481503,essv443412,essv491102,essv455400,essv475172,essv470489,essv436875,essv490892,essv440331,essv449618,essv431370,essv464176,essv445330,essv454022,essv487521,essv488466,essv487987,essv433618,essv481662,essv473382,essv440785 M 185 0 39 Samples from several populations that are part of the HapMap project. "" NA07346,NA11920,NA12004,NA12044,NA12154,NA12155,NA12717,NA12763,NA12776,NA12891,NA12892,NA18498,NA18501,NA18502,NA18508,NA18510,NA18562,NA18582,NA18593,NA18603,NA18608,NA18853,NA18858,NA18912,NA18951,NA18959,NA18965,NA18968,NA18974,NA18975,NA18976,NA18981,NA19114,NA19131,NA19137,NA19152,NA19153,NA19204,NA19238 dgv76e188 1 12895175 12920734 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1805026,esv1843309,esv1843891,esv1848222 M 6 4 0 HNRNPCL1,LOC649330,PRAMEF2 NA18517,NA18980 esv166252 1 12897064 12901863 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv159997 S 185 0 21 Samples from several populations that are part of the HapMap project. "" NA06994,NA07347,NA10851,NA12044,NA12045,NA12489,NA12717,NA12763,NA18508,NA18523,NA18593,NA18853,NA18943,NA18944,NA18951,NA18953,NA18965,NA18981,NA19153,NA19200,NA19201 dgv16n67 1 12897764 12920188 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829437,nsv829459,nsv829426,nsv829448 M 31 7 0 HNRNPCL1,LOC649330,PRAMEF2 AK10,NA18526,NA18564,NA18570,NA18947,NA18949,NA18972 esv165548 1 12898046 12898323 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv165028,esv162557 M 185 0 14 Samples from several populations that are part of the HapMap project. "" NA18555,NA18563,NA18570,NA18573,NA18577,NA18579,NA18603,NA18609,NA18638,NA18952,NA18964,NA19005 nsv819147 1 12904000 13171318 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1418797 S 2 1 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 AK1 nsv821616 1 12904306 13711215 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421374,nssv1421363,nssv1421341,nssv1421179,nssv1421290,nssv1421352 M 31 6 0 HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 dgv77e188 1 12907350 12951774 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1841410,esv1835634,esv1839462,esv1837928,esv1836051 M 6 0 5 HNRNPCL1,LOC649330,PRAMEF2,PRAMEF4 NA10851 esv166200 1 12907964 12912663 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161419 S 185 0 37 Samples from several populations that are part of the HapMap project. HNRNPCL1,LOC649330 NA06994,NA07357,NA10851,NA11894,NA12044,NA12249,NA12489,NA12717,NA12763,NA12776,NA12813,NA12828,NA12878,NA18499,NA18501,NA18508,NA18511,NA18558,NA18582,NA18593,NA18942,NA18948,NA18951,NA18965,NA18967,NA18968,NA18980,NA18981,NA19098,NA19114,NA19129,NA19137,NA19152,NA19201,NA19204,NA19207,NA19209 esv1821034 1 12909155 12917604 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4372778 S 6 1 0 PRAMEF2 NA18576 nsv442514 1 12909237 12927107 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF2 esv43109 1 12909306 12958917 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv40642 S 6 0 1 Samples from several populations that are part of the HapMap project. PRAMEF10,PRAMEF2,PRAMEF4 NA12878 esv166368 1 12909364 12918363 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv159749 S 185 0 17 Samples from several populations that are part of the HapMap project. PRAMEF2 NA06994,NA10851,NA12044,NA12489,NA12717,NA12763,NA18501,NA18508,NA18571,NA18593,NA18951,NA18965,NA18973,NA18981,NA19114,NA19129,NA19153 esv1836869 1 12909965 12918079 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array essv4427076 S 6 0 1 PRAMEF2 NA10851 esv1841391 1 12910136 12937599 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4415263 S 6 0 1 PRAMEF2 NA10851 esv166273 1 12911037 13178743 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162893 S 185 0 6 Samples from several populations that are part of the HapMap project. PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA18542,NA18558,NA18573,NA18605,NA18608,NA18953 essv24011 1 12911096 12923962 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PRAMEF2 NA12873 dgv10n27 1 12911200 12913896 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460361,nsv460406,nsv460383,nsv460372,nsv460439,nsv460472,nsv460395,nsv460450,nsv460417,nsv460461,nsv460428 M 1557 0 11 "" HGDP00467,HGDP00541,HGDP00702,HGDP00832,HGDP00837,HGDP00846,HGDP00849,HGDP00876,HGDP00984,HGDP00995,HGDP00999 esv1836456 1 12911200 12923962 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human1Mv1 DNA Analysis BeadChip essv4380582 S 6 0 1 PRAMEF2 NA10851 dgv78e188 1 12912088 13011919 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1851100,esv1822756,esv1836137 M 6 3 0 PRAMEF10,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA10851,NA18576,NA18980 esv166027 1 12915964 12920763 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160400 S 185 0 44 Samples from several populations that are part of the HapMap project. PRAMEF2 NA06986,NA06994,NA07037,NA10851,NA11831,NA11832,NA11894,NA11993,NA11994,NA12044,NA12156,NA12489,NA12716,NA12717,NA12763,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18532,NA18552,NA18555,NA18558,NA18561,NA18593,NA18942,NA18943,NA18951,NA18956,NA18960,NA18965,NA18973,NA18981,NA19108,NA19114,NA19129,NA19152,NA19160,NA19225 esv1825262 1 12922857 12927377 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4397145 S 6 1 0 "" NA15510 esv1837111 1 12922857 12930731 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4394346 S 6 1 0 "" NA10851 esv1836566 1 12925066 12966445 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4394556 S 6 1 0 PRAMEF10,PRAMEF4 NA10851 esv37370 1 12932964 12936263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114064 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv43423 1 12936765 13052518 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39420 S 6 0 1 Samples from several populations that are part of the HapMap project. PRAMEF10,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA12878 esv37188 1 12942864 12946463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114423 S 6 0 1 Samples from several populations that are part of the HapMap project. PRAMEF4 NA12878 dgv79e188 1 12949793 12995652 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1810267,esv1813059,esv1802183 M 6 3 0 PRAMEF10,PRAMEF7,PRAMEF8 NA12239,NA18517 esv1846610 1 12972680 12993541 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4370829 S 6 1 0 PRAMEF7,PRAMEF8 NA18980 esv1830797 1 12980125 12984451 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4372533 S 6 1 0 PRAMEF7,PRAMEF8 NA15510 dgv80e188 1 12981060 12990243 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1831322,esv1833258 M 6 2 0 "" NA15510 dgv81e188 1 12983530 12993251 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1846408,esv1851293 M 6 2 0 "" NA18980 esv1821969 1 12989962 12993251 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4396805 S 6 1 0 "" NA18576 dgv82e188 1 12996438 13528388 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1795859,esv1793832 M 6 2 0 LOC440563,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA12239 nsv508902 1 12998039 13135946 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619771,nssv623773 M 4 2 0 PRAMEF22,PRAMEF5,PRAMEF6 NA10860,NA18994 nsv510936 1 12998039 13649130 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624358,nssv621649 M 4 0 0 LOC440563,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA15510,NA18994 esv1004322 1 12998381 13052998 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586195 S 3 1 0 PRAMEF22,PRAMEF6 HuRef esv165566 1 13007764 13047663 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv159613 S 185 0 38 Samples from several populations that are part of the HapMap project. PRAMEF22 NA06994,NA11993,NA11995,NA12043,NA12044,NA12156,NA12717,NA12751,NA12763,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18555,NA18561,NA18563,NA18564,NA18577,NA18592,NA18593,NA18940,NA18942,NA18945,NA18947,NA18948,NA18951,NA18952,NA18956,NA18959,NA18964,NA18965,NA18971,NA18973,NA18980,NA18981,NA19005 dgv7339e59 1 13008914 13042413 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43841,esv43383 M 6 0 2 PRAMEF22 NA12892,NA19238 nsv433183 1 13014884 13189824 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463064 S 9 0 1 Samples from several populations that are part of the HapMap project. LOC440563,PRAMEF22,PRAMEF5 NA19129 esv161482 1 13018964 13024363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv437051,essv490853,essv482758,essv462626,essv434953,essv429594,essv453155,essv491153,essv481569,essv489465,essv445763,essv481842,essv429651,essv452091,essv478876,essv435537,essv454845,essv482404,essv431806,essv476035,essv456888,essv477181,essv486129,essv436125,essv448033,essv483523,essv453673,essv441935,essv454203,essv475077,essv460080,essv435445,essv444975,essv447094,essv488674,essv449818,essv440096,essv437584,essv430057,essv437861,essv440683,essv430781,essv446635,essv490396,essv452540,essv451784,essv459562,essv440934,essv467137,essv458870,essv462233,essv473094,essv442568,essv443403,essv466883,essv471635,essv466386,essv430291,essv459856,essv432655,essv461076,essv473632,essv463897,essv449076,essv494157,essv469232,essv468481,essv430619,essv487820,essv472733,essv432082,essv465749,essv455244,essv445537,essv433726,essv457478,essv469636,essv450981,essv465546,essv494994,essv481189,essv469996,essv485229,essv493740,essv440433,essv445864 M 185 0 86 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07357,NA11830,NA11920,NA11993,NA11995,NA12043,NA12044,NA12156,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12751,NA12763,NA12892,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18517,NA18522,NA18537,NA18547,NA18550,NA18555,NA18561,NA18563,NA18564,NA18566,NA18577,NA18579,NA18582,NA18592,NA18593,NA18609,NA18638,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18942,NA18943,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18964,NA18965,NA18971,NA18972,NA18973,NA18974,NA18980,NA18981,NA19099,NA19102,NA19129,NA19131,NA19147,NA19153,NA19172,NA19190,NA19207,NA19209,NA19239,NA19240,NA19257 esv165569 1 13021464 13026363 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161480 S 185 0 70 Samples from several populations that are part of the HapMap project. "" NA07346,NA11920,NA11992,NA11993,NA11995,NA12003,NA12006,NA12156,NA12287,NA12489,NA12716,NA12749,NA12750,NA12763,NA12813,NA12891,NA12892,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18523,NA18526,NA18537,NA18542,NA18547,NA18550,NA18561,NA18563,NA18564,NA18566,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18608,NA18856,NA18870,NA18871,NA18909,NA18940,NA18942,NA18943,NA18945,NA18947,NA18948,NA18951,NA18952,NA18964,NA18965,NA18968,NA18973,NA18981,NA19005,NA19102,NA19129,NA19147,NA19159,NA19172,NA19190,NA19209,NA19238,NA19239,NA19240,NA19257 esv35864 1 13039614 13042213 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115048 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12892 esv161086 1 13043564 13048263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv452056,essv430614,essv469394,essv451140,essv435723,essv442156,essv486163,essv454749,essv469668,essv486860,essv479712,essv445362,essv464198,essv485951,essv453081,essv493818,essv442919,essv457521,essv448339,essv483288,essv482850,essv467369,essv442732,essv488685,essv465500,essv487896,essv438809,essv445662,essv430693,essv458853,essv453533,essv490736,essv471507,essv442587,essv446479,essv468224,essv488155,essv485308,essv430304,essv440908,essv489961,essv461494,essv443581,essv432719,essv482217,essv451973,essv481544,essv477974,essv481291,essv450426,essv441356,essv429969,essv473186,essv460107,essv495090,essv494287,essv441646,essv462673,essv470257,essv472912,essv446360,essv438176,essv455298,essv470591,essv444489,essv436480,essv457241,essv474642,essv456025,essv430063,essv481666,essv449790,essv437663,essv475809,essv482440,essv492901,essv440413,essv452504,essv468968,essv432950,essv432253,essv435367 M 185 0 82 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07357,NA10851,NA11830,NA11881,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12044,NA12045,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12717,NA12749,NA12828,NA12891,NA12892,NA18499,NA18505,NA18508,NA18511,NA18517,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18552,NA18555,NA18561,NA18563,NA18564,NA18570,NA18571,NA18576,NA18579,NA18582,NA18592,NA18603,NA18853,NA18856,NA18861,NA18909,NA18916,NA18942,NA18943,NA18945,NA18947,NA18948,NA18951,NA18953,NA18956,NA18964,NA18965,NA18971,NA18972,NA18973,NA18980,NA19005,NA19098,NA19099,NA19102,NA19108,NA19114,NA19129,NA19159,NA19172,NA19238,NA19239,NA19240,NA19257 dgv7340e59 1 13043964 13048613 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35245,esv35740 M 6 0 4 "" NA12891,NA12892,NA19239,NA19240 nsv821036 1 13047332 13052938 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419992 S 1 1 0 "" NA10851 esv35670 1 13048664 13052998 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115502 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv1010773 1 13102999 13124417 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586120 S 3 1 0 PRAMEF5 HuRef nsv820886 1 13103023 13148421 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420103 S 1 0 1 PRAMEF5 NA10851 esv27872 1 13103023 13219695 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12755,esv19008,esv13717,esv10927,esv20862,esv19236,esv13674,esv20553,esv19875,esv10209 M 451 16 10 LOC440563,PRAMEF5 NA11894,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12878,NA18517,NA18523,NA18858,NA18861,NA19099,NA19108,NA19129,NA19190,NA19225 esv1794422 1 13113727 13133588 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4392803 S 6 1 0 PRAMEF5 NA12239 esv165634 1 13116764 13143213 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160851 S 185 0 54 Samples from several populations that are part of the HapMap project. PRAMEF5 NA06994,NA11881,NA11993,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18959,NA18961,NA18964,NA18965,NA18971,NA18972,NA18974,NA18976,NA18980,NA18981,NA19005 esv35392 1 13119464 13142363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114456 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv165711 1 13123789 13126738 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160785 S 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv84e188 1 13123856 13785062 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1795514,esv1826990 M 6 2 0 LOC440563,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA12239,NA15510 esv159599 1 13125389 13128238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471662,essv475993,essv484891,essv461929,essv458794,essv464342,essv479786,essv491664 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37409 1 13125414 13133613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116088,essv115559 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 dgv1540e59 1 13128389 13131738 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160159,esv166267 M 185 0 16 "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36658 1 13141314 13143613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114638 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv17n67 1 13142545 13188170 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829481,nsv829492,nsv829470 M 31 6 0 LOC440563 AK4,AK8,NA18564,NA18566,NA18592,NA18947 esv1803921 1 13149373 13219601 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4423747 S 6 1 0 LOC440563 NA12239 nsv112 1 13159771 13162302 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv112 S 1 1 0 "" NA15510 nsv821333 1 13161724 13219695 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420214 S 1 1 0 LOC440563 NA10851 esv1803491 1 13173408 13177847 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4395191 S 6 1 0 "" NA12239 dgv7341e59 1 13178663 13187946 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv38826,esv39451 M 6 0 7 LOC440563 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv166397 1 13178949 13187661 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161945 S 185 0 51 Samples from several populations that are part of the HapMap project. LOC440563 NA06986,NA07037,NA07346,NA07347,NA10847,NA11881,NA11894,NA11931,NA12004,NA12005,NA12043,NA12763,NA12828,NA12878,NA18489,NA18498,NA18499,NA18501,NA18505,NA18507,NA18510,NA18517,NA18519,NA18532,NA18537,NA18545,NA18547,NA18550,NA18562,NA18571,NA18573,NA18576,NA18577,NA18582,NA18593,NA18856,NA18858,NA18871,NA18916,NA18942,NA18945,NA18948,NA18952,NA18956,NA18973,NA18980,NA19093,NA19102,NA19108,NA19137,NA19147 esv8453 1 13179085 13187572 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30894 S 1 0 1 LOC440563 SJK esv166492 1 13180491 13182548 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163734 S 185 0 4 Samples from several populations that are part of the HapMap project. "" NA07000,NA10851,NA11829,NA12762 esv36723 1 13181364 13183763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114422 S 6 0 1 Samples from several populations that are part of the HapMap project. LOC440563 NA12878 esv35642 1 13185364 13189063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114589 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv42694 1 13188307 13188582 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112648 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv43112 1 13201264 13203963 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv36220 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv987716 1 13211906 13219912 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586238 S 3 1 0 "" HuRef esv35488 1 13215064 13219912 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114570 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv1796710 1 13219601 13499049 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4423678 S 6 1 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA12239 esv1000242 1 13320001 13368854 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586500 S 3 1 0 PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6 HuRef dgv86e188 1 13320001 13388957 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1800797,esv1794811,esv1796489,esv1793732 M 6 4 0 PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8 NA12239 dgv87e188 1 13320001 13490472 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1797982,esv1797287 M 6 2 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA12239 esv25471 1 13320047 13499446 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12571,esv16485,esv12763,esv17976,esv17726,esv18444,esv18416,esv17055,esv15096,esv12877,esv20457,esv10590 M 451 37 23 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv36064 1 13320864 13321663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113709 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12891 nsv832981 1 13330166 13517412 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442807 S 95 0 1 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 esv43254 1 13337664 13354663 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv36432 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv1820843 1 13339415 13375749 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4395627 S 6 1 0 PRAMEF5,PRAMEF6 NA18576 nsv511155 1 13340066 13345819 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626055 S 1 0 1 "" 1 nsv821207 1 13347012 13429392 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420225 S 1 0 1 PRAMEF15,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA10851 dgv88e188 1 13352730 13456101 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1849093,esv1813226 M 6 2 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA18517,NA18980 esv43365 1 13361914 13375513 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37030 S 6 0 1 Samples from several populations that are part of the HapMap project. PRAMEF5,PRAMEF6 NA19239 dgv89e188 1 13365929 13422970 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1848473,esv1814928,esv1818836,esv1813094,esv1816524 M 6 5 0 PRAMEF15,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA18517,NA18576,NA18980 esv43290 1 13367889 13375588 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv35539 S 6 0 2 Samples from several populations that are part of the HapMap project. PRAMEF5,PRAMEF6 NA12878,NA12892 nsv483003 1 13372572 13557162 CNV Gain Iafrate et al 2004 15286789 BAC_aCGH,FISH Spectral Genomics 2600 BAC array nssv650778 M 0 2 Seven samples from cytogenetically abnormal individuals were obtained from the Brigham and Women's Cytogenetics Laboratory and 9 DNA samples, from individuals with defined karyotypic abnormalities, were obtained from whole blood samples from the Hospital for Sick Children. PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF8,PRAMEF9 dgv90e188 1 13374611 13402246 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1849513,esv1805368 M 6 2 0 PRAMEF8 NA18517,NA18980 esv1843192 1 13374687 13379878 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4414937 S 6 1 0 "" NA18980 dgv91e188 1 13374687 13382931 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1799477,esv1802938,esv1800724 M 6 3 0 "" NA12239 dgv7342e59 1 13383514 13421913 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35379,esv43709 M 6 0 4 PRAMEF15,PRAMEF8,PRAMEF9 NA12878,NA12891,NA12892,NA19240 esv161138 1 13390589 13393138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476254,essv458639,essv470727,essv461945,essv479961,essv464976,essv484938,essv491720 M 185 0 8 Samples from several populations that are part of the HapMap project. PRAMEF8 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1814055 1 13402246 13499049 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4422491 S 6 1 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF9 NA18517 esv1001235 1 13417051 13475340 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586342 S 3 1 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef esv43295 1 13419175 13419574 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38748 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv35205 1 13422364 13425663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114404 S 6 0 1 Samples from several populations that are part of the HapMap project. PRAMEF15,PRAMEF9 NA12878 esv36102 1 13424014 13443213 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115693 S 6 0 1 Samples from several populations that are part of the HapMap project. PRAMEF15,PRAMEF9 NA19240 esv160474 1 13433589 13436138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv459170,essv480219,essv461700,essv471307,essv464822,essv484359,essv475368,essv491404 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1795973 1 13439970 13450938 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4392551 S 6 1 0 PRAMEF13,PRAMEF14 NA12239 nsv442562 1 13444908 13468022 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF13,PRAMEF14 esv1751185 1 13468489 13468542 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633436 S 2 0 1 "" HuRef nsv8879 1 13520038 13532399 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28030 S 31 1 0 Samples from several populations that are part of the HapMap project. PRAMEF20,PRAMEF21 NA10847 esv43110 1 13536867 13537988 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38186 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 nsv8991 1 13546805 13749786 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15094,nssv12110,nssv14413,nssv12106,nssv12423,nssv12100,nssv13440,nssv12759,nssv15108,nssv13427,nssv12432,nssv14087,nssv28924,nssv13759,nssv13755,nssv12774,nssv12771,nssv12760,nssv14743,nssv13094,nssv12451,nssv16433,nssv13110,nssv14088,nssv12434,nssv12102,nssv13095,nssv29272,nssv14734,nssv13111,nssv13425,nssv12431,nssv14748,nssv14759,nssv13097,nssv12444,nssv13757,nssv12436,nssv12756,nssv13758,nssv11784,nssv12764,nssv14418,nssv15443,nssv11788,nssv16103,nssv14419,nssv12430,nssv13082,nssv28536,nssv15119,nssv12114,nssv14089,nssv28942,nssv15773,nssv11786,nssv12781,nssv28534,nssv12104,nssv13101,nssv13412,nssv28537,nssv12442,nssv11787,nssv28925,nssv29273,nssv14404 M 31 57 10 Samples from several populations that are part of the HapMap project. PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv508137 1 13551291 13772150 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618967 S 4 0 1 PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 NA10860 esv24967 1 13553987 13556868 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13012,esv20195 M 451 2 0 "" NA12878,NA18907 dgv93e188 1 13607168 13641135 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1851912,esv1799314 M 6 2 0 PRAMEF7,PRAMEF8 NA12239,NA18980 dgv94e188 1 13607168 13678517 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1845576,esv1805891,esv1812623 M 6 3 0 PRAMEF14,PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 NA18517,NA18980 dgv95e188 1 13607168 13723095 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1801894,esv1796982,esv1801704,esv1798243,esv1800602 M 6 5 0 PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF7,PRAMEF8,PRAMEF9 NA12239 nsv820708 1 13607202 13653136 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420236 S 1 0 1 PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 NA10851 esv29915 1 13607202 13723120 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16388,esv10843,esv15458,esv16637,esv14244,esv11807 M 451 34 6 PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF7,PRAMEF8,PRAMEF9 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv161356 1 13611389 13614238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476324,essv480383,essv464981,essv461620,essv485703,essv458661,essv492573,essv471688 M 185 0 8 Samples from several populations that are part of the HapMap project. PRAMEF8 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1850547 1 13617161 13638186 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4371684 S 6 1 0 "" NA18980 esv987523 1 13636959 13696564 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586687 S 3 1 0 PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef esv36741 1 13645614 13664213 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113827 S 6 0 1 Samples from several populations that are part of the HapMap project. PRAMEF15,PRAMEF9 NA12891 esv161397 1 13654389 13657238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484937,essv461352,essv470861,essv464743,essv459376,essv479707,essv476217,essv492340 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36157 1 13658764 13664363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115660 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv1800579 1 13677354 13685686 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4391435 S 6 1 0 "" NA12239 esv36024 1 13682964 13687863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114051 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv35467 1 13686564 13690863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113520 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12891 esv35565 1 13692414 13737713 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113777 S 6 0 1 Samples from several populations that are part of the HapMap project. PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20 NA12891 dgv7343e59 1 13692514 13782263 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36606,esv36230 M 6 0 5 PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21 NA12878,NA12892,NA19238,NA19239,NA19240 esv160685 1 13692914 13774413 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv435736,essv473944,essv450723,essv469231,essv477900,essv477053,essv467305,essv436712,essv477256,essv494628,essv472875,essv457331,essv454777,essv481853,essv431120,essv462386,essv486818,essv488914,essv460444,essv429308,essv478205,essv450121,essv442307,essv495287,essv446742,essv444862,essv490799,essv458058,essv439087,essv466202,essv443831,essv483879,essv443053,essv456256,essv434356,essv484425,essv455825,essv491648,essv432859,essv493922,essv480779,essv447610,essv453085,essv434091,essv463735,essv483665,essv441978,essv470044,essv489565,essv437009,essv465752,essv432548,essv448407,essv439837,essv454346,essv479121,essv431410,essv463352,essv472341,essv493075,essv487411,essv474947,essv468756,essv449017,essv438464 M 185 0 65 Samples from several populations that are part of the HapMap project. PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv36948 1 13736214 13775013 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113719 S 6 0 1 Samples from several populations that are part of the HapMap project. PRAMEF20,PRAMEF21 NA12891 esv43734 1 13756694 13778956 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37091 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv9102 1 13762482 13782195 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13441,nssv13431,nssv13770,nssv12762,nssv15449 M 31 1 4 Samples from several populations that are part of the HapMap project. "" NA18502,NA18860,NA19173,NA19221,NA19240 esv27160 1 13774084 13777459 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17463 S 451 0 4 "" NA18523,NA18858,NA19240,NA19257 nsv829503 1 13774117 13774919 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425488 S 31 1 0 "" AK4 esv2421816 1 13775026 13776828 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5093159,essv5088842,essv5154357,essv5146662,essv5153639,essv5113322,essv5078655,essv5112792,essv5062851,essv5085452,essv5113890,essv5153368,essv5136291,essv5059200,essv5130030,essv5156754,essv5124207,essv5054861,essv5141839,essv5022297,essv5068630,essv5116299,essv5113231,essv5089820,essv5081621,essv5030554,essv5130132,essv5003662,essv5140759,essv5152519,essv5070195,essv5149288,essv5148013,essv5029052,essv5089793,essv5074912,essv5119297,essv5115799,essv5008201,essv5154171,essv5087732,essv5104141,essv5053308,essv5133703,essv5152549,essv5020433,essv5037812,essv5115047,essv5054130,essv5101907,essv5130729,essv5037910,essv5160977,essv5101761,essv5019707,essv5154618,essv5052409,essv5078647,essv5103764,essv5122714,essv5058297,essv5119368,essv5084227,essv5138283,essv5119113,essv5038344,essv5063651,essv5159320,essv5057582,essv5145851,essv5040208,essv5014986,essv5055935,essv5043697,essv5012309,essv5047739,essv5129509,essv5113057,essv5051994 M 1184 0 79 "" NA12340,NA18486,NA18497,NA18498,NA18500,NA18515,NA18516,NA18520,NA18858,NA18860,NA18910,NA19027,NA19028,NA19095,NA19097,NA19107,NA19109,NA19117,NA19137,NA19153,NA19154,NA19172,NA19173,NA19174,NA19197,NA19199,NA19206,NA19209,NA19210,NA19211,NA19239,NA19240,NA19257,NA19258,NA19307,NA19321,NA19381,NA19382,NA19403,NA19429,NA19438,NA19449,NA19451,NA19452,NA19463,NA19466,NA19468,NA19471,NA19474,NA20282,NA20297,NA20301,NA20332,NA20335,NA20348,NA20521,NA20768,NA20796,NA20799,NA20894,NA20906,NA21344,NA21359,NA21366,NA21381,NA21383,NA21399,NA21401,NA21402,NA21404,NA21405,NA21473,NA21520,NA21596,NA21608,NA21614,NA21616,NA21686,NA21740 esv161699 1 13776114 13781813 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv450018,essv475090,essv432428,essv431365,essv433823,essv436436,essv469896,essv457872,essv487375,essv448818,essv440006,essv472992,essv457098,essv485248,essv453027,essv494526,essv444863,essv490601,essv467592,essv480917,essv478526,essv481975,essv477970,essv444028,essv434355,essv456469,essv495533,essv443243,essv484074,essv466713,essv429616,essv460504,essv468579,essv454088,essv448025,essv431719,essv486769,essv465635,essv489384,essv469024,essv454605,essv462664,essv477196,essv492317,essv455703,essv493944,essv476815,essv437404,essv450665,essv488793,essv441486,essv464215,essv446614,essv433073,essv435803,essv438517,essv474200,essv442457 M 185 0 58 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18971,NA18973,NA18974,NA18980,NA18981,NA19005 esv36987 1 13776714 13782213 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115134,essv113155,essv113863,essv114080 M 6 0 4 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv2504117 1 13796339 13796930 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5309749 S 1 1 0 "" NA18507 nsv833092 1 13804919 13963924 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442818,nssv1442829 M 95 0 2 LRRC38,PDPN nsv518971 1 13806039 13816121 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696439 S 2026 0 1 LRRC38 esv42305 1 13827894 13828192 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111831 S 6 0 1 Samples from several populations that are part of the HapMap project. LRRC38 NA12878 esv161610 1 13838889 13841738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475891,essv491700,essv465408,essv462304,essv458414,essv470827,essv485048,essv479473 M 185 0 8 Samples from several populations that are part of the HapMap project. LRRC38 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36307 1 13839314 13841513 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114067 S 6 0 1 Samples from several populations that are part of the HapMap project. LRRC38 NA12878 esv2376333 1 13848507 13848866 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939438 S 1 0 1 "" NA18507 esv1009061 1 13848607 13848607 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3570627 S 3 1 0 "" HuRef esv35346 1 13853464 13855363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114932 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv166380 1 13854115 13854449 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163347 S 185 0 67 Samples from several populations that are part of the HapMap project. "" NA10851,NA11931,NA12004,NA12006,NA12045,NA12144,NA12287,NA12878,NA18489,NA18499,NA18502,NA18505,NA18508,NA18511,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18572,NA18573,NA18576,NA18577,NA18593,NA18603,NA18608,NA18609,NA18858,NA18870,NA18909,NA18943,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18965,NA18967,NA18974,NA19093,NA19098,NA19099,NA19108,NA19116,NA19119,NA19129,NA19138,NA19144,NA19147,NA19160,NA19171,NA19207,NA19257 esv41156 1 13854141 13854425 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111431 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv165174 1 13876453 13876966 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv543885 S 185 0 1 Samples from several populations that are part of the HapMap project. "" NA18861 esv2417844 1 13894317 13894768 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564737 S 1 0 1 "" NA18507 dgv7344e59 1 13894327 13894715 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39289,esv38008 M 6 0 3 "" NA19238,NA19240 esv166572 1 13894361 13894684 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163798 S 185 0 8 Samples from several populations that are part of the HapMap project. "" NA18489,NA18505,NA18522,NA18870,NA18871,NA19102,NA19116,NA19138 nsv460483 1 13903715 13916997 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537046 S 1557 0 1 PDPN 1780854159_A esv43428 1 13931646 13931707 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38967,esv42756,esv41535 M 6 0 4 Samples from several populations that are part of the HapMap project. PDPN NA12878,NA12891 esv270520 1 13939991 13940348 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502129,essv2511920,essv2504204,essv2505998,essv2493308,essv2510686,essv2510822,essv2501024 M 157 8 0 Samples from several populations that are part of the HapMap project. PDPN NA18499,NA18501,NA18504,NA18505,NA18523,NA18856,NA19116,NA19257 esv162214 1 13939999 13940051 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv560472,essv561996,essv566849,essv558512,essv565845,essv551696,essv557842,essv565744 M 185 0 8 Samples from several populations that are part of the HapMap project. PDPN NA18499,NA18501,NA18504,NA18505,NA18523,NA18856,NA19116,NA19257 nsv3076 1 13954193 13984534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv474 S 9 1 0 "" NA19240 nsv528139 1 13973250 13989227 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704685 S 2026 0 1 "" esv40538 1 13973267 13973790 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111895 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv40094 1 13981373 13981689 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111054 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv1349671 1 13984919 13984919 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353969 S 2 1 0 "" HuRef nsv523568 1 13992069 14004623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699350 S 2026 0 1 "" nsv3187 1 13992339 14037646 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7852 S 9 0 1 PRDM2 NA12156 esv36994 1 14025939 14028138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115176,essv114865 M 6 0 2 Samples from several populations that are part of the HapMap project. PRDM2 NA12878,NA12892 esv40116 1 14027425 14027932 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112236 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM2 NA12878 esv42674 1 14035682 14035959 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111030 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM2 NA12878 esv1800786 1 14070097 14118119 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array essv4426782 S 6 0 1 PRDM2 NA12239 esv161445 1 14074789 14077738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471846,essv480180,essv476472,essv461819,essv464252,essv484677,essv458892,essv492506 M 185 0 8 Samples from several populations that are part of the HapMap project. PRDM2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37183 1 14075114 14077313 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116002 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM2 NA19239 esv42466 1 14135348 14135667 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111679 S 6 0 1 Samples from several populations that are part of the HapMap project. PRDM2 NA12878 esv165040 1 14147656 14147818 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv548051,essv542282 M 185 0 2 Samples from several populations that are part of the HapMap project. PRDM2 NA19108,NA19114 dgv96e188 1 14161251 14166955 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1806378,esv1807325 M 6 0 2 "" NA18517 esv22539 1 14163040 14167016 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16966,esv19106 M 451 0 10 "" NA18505,NA18511,NA18517,NA18858,NA18907,NA18909,NA19099,NA19147,NA19225,NA19257 esv165966 1 14163094 14167002 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163002,esv163291,esv163108,esv164800 M 185 0 22 Samples from several populations that are part of the HapMap project. "" NA18505,NA18511,NA18517,NA18858,NA18871,NA18907,NA19093,NA19099,NA19137,NA19147,NA19171,NA19225,NA19257 dgv97e188 1 14163314 14166955 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1809068,esv1807839,esv1804413,esv1810914,esv1810516,esv1809155,esv1807127,esv1815000,esv1808962,esv1808312,esv1807537 M 6 0 11 "" NA18517 esv1805267 1 14164286 14190669 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4387270 S 6 0 1 "" NA18517 nsv508007 1 14184921 14190921 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621465,nssv618491 M 4 0 2 "" CHM,NA15510 nsv516549 1 14208488 14209336 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669085,nssv690011 M 2026 0 2 "" nsv516435 1 14284460 14286464 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681150,nssv683301,nssv668340 M 2026 0 3 "" esv35099 1 14294605 14370368 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979949,essv6986978 M 771 1 0 "" NA18863 esv24677 1 14295319 14295827 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16259 S 451 0 1 "" NA19257 dgv26e1 1 14305082 14372400 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9545,essv11300,esv1095 M 271 0 0 "" NA18861,NA18863 esv42418 1 14305928 14306305 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111476 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv37518 1 14306514 14308963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114935 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv27027 1 14311609 14371586 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13313 S 451 1 0 "" NA18861 nsv524444 1 14313480 14371175 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700376 S 2026 1 0 "" nsv517840 1 14331940 14337844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695245 S 2026 0 1 "" esv1011257 1 14340834 14349546 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3563991 S 3 0 1 "" HuRef esv40621 1 14408175 14408629 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112379 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2573663 1 14436092 14439233 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5360365 S 1 0 1 "" NA18507 nsv819952 1 14436093 14438830 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1419473 S 2 0 1 "" AK1 nsv829514 1 14436261 14436764 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431794 S 31 0 1 "" AK20 esv270235 1 14436283 14436485 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509519,essv2497116,essv2496486,essv2511449,essv2503604,essv2497288,essv2501390,essv2499721,essv2507862,essv2493069,essv2508300,essv2502516,essv2508440,essv2493382,essv2509677,essv2498301,essv2504784,essv2500052,essv2511639,essv2503314,essv2495048,essv2509972,essv2504521,essv2497750,essv2507423,essv2501622,essv2507109,essv2494717,essv2495147,essv2503738,essv2494540,essv2501176,essv2499321,essv2495758,essv2512440,essv2493549,essv2500085,essv2513178,essv2494465,essv2508702,essv2508926,essv2505102,essv2498982,essv2507498,essv2512691,essv2507683,essv2503037,essv2498673,essv2505681,essv2510523 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA11920,NA11995,NA12043,NA12249,NA12750,NA12776,NA18501,NA18507,NA18508,NA18510,NA18516,NA18519,NA18522,NA18526,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18605,NA18608,NA18638,NA18870,NA18912,NA18940,NA18951,NA18960,NA18964,NA19005,NA19093,NA19099,NA19114,NA19129,NA19137,NA19138,NA19225 esv166040 1 14436293 14438239 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164318 S 185 0 6 Samples from several populations that are part of the HapMap project. "" NA12155,NA12414,NA18508,NA18570,NA18593,NA18947 esv22693 1 14436311 14438948 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17238 S 451 0 21 "" NA11931,NA12044,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA19099,NA19114,NA19129,NA19147,NA19225,NA19240 esv165619 1 14436351 14436655 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163351,esv161903,esv162339,esv164738,esv164155 M 185 0 105 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA11881,NA11931,NA11995,NA12043,NA12044,NA12144,NA12154,NA12155,NA12249,NA12749,NA12750,NA12828,NA18486,NA18501,NA18505,NA18511,NA18523,NA18526,NA18545,NA18547,NA18550,NA18552,NA18558,NA18561,NA18563,NA18570,NA18573,NA18576,NA18577,NA18579,NA18592,NA18603,NA18638,NA18861,NA18870,NA18940,NA18942,NA18947,NA18949,NA18953,NA18956,NA18959,NA18960,NA18965,NA18968,NA18972,NA18973,NA18975,NA18976,NA19005,NA19098,NA19099,NA19114,NA19116,NA19119,NA19129,NA19137,NA19138,NA19147,NA19153,NA19210,NA19225,NA19238 esv43605 1 14436351 14436655 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39258,esv42323,esv40449 M 6 0 5 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv98e188 1 14436368 14438897 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1839748,esv1835419,esv1849363,esv1811514,esv1835367,esv1835716,esv1851838,esv1845693,esv1805784,esv1809933,esv1806673,esv1844171 M 6 12 0 "" NA10851,NA18517,NA18980 dgv7345e59 1 14436978 14438939 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43156,esv43376 M 6 0 11 "" NA19238,NA19240 esv3429 1 14437040 14439028 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25870 S 1 0 1 Single Asian sample YH "" YH dgv18n67 1 14437049 14438114 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829537,nsv829525 M 31 0 2 "" NA18547,NA18949 nsv829548 1 14437049 14438804 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440119,nssv1432529,nssv1437928,nssv1423396,nssv1422359,nssv1423109,nssv1433411,nssv1423945,nssv1431058,nssv1423978,nssv1434158,nssv1432008,nssv1431795,nssv1430332,nssv1428816,nssv1421444,nssv1426373,nssv1440802,nssv1434861,nssv1436328 M 31 0 20 "" AK12,AK16,AK18,AK20,AK6,NA18526,NA18542,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 esv166433 1 14437073 14438939 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163201,esv162007,esv161571,esv162294,esv164246,esv159789 M 185 0 260 Samples from several populations that are part of the HapMap project. "" NA06986,NA06994,NA07000,NA07051,NA07346,NA10847,NA11830,NA11831,NA11832,NA11881,NA11920,NA11931,NA11994,NA11995,NA12005,NA12043,NA12044,NA12144,NA12154,NA12155,NA12249,NA12287,NA12414,NA12489,NA12749,NA12750,NA12776,NA12813,NA12828,NA18501,NA18505,NA18507,NA18508,NA18510,NA18511,NA18519,NA18522,NA18523,NA18526,NA18532,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18853,NA18858,NA18861,NA18870,NA18912,NA18940,NA18942,NA18947,NA18949,NA18951,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18968,NA18972,NA18973,NA18974,NA18975,NA18976,NA19005,NA19093,NA19098,NA19099,NA19114,NA19119,NA19129,NA19137,NA19138,NA19147,NA19153,NA19159,NA19200,NA19201,NA19207,NA19210,NA19225,NA19238,NA19240,NA19257 esv6543 1 14437081 14438939 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28984 S 1 0 1 "" SJK dgv99e188 1 14437153 14438897 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1814637,esv1805514,esv1809734,esv1835888,esv1843134,esv1809975,esv1845647 M 6 7 0 "" NA10851,NA18517,NA18980 esv43438 1 14438214 14438975 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39308 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv42803 1 14497177 14497278 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv122900 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv528033 1 14541312 14546009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704564 S 2026 0 1 "" esv41934 1 14635417 14635847 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110761 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv460494 1 14676909 14703854 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537055 S 1557 0 1 "" 1780862466_A nsv520614 1 14677729 14678726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697519 S 2026 0 1 "" nsv518697 1 14677729 14688707 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696148 S 2026 0 1 "" nsv833203 1 14679200 14720939 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442840,nssv1442896,nssv1442885,nssv1442918,nssv1442907,nssv1442852,nssv1442929,nssv1442874,nssv1442940,nssv1442863 M 95 5 5 "" esv165752 1 14731113 14734654 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162828,esv165109,esv163451 M 185 0 3 Samples from several populations that are part of the HapMap project. "" NA12761 esv36396 1 14737964 14741038 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114026,essv115424 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv2617537 1 14738502 14740043 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5289167 S 1 0 1 "" NA18507 esv159581 1 14806189 14808738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475488,essv491314,essv458689,essv470834,essv461483,essv485069,essv465439,essv479343 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35590 1 14806364 14808463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114402 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160971 1 14806814 14808063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv465983,essv474828,essv460720,essv437141,essv451052,essv442376,essv470035,essv469305,essv478375,essv481027,essv477007,essv472280,essv479242,essv473922,essv462793,essv481794,essv448210,essv457258,essv449052,essv493971,essv472558,essv431424,essv494873,essv467447,essv447650,essv486371,essv431159,essv495691,essv457683,essv484325,essv439082,essv490388,essv446749,essv466454,essv443991,essv445171,essv483850,essv443088,essv456516,essv434605,essv478125,essv436312,essv488824,essv439970,essv468452,essv433925,essv429075,essv433267,essv489437,essv463357,essv441541,essv454301,essv493183,essv453127,essv432494,essv450029,essv487396,essv492482,essv438769,essv455678 M 185 0 60 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18973,NA18975,NA18976,NA18980,NA18981,NA19005 esv37986 1 14817894 14820398 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123057 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv512719 1 14819175 14819225 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625344 S 1 1 0 "" 1 esv36928 1 14839964 14842088 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116206,essv114481 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA19239 esv1086173 1 14841005 14841005 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139423 S 2 1 0 "" HuRef nsv833314 1 14899155 15068876 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442951 S 95 0 1 KAZN nsv460506 1 14907214 14981920 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537067 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KAZN HGDP00554 nsv3298 1 14912307 14939486 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7914 S 9 1 0 KAZN NA12156 nsv470697 1 14960173 15044796 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547709 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KAZN HGDP00890 esv163502 1 14963406 14963748 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv500469,essv537685 M 185 0 2 Samples from several populations that are part of the HapMap project. KAZN NA11831,NA11993 esv2637393 1 14978582 14979561 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5269600 S 1 1 0 KAZN NA18507 esv1497348 1 14979008 14979008 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929982 S 2 1 0 KAZN HuRef esv161557 1 15051964 15056163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv467951,essv437625,essv434681,essv466464,essv463903,essv493171,essv439936,essv455707,essv433517,essv446293,essv474813,essv442858,essv448177,essv442386,essv459954,essv440763,essv444842,essv442685,essv463552,essv484321,essv453510,essv484108,essv490238,essv466964,essv444366,essv441846,essv437129,essv447164,essv468978,essv482886,essv452692,essv465733,essv485988,essv434004,essv429714,essv450058,essv469784,essv457382,essv489209 M 185 0 39 Samples from several populations that are part of the HapMap project. KAZN NA06994,NA11894,NA11995,NA12043,NA12144,NA12156,NA12716,NA12751,NA12878,NA12891,NA18505,NA18507,NA18520,NA18523,NA18545,NA18573,NA18577,NA18593,NA18603,NA18907,NA18916,NA18942,NA18947,NA18948,NA18951,NA18953,NA18968,NA18971,NA18973,NA18980,NA18981,NA19005,NA19098,NA19119,NA19137,NA19190,NA19200,NA19209,NA19239 esv40743 1 15086586 15086817 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111526 S 6 0 1 Samples from several populations that are part of the HapMap project. KAZN NA12878 esv8986 1 15113608 15113688 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31427 S 1 1 0 KAZN SJK esv41272 1 15132039 15132311 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110723 S 6 0 1 Samples from several populations that are part of the HapMap project. KAZN NA19240 esv42637 1 15191005 15191203 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111670 S 6 0 1 Samples from several populations that are part of the HapMap project. KAZN NA12878 esv159994 1 15192364 15196663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv446332,essv443532,essv477407,essv490108,essv493729,essv442815,essv451717,essv464766,essv435269,essv473258,essv470614,essv472163,essv438117,essv483351,essv439456 M 185 0 15 Samples from several populations that are part of the HapMap project. KAZN NA10851,NA11832,NA11920,NA12003,NA12813,NA12828,NA18523,NA18566,NA18603,NA18853,NA18960,NA18972,NA18974,NA18976,NA19159 dgv7346e59 1 15194389 15194521 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv40377,esv40905,esv42800 M 6 0 3 KAZN NA12878,NA19240 esv40728 1 15194402 15194586 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112525 S 6 0 1 Samples from several populations that are part of the HapMap project. KAZN NA12878 esv1214811 1 15194463 15194463 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234331 S 2 1 0 KAZN HuRef esv42691 1 15194497 15194756 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110493 S 6 0 1 Samples from several populations that are part of the HapMap project. KAZN NA19240 esv1798511 1 15238041 15349651 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4421731 S 6 0 1 KAZN NA12239 esv160909 1 15248864 15253063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv488454,essv438200,essv447040,essv465321,essv463344,essv486824,essv444529,essv444657,essv446426,essv472866,essv462582,essv435226,essv451180,essv455751,essv467781,essv494030,essv468769,essv453742,essv451015,essv477449,essv432393,essv473876,essv437488,essv449158,essv451528,essv452353,essv470701,essv437248,essv429844,essv490925,essv473355,essv433494,essv433889,essv489675,essv435684,essv470108,essv478423,essv457118,essv460105,essv492404,essv439213,essv488085,essv430680,essv437960,essv444115,essv452410,essv473688,essv441093,essv468144,essv478058,essv451933,essv456434,essv491173,essv481512,essv459515,essv459972,essv482186,essv445596,essv466928,essv475179,essv488122,essv484552,essv479939,essv481312,essv460887,essv455470,essv453506,essv462207,essv473160,essv447859,essv443567,essv446106,essv458989,essv484138,essv466998,essv450423,essv439557,essv483039,essv440357,essv430105,essv494605,essv446264,essv474325,essv429712,essv475395,essv471934,essv482786,essv455172,essv476943,essv445817,essv488931,essv431033,essv436775,essv433674,essv438824,essv451554,essv463748,essv430466,essv465514,essv434920,essv452762,essv429269,essv454959,essv431758,essv449664,essv435488,essv489221,essv467626,essv469746,essv449453,essv445536,essv487558,essv466077,essv487493,essv474700,essv445256,essv482568,essv447228,essv448492,essv453165,essv458185,essv441373,essv432892,essv493621,essv459815,essv495064,essv483508,essv453930 M 185 0 128 Samples from several populations that are part of the HapMap project. KAZN NA06986,NA06994,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11832,NA11881,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12045,NA12154,NA12155,NA12249,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12813,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18507,NA18510,NA18511,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18593,NA18605,NA18608,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18909,NA18912,NA18940,NA18945,NA18947,NA18949,NA18951,NA18953,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19093,NA19098,NA19102,NA19119,NA19129,NA19131,NA19137,NA19138,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19209,NA19238,NA19239,NA19240,NA19257 esv35733 1 15249864 15252163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114795,essv116051,essv115376 M 6 0 3 Samples from several populations that are part of the HapMap project. KAZN NA12878,NA19239,NA19240 nsv820102 1 15256262 15261328 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1419679 S 2 1 0 KAZN AK1 esv166430 1 15259862 15260063 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164813 S 185 0 3 Samples from several populations that are part of the HapMap project. KAZN NA19099,NA19138,NA19147 esv23718 1 15274921 15279573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11412 S 451 0 1 KAZN NA19099 nsv441681 1 15276484 15279296 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KAZN esv165171 1 15284843 15284902 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv542454,essv548209 M 185 0 2 Samples from several populations that are part of the HapMap project. KAZN NA06986,NA18964 esv163917 1 15304857 15305128 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528572,essv541022,essv537488 M 185 0 3 Samples from several populations that are part of the HapMap project. KAZN NA11831,NA11919,NA11931 dgv1541e59 1 15326511 15327712 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv163620,esv162679,esv165938 M 185 0 13 KAZN NA11831,NA12154,NA18505,NA18520,NA19108,NA19153,NA19190 esv27978 1 15326675 15327295 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13462 S 451 0 1 KAZN NA19190 nsv520075 1 15341055 15341413 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697211 S 2026 0 1 KAZN nsv527648 1 15341055 15343094 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704119 S 2026 0 1 KAZN nsv517844 1 15341055 15344403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695248 S 2026 0 1 KAZN nsv521566 1 15343094 15347363 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698183 S 2026 1 0 KAZN esv22036 1 15364967 15365622 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11732 S 451 0 1 KAZN NA12776 esv1011013 1 15365289 15365398 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3577254 S 3 0 1 KAZN HuRef esv1748933 1 15365291 15365401 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823225 S 2 0 1 KAZN HuRef esv1186245 1 15365439 15365439 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944374 S 2 1 0 KAZN HuRef esv2313486 1 15375023 15375435 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985131 S 1 0 1 KAZN NA18507 nsv833425 1 15409826 15618224 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442963 S 95 1 0 C1orf126,FHAD1,KAZN,TMEM51 esv42224 1 15410452 15411021 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111635 S 6 0 1 Samples from several populations that are part of the HapMap project. KAZN NA12878 nsv508913 1 15418886 15491957 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619772 S 4 1 0 C1orf126,KAZN,TMEM51 NA10860 esv161148 1 15434164 15438963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv451491,essv447580,essv451582,essv459777,essv465342,essv437918,essv490186,essv431021,essv444365,essv486438,essv470627,essv472157,essv437463,essv439950,essv489211,essv483314,essv454347 M 185 0 17 Samples from several populations that are part of the HapMap project. C1orf126,KAZN NA06986,NA11832,NA12750,NA12828,NA18520,NA18542,NA18562,NA18853,NA18871,NA18953,NA18959,NA18960,NA18972,NA18975,NA18976,NA18981,NA19098 esv2618588 1 15436764 15436830 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5193142 S 1 0 1 KAZN NA18507 esv22618 1 15456143 15461008 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15067 S 451 0 1 C1orf126 NA18502 esv160689 1 15478889 15481738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492726,essv480514,essv458981,essv471510,essv464898,essv485687,essv462256,essv475702 M 185 0 8 Samples from several populations that are part of the HapMap project. C1orf126,TMEM51 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv163178 1 15481748 15482092 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv500553,essv511808,essv523492 M 185 0 3 Samples from several populations that are part of the HapMap project. TMEM51 NA11920,NA12154,NA12155 nsv437203 1 15487444 15490324 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467084 S 60 0 1 Samples from several populations that are part of the HapMap project. TMEM51 NA19103 nsv441682 1 15489185 15490286 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TMEM51 nsv519926 1 15489817 15489884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689561,nssv659518,nssv690383,nssv687857 M 2026 0 4 TMEM51 esv165034 1 15490092 15490158 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv428714 S 185 0 1 Samples from several populations that are part of the HapMap project. TMEM51 NA12873 esv42597 1 15490092 15490158 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv113015 S 6 0 1 Samples from several populations that are part of the HapMap project. TMEM51 NA12878 esv271128 1 15490102 15490187 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517814,essv2516145 M 157 2 0 Samples from several populations that are part of the HapMap project. TMEM51 NA12873,NA12878 esv273758 1 15490102 15490187 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581422 S 7 1 0 Samples from several populations that are part of the HapMap project. TMEM51 NA12878 nsv159446 1 15500879 15510662 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178024 M 24 TMEM51 nsv460550 1 15518792 15550525 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537098 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TMEM51 HGDP00863 esv2750811 1 15530260 15550525 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981606,essv6981605,essv6985613 M 771 1 0 TMEM51 BEC_304 esv2621292 1 15550989 15551990 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5251821 S 1 1 0 "" NA18507 esv2423211 1 15557232 15559147 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5345612 S 1 0 1 "" NA18507 esv28285 1 15576232 15578112 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15216 S 451 0 1 FHAD1 NA12749 esv27394 1 15581325 15582378 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14001 S 451 1 0 FHAD1 NA18861 nsv517234 1 15585613 15593666 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691051,nssv669267,nssv678288,nssv654089 M 2026 4 0 FHAD1 esv2508152 1 15640659 15641550 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5282605 S 1 1 0 FHAD1 NA18507 nsv833536 1 15650001 15855325 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442985,nssv1442974 M 95 0 2 CASP9,CELA2A,CELA2B,CTRC,DNAJC16,EFHD2,FHAD1 esv163470 1 15656864 15657198 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528596,essv522157 M 185 0 2 Samples from several populations that are part of the HapMap project. FHAD1 NA06986,NA11919 nsv460561 1 15687059 15750217 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537108 S 1557 0 1 EFHD2,FHAD1 NINDS_60 dgv7347e59 1 15735114 15738263 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35696,esv35989 M 6 0 2 EFHD2 NA12878,NA19239 esv160038 1 15735389 15738238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458707,essv485437,essv464501,essv462068,essv479791,essv475347,essv471259,essv491469 M 185 0 8 Samples from several populations that are part of the HapMap project. EFHD2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv2117572 1 15772321 15772653 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687770 S 1 0 1 CTRC NA18507 dgv7348e59 1 15782324 15802578 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43480,esv38264,esv39154 M 6 0 6 CELA2A NA12891,NA19238,NA19239,NA19240 esv166164 1 15782999 15802962 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162690 S 185 0 29 Samples from several populations that are part of the HapMap project. CELA2A,CELA2B NA07051,NA07357,NA10847,NA11831,NA11881,NA11919,NA12144,NA12489,NA18501,NA18502,NA18523,NA18561,NA18563,NA18579,NA18593,NA18603,NA18861,NA18907,NA18916,NA18943,NA18945,NA18948,NA18949,NA18959,NA18961,NA19093,NA19108,NA19114,NA19225 esv1845824 1 15792424 15811221 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array essv4383691 S 6 1 0 CELA2A,CELA2B NA18980 nsv441683 1 15792424 15811221 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CELA2A,CELA2B nsv818056 1 15796808 15808872 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415731,nssv1415732 M 112 0 2 CELA2A,CELA2B NA12865,NA12875 esv42985 1 15797585 15817040 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123316 S 6 0 1 Samples from several populations that are part of the HapMap project. CELA2A,CELA2B NA12878 esv38091 1 15797616 15801612 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121517 S 6 0 1 Samples from several populations that are part of the HapMap project. CELA2A NA12892 dgv7349e59 1 15849514 15852863 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35708,esv37464 M 6 0 6 CASP9 NA12878,NA19238,NA19239,NA19240 dgv1542e59 1 15849789 15852938 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161463,esv160482 M 185 0 16 CASP9 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv43631 1 15908039 15972960 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv41812 S 6 0 1 Samples from several populations that are part of the HapMap project. AGMAT,DDI2 NA19240 esv29612 1 15913142 15913612 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18278 S 451 1 0 "" NA19240 esv43506 1 15919614 15938313 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv36182,esv37536 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19239 esv1833983 1 15930286 16011338 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4386196 S 6 0 1 DDI2,PLEKHM2,RSC1A1 NA10851 nsv471769 1 15932973 15938422 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646050 M 0.128 95 "" esv259731 1 15944558 15947145 OTHER Complex Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv2395610 S 144 0 0 Samples from several populations that are part of the HapMap project. DDI2 NA18501 dgv100e188 1 15986547 16028373 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1820546,esv1828057 M 6 2 0 DDI2,PLEKHM2,RSC1A1 NA15510,NA18576 dgv101e188 1 16001588 16011338 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1837105,esv1839170 M 6 0 2 PLEKHM2 NA10851 nsv524044 1 16001588 16161836 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699908 S 2026 0 1 FBLIM1,FLJ37453,PLEKHM2,SLC25A34,TMEM82,UQCRHL esv28978 1 16009544 16011390 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21090 S 451 1 0 PLEKHM2 NA06985 dgv102e188 1 16009856 16011338 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1834641,esv1849824,esv1847266,esv1841104,esv1792821,esv1843719,esv1840074,esv1836479 M 6 0 8 PLEKHM2 NA10851,NA12239,NA18980 esv161161 1 16009989 16012538 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475939,essv465013,essv461916,essv480228,essv471682,essv485564,essv491304,essv458358 M 185 0 8 Samples from several populations that are part of the HapMap project. PLEKHM2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36463 1 16010014 16012113 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114739 S 6 0 1 Samples from several populations that are part of the HapMap project. PLEKHM2 NA12878 esv42971 1 16010304 16010571 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123159 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv159958 1 16010614 16011663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv439405,essv438269,essv480597,essv468728,essv463173,essv469524,essv454053,essv467652,essv474926,essv434245,essv433320,essv470089,essv486962,essv477948,essv441685,essv477143,essv472234,essv483109,essv482313,essv455981,essv460643,essv479169,essv457300,essv429136,essv430980,essv450268,essv476581,essv488995,essv452937,essv458027,essv456366,essv444018,essv483964,essv495295,essv443218,essv446478,essv454735,essv494761,essv493434,essv449067,essv489684,essv447387,essv494032,essv486811,essv462610,essv436760,essv478651,essv436908,essv451082,essv432531,essv474293,essv463792,essv484972,essv466092,essv434449,essv444624,essv490726,essv466512,essv491933,essv431804,essv472925,essv440151 M 185 0 62 Samples from several populations that are part of the HapMap project. PLEKHM2 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981 esv1803758 1 16012012 16034201 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array essv4426434 S 6 0 1 PLEKHM2 NA12239 dgv11n27 1 16015986 16095316 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460583,nsv460572 M 1557 2 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 HGDP00130,HGDP00160 nsv508925 1 16043591 16130068 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619773 S 4 1 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 NA10860 nsv460594 1 16075906 16126207 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537135 S 1557 0 1 FBLIM1 NINDS_70 esv160432 1 16083889 16086938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv462031,essv485264,essv465315,essv479898,essv471121,essv475508,essv491976,essv459420 M 185 0 8 Samples from several populations that are part of the HapMap project. FBLIM1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160131 1 16084664 16085913 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv493396,essv476679,essv436870,essv431254,essv450667,essv480685,essv486888,essv465671,essv449051,essv486344,essv456977,essv462870,essv457680,essv463766,essv444691,essv456110,essv470284,essv449986,essv460455,essv478673,essv442511,essv469157,essv432037,essv491284,essv493889,essv463036,essv452955,essv483741,essv456764,essv485251,essv466313,essv477881,essv434323,essv446754,essv495385,essv490743,essv482312,essv443233,essv443914,essv447355,essv468674,essv454709,essv474254,essv477252,essv467464,essv472150,essv439998,essv429357,essv438380,essv494514,essv435716,essv454214,essv431547,essv439307,essv432921,essv474640,essv434302,essv436567,essv483558,essv488673,essv448369,essv441938 M 185 0 62 Samples from several populations that are part of the HapMap project. FBLIM1 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 nsv527046 1 16087260 16110815 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703422 S 2026 0 1 FBLIM1 esv163434 1 16095243 16095506 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv512586,essv528526 M 185 0 2 Samples from several populations that are part of the HapMap project. FBLIM1 NA11919,NA12043 nsv833647 1 16120537 16278829 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442996 S 95 0 1 FLJ37453,SPEN,UQCRHL,ZBTB17 dgv27e1 1 16127480 16155107 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv939,essv19370,essv22007 M 271 0 0 UQCRHL NA07019,NA12815 nsv3409 1 16136483 16179189 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8042 S 9 0 1 FLJ37453,SPEN NA12156 esv41194 1 16145135 16145358 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112326 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv511126 1 16149301 16161836 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626032 S 1 0 1 FLJ37453 1 nsv511677 1 16151770 16155798 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626315 S 1 0 1 "" 1 esv165838 1 16151858 16155470 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163473,esv163079,esv162088,esv162706,esv162830,esv161300 M 185 0 126 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA07357,NA11830,NA11832,NA11881,NA11894,NA11918,NA11920,NA11931,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12144,NA12156,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12813,NA12828,NA12878,NA12891,NA18498,NA18542,NA18564,NA18609,NA18853,NA18856,NA18912,NA19098,NA19160,NA19171 esv1010744 1 16151931 16158109 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564107 S 3 0 1 "" HuRef esv43699 1 16151936 16155439 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37051,esv36603,esv38566,esv38873,esv39227,esv38040 M 6 0 11 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv498663 1 16151943 16155433 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585393 S 9 0 1 "" esv29597 1 16152274 16155502 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17422 S 451 0 12 "" NA06985,NA11894,NA11931,NA11993,NA12004,NA12156,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510 nsv513982 1 16152277 16153957 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627625 S 1414 0 1 "" dgv103e188 1 16152297 16153885 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1827421,esv1826070,esv1828087,esv1826018 M 6 0 4 "" NA15510 esv160566 1 16172889 16176238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491307,essv459351,essv461768,essv471593,essv479531,essv485614,essv464640,essv476029 M 185 0 8 Samples from several populations that are part of the HapMap project. FLJ37453,SPEN NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35399 1 16173464 16177363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114807 S 6 0 1 Samples from several populations that are part of the HapMap project. FLJ37453,SPEN NA12878 nsv829559 1 16185986 16192955 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422361,nssv1439448,nssv1428817 M 31 0 3 SPEN AK12,NA18537,NA18552 esv22591 1 16210276 16213462 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17906 S 451 1 0 SPEN NA12287 nsv508936 1 16242347 16507520 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619774,nssv619775 M 4 2 0 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,SPEN,ZBTB17 NA10860 nsv833758 1 16295523 16467014 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443018,nssv1443007 M 95 1 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,ZBTB17 esv1819917 1 16309468 16389751 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4421565 S 6 1 0 C1orf64,CLCNKA,CLCNKB,FAM131C,HSPB7 NA18576 nsv517651 1 16331909 16380582 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653845,nssv664812,nssv663351,nssv687387,nssv655929,nssv664299,nssv654197,nssv701973,nssv675618,nssv673015,nssv692238,nssv659185,nssv667590,nssv680788,nssv688461,nssv669108,nssv666809,nssv673550,nssv669004,nssv669916,nssv692440,nssv668525,nssv653562,nssv674154,nssv687919,nssv674326,nssv661818,nssv680689,nssv678289,nssv685627,nssv698988,nssv683268,nssv673768,nssv672518,nssv701339,nssv674672,nssv670058,nssv656487,nssv700288,nssv656190,nssv683426 M 2026 5 36 C1orf64,CLCNKA,CLCNKB,HSPB7 nsv520148 1 16331909 16466003 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697249 S 2026 0 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 nsv524045 1 16331909 16552772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699909 S 2026 0 1 ARHGEF19,C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 dgv104e188 1 16338792 16574379 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1809553,esv1798980 M 6 2 0 ARHGEF19,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,RSG1 NA12239,NA18517 dgv12n27 1 16340460 16368403 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460618,nsv460605 M 1557 0 2 CLCNKA,HSPB7 HGDP00525,HGDP00971 nsv460629 1 16340460 16380582 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537170 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CLCNKA,CLCNKB,HSPB7 HGDP01090 nsv470698 1 16340460 16396806 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547710 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CLCNKA,CLCNKB,FAM131C,HSPB7 HGDP00661 dgv13n27 1 16346457 16376831 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460640,nsv460651 M 1557 2 0 CLCNKA,CLCNKB HGDP00906,HGDP00941 esv25815 1 16346942 16390883 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10646,esv17676 M 451 8 0 CLCNKA,CLCNKB,FAM131C NA12156,NA12489,NA12828,NA18508,NA18858,NA18861,NA18909,NA19108 esv166046 1 16347854 16371757 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163456 S 185 0 20 Samples from several populations that are part of the HapMap project. CLCNKA,CLCNKB NA06986,NA10851,NA11918,NA11920,NA11992,NA12003,NA12144,NA12154,NA12489,NA12717,NA12750,NA12828,NA18501,NA18522,NA18523,NA18858,NA18870,NA18916,NA19147,NA19225 dgv2n64 1 16348412 16368324 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818078,nsv818067 M 112 5 0 CLCNKA NA19143,NA19172,NA19173,NA19193,NA19194 esv8597 1 16349786 16371695 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31038 S 1 0 1 CLCNKA,CLCNKB SJK esv165612 1 16349979 16351820 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161810 S 185 0 26 Samples from several populations that are part of the HapMap project. CLCNKA NA07051,NA11881,NA12004,NA12043,NA18504,NA18505,NA18507,NA18517,NA18532,NA18550,NA18558,NA18563,NA18564,NA18570,NA18571,NA18572,NA18582,NA18853,NA18907,NA18909,NA18912,NA18943,NA19099,NA19108,NA19239,NA19240 esv39212 1 16356279 16378702 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv117335,essv118278 M 6 0 2 Samples from several populations that are part of the HapMap project. CLCNKA,CLCNKB NA19238,NA19240 dgv7350e59 1 16358425 16372649 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39390,esv43202 M 6 0 2 CLCNKA,CLCNKB NA12891,NA12892 esv161604 1 16358564 16362863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv457117,essv451221,essv488333,essv432980,essv445229,essv493717,essv482980,essv438722,essv489204,essv445407,essv465698,essv436360,essv429940,essv482763,essv431338,essv442758,essv486070,essv433486,essv486606,essv464636,essv459786,essv474362,essv440383,essv435088,essv447920,essv489830,essv461962,essv452626,essv431634,essv449711,essv435688,essv446361,essv434937,essv454009,essv432271,essv450892,essv468887,essv455997,essv441260,essv478427,essv430536,essv472279,essv442642,essv441937,essv487000,essv437735,essv440642,essv440951,essv456791,essv490584,essv451516,essv487964,essv471389,essv450479,essv459518,essv443539,essv463522,essv481519,essv441167,essv451840,essv475196,essv491191,essv468264,essv455627,essv457670,essv432644,essv481791,essv473220,essv447670,essv470357,essv455321,essv479280,essv481755,essv444452,essv449422,essv482492,essv429661,essv429226,essv488736,essv491400,essv474263,essv468022,essv481137,essv454753,essv464220,essv469505,essv483169,essv450081,essv474706,essv435909,essv473373,essv490912,essv472607,essv462507,essv467336,essv475995,essv437453,essv493809,essv494345,essv473669,essv470565 M 185 0 101 Samples from several populations that are part of the HapMap project. CLCNKA NA06986,NA07037,NA07347,NA10851,NA11830,NA11831,NA11832,NA11894,NA11919,NA11920,NA11992,NA11993,NA12003,NA12004,NA12045,NA12155,NA12156,NA12249,NA12287,NA12750,NA12763,NA12776,NA12892,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18510,NA18519,NA18520,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18576,NA18577,NA18579,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18871,NA18907,NA18912,NA18940,NA18942,NA18943,NA18945,NA18947,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18961,NA18965,NA18971,NA18972,NA18973,NA18975,NA18976,NA19093,NA19098,NA19099,NA19102,NA19114,NA19119,NA19131,NA19138,NA19147,NA19172,NA19190,NA19200,NA19204,NA19225,NA19238,NA19257 esv36323 1 16359264 16363363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116432 S 6 0 1 Samples from several populations that are part of the HapMap project. CLCNKA NA19239 nsv829570 1 16359361 16403632 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426375 S 31 1 0 CLCNKA,CLCNKB,FAM131C AK6 esv166381 1 16359389 16362238 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160791 S 185 0 8 Samples from several populations that are part of the HapMap project. CLCNKA NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv1840244 1 16360382 16371932 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4386197 S 6 0 1 CLCNKA,CLCNKB NA10851 esv1821219 1 16360487 16368324 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4405504 S 6 0 1 CLCNKA NA18576 esv2434454 1 16361125 16385507 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5273432 S 1 0 1 CLCNKB,FAM131C NA18507 nsv511678 1 16361428 16384130 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626316 S 1 0 1 CLCNKB 1 dgv7351e59 1 16361785 16389325 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43267,esv39837,esv43017 M 6 0 6 CLCNKB,FAM131C NA12878,NA12891,NA19238,NA19240 esv995840 1 16362090 16385344 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3574114 S 3 0 1 CLCNKB,FAM131C HuRef esv165511 1 16362430 16389274 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163232 S 185 0 26 Samples from several populations that are part of the HapMap project. CLCNKB,FAM131C NA06986,NA07037,NA07051,NA07357,NA11829,NA11881,NA11894,NA11931,NA12003,NA12043,NA12044,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA18498,NA18507,NA18545,NA18856,NA18871,NA18945,NA18956,NA19093,NA19257 nsv436443 1 16363261 16384355 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466694 S 2 0 1 Samples from several populations that are part of the HapMap project. CLCNKB,FAM131C NA18505 dgv1e19 1 16363800 16389174 CNV Loss Ahn et al 2009 19470904 Sequencing esv5593,esv5890 M 1 0 2 CLCNKB,FAM131C SJK esv32650 1 16364027 16389792 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93058,essv95958,essv97715 M 51 3 0 CLCNKB,FAM131C 21863,22127,22278 nsv441684 1 16368131 16379331 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CLCNKB esv43139 1 16376318 16386334 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37982 S 6 0 1 Samples from several populations that are part of the HapMap project. CLCNKB,FAM131C NA19239 esv165776 1 16376502 16386262 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164782,esv163863 M 185 0 47 Samples from several populations that are part of the HapMap project. CLCNKB,FAM131C NA07037,NA07051,NA11829,NA11993,NA12044,NA12154,NA12489,NA12749,NA12750,NA12761,NA18499,NA18508,NA18519,NA18547,NA18552,NA18558,NA18562,NA18563,NA18570,NA18571,NA18576,NA18577,NA18579,NA18592,NA18593,NA18608,NA18609,NA18861,NA18916,NA18940,NA18943,NA18944,NA18945,NA18949,NA18956,NA18959,NA18965,NA18973,NA18980,NA19093,NA19129 esv6377 1 16376506 16386270 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28818 S 1 0 1 CLCNKB,FAM131C SJK esv1006289 1 16376517 16376517 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3572231 S 3 1 0 CLCNKB HuRef esv1779187 1 16376518 16376518 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873209 S 2 1 0 CLCNKB HuRef esv160088 1 16381864 16386263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv446829,essv490620,essv445302,essv460121 M 185 0 4 Samples from several populations that are part of the HapMap project. CLCNKB,FAM131C NA12156,NA12717,NA19238,NA19240 esv36243 1 16382664 16386263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116298 S 6 0 1 Samples from several populations that are part of the HapMap project. CLCNKB,FAM131C NA19239 esv37215 1 16398564 16401463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114768 S 6 0 1 Samples from several populations that are part of the HapMap project. FAM131C NA12878 esv1072127 1 16421223 16421223 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733226 S 2 1 0 "" HuRef nsv833869 1 16436753 16605129 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443029 S 95 0 1 ARHGEF19,EPHA2,FBXO42,RSG1 nsv470699 1 16466003 16530716 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547711 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF19,EPHA2 HGDP00697 esv42935 1 16469194 16469455 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123305 S 6 0 1 Samples from several populations that are part of the HapMap project. EPHA2 NA12878 esv1258099 1 16490555 16490555 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037753 S 2 1 0 "" HuRef esv43405 1 16492452 16492876 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv37937 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv1271324 1 16492647 16492707 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655096 S 2 0 1 "" HuRef dgv2e180 1 16492664 16492735 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993773,esv993479 M 3 0 2 "" HuRef esv1792183 1 16540078 16622546 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array essv4425925 S 6 0 1 FBXO42,RSG1 NA12239 nsv3520 1 16547808 16582246 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2762 S 9 1 0 FBXO42,RSG1 NA18555 esv164571 1 16592708 16592780 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv546835,essv549974,essv547007,essv543984,essv544266 M 185 0 5 Samples from several populations that are part of the HapMap project. FBXO42 NA18499,NA18870,NA18907,NA19239,NA19257 esv43388 1 16592724 16592774 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv42561 S 6 0 1 Samples from several populations that are part of the HapMap project. FBXO42 NA19239 esv40805 1 16624401 16624644 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112046 S 6 0 1 Samples from several populations that are part of the HapMap project. FBXO42 NA12878 esv1036042 1 16637582 16637582 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767129 S 2 1 0 FBXO42 HuRef esv2618916 1 16639768 16639820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5350545 S 1 0 1 FBXO42 NA18507 nsv511679 1 16686601 16690950 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626317 S 1 0 1 "" 1 esv1821311 1 16691023 16736132 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanHap650Yv3 Genotyping BeadChip essv4382918 S 6 1 0 C1orf144,SPATA21 NA18576 nsv829581 1 16748650 16755035 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421445 S 31 0 1 SPATA21 NA18997 esv1035588 1 16750713 16750713 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853896 S 2 1 0 SPATA21 HuRef esv166545 1 16751041 16755280 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163802,esv162448 M 185 0 5 Samples from several populations that are part of the HapMap project. SPATA21 NA18561,NA18576,NA18967 dgv19n67 1 16751159 16755035 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829603,nsv829592 M 31 0 3 SPATA21 AK14,AK6,NA18969 dgv28e1 1 16764333 17125658 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16669,essv6723,essv3387,essv9940,essv4125,essv2595,essv404,essv18376,essv15101,essv16154,essv4977 M 271 0 0 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2 NA12249,NA18555,NA18608,NA18637,NA18945,NA18971,NA18990,NA19100,NA19129,NA19142,NA19145 dgv29e1 1 16764333 17483981 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv697,essv11274,essv11946,essv10302,essv8109,essv7338,essv17478,essv2165,essv9815,essv1374,essv2981,essv11570,essv20074,essv16876,essv14148,essv20767,essv19098,essv10234,essv17163,essv11626,essv22395 M 271 0 0 ATP13A2,CROCC,CROCCP2,CROCCP3,ESPNP,MFAP2,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,PADI2,SDHB NA07048,NA07055,NA12146,NA12762,NA12875,NA18502,NA18506,NA18570,NA18863,NA18960,NA18981,NA19007,NA19140,NA19152,NA19154,NA19171,NA19173,NA19204,NA19205,NA19206 nsv428421 1 16764333 17483981 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454521,nssv454376,nssv454398,nssv454354,nssv454421,nssv454299,nssv454265,nssv454454,nssv454487,nssv454498,nssv454465,nssv454387,nssv454476,nssv454365,nssv454509,nssv454410,nssv454321,nssv454276,nssv454332,nssv454343,nssv454443,nssv454310,nssv454432 M 62 17 6 ATP13A2,CROCC,CROCCP2,CROCCP3,ESPNP,MFAP2,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,PADI2,SDHB HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00472,HGDP00476,HGDP00984,HGDP00986,HGDP01086,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19147,NA19181,NA19225,NA19257 dgv1n68 1 16765771 16936692 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833980,nsv834092 M 95 0 8 CROCCP3,MIR3675,NBPF1,NECAP2 nsv9213 1 16777017 16779533 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15103,nssv13424,nssv12118 M 31 0 3 Samples from several populations that are part of the HapMap project. NECAP2 NA18504,NA18517,NA19144 nsv9324 1 16797147 17281224 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13422,nssv14744,nssv13092,nssv15104,nssv15438,nssv16414,nssv12758,nssv12766,nssv17423,nssv14080,nssv12778,nssv13752,nssv13426,nssv13419,nssv16098,nssv13761,nssv15754,nssv13754,nssv14091,nssv13756,nssv14100,nssv14740,nssv12753,nssv14421,nssv13089,nssv11767,nssv14410,nssv15768,nssv12098,nssv16084,nssv12116,nssv13090,nssv13420,nssv14082,nssv28922,nssv15779,nssv14760,nssv12097,nssv14415,nssv11768,nssv12428,nssv17093,nssv12440,nssv13104,nssv12448,nssv13742,nssv14430,nssv15424,nssv11785,nssv14085,nssv13096,nssv14084,nssv16763,nssv29254,nssv13749,nssv29255,nssv14414,nssv13750 M 31 20 38 Samples from several populations that are part of the HapMap project. CROCC,CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12740,NA12802,NA18502,NA18517,NA18537,NA18552,NA18564,NA18853,NA18860,NA18972,NA18975,NA18980,NA19007,NA19144,NA19173,NA19221 nsv436814 1 16806094 16950241 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465509 S 2 1 0 Samples from several populations that are part of the HapMap project. CROCCP2,CROCCP3,MIR3675,NBPF1 NA18505 esv2750816 1 16808694 17029714 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981188,essv6985510 M 771 1 0 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,NBPF1 BEC_362 dgv30e1 1 16808694 17342768 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6477,essv18898,essv7960,essv6464,essv15917,essv10442,essv8266,essv8050,essv13252,essv19900,essv12088,essv12447,essv13308,essv8565,essv7990,essv8718,essv9441,essv8984,essv14235,essv12873,essv21574,essv8586,essv7936,essv12895,essv14673,essv15194,essv4644,essv10181,essv9267,essv12117,essv10959,essv14574,essv23321,essv949,essv13338,essv11038,essv16559,essv9970 M 271 0 0 ATP13A2,CROCC,CROCCP2,CROCCP3,ESPNP,MFAP2,MIR3675,MST1P2,MST1P9,NBPF1 NA12146,NA12264,NA12717,NA12813,NA18500,NA18502,NA18503,NA18504,NA18515,NA18516,NA18522,NA18594,NA18636,NA18637,NA18981,NA19092,NA19099,NA19100,NA19103,NA19130,NA19137,NA19139,NA19143,NA19145,NA19152,NA19153,NA19173,NA19193,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19208,NA19209,NA19221 dgv7352e59 1 16809697 16811782 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43827,esv38852 M 6 0 11 CROCCP3 NA19239,NA19240 dgv1543e59 1 16809849 16811599 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv164831,esv165990 M 185 0 44 CROCCP3 NA07346,NA11994,NA12763,NA12892,NA18486,NA18504,NA18510,NA18516,NA18517,NA18519,NA18520,NA18858,NA18871,NA18953,NA18976,NA18981,NA19098,NA19102,NA19108,NA19116,NA19129,NA19131,NA19147,NA19152,NA19171,NA19172,NA19238,NA19239,NA19240 nsv159668 1 16809866 16811596 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178246 M 24 CROCCP3 esv39125 1 16812959 16959904 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121998 S 6 0 1 Samples from several populations that are part of the HapMap project. CROCCP2,CROCCP3,MIR3675,NBPF1 NA12878 dgv105e188 1 16819633 17009406 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1833238,esv1829418,esv1831532,esv1826377 M 6 4 0 CROCCP2,MIR3675,MST1P2,NBPF1 NA15510 dgv7353e59 1 16820264 16823463 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35359,esv36555 M 6 0 2 "" NA19239,NA19240 dgv106e188 1 16820846 17280107 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1822812,esv1819287,esv1817726 M 6 0 3 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA18576 esv33046 1 16821558 17012524 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101566,essv101021,essv98327,essv94690,essv97938,essv95236,essv97341,essv101730,essv95920,essv96456,essv96254 M 51 0 11 CROCCP2,MIR3675,MST1P2,NBPF1 21603,21693,21772,21791,21837,21872,21879,21909,21911,22261,22371 esv37161 1 16824464 16827013 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114745 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 essv25036 1 16827791 16945358 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CROCCP2,MIR3675,NBPF1 NA12801 dgv7354e59 1 16830564 16844763 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36462,esv37553,esv35451,esv36518,esv36862 M 6 0 5 "" NA12878,NA12891,NA12892,NA19238,NA19240 esv37217 1 16831364 16837063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116102 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 dgv20n67 1 16831880 17106501 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829614,nsv829636,nsv821710,nsv821699 M 31 4 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA18564,NA18570,NA18973,NA18997 nsv821511 1 16831880 17106501 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420247 S 1 1 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA10851 nsv829625 1 16831880 17281753 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423946,nssv1433412,nssv1428017,nssv1427247,nssv1436329,nssv1423110,nssv1434862,nssv1428819,nssv1431796,nssv1437217,nssv1423407 M 31 11 0 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 AK10,AK12,AK20,AK8,NA18526,NA18542,NA18582,NA18942,NA18949,NA18968,NA18999 dgv107e188 1 16833070 17280746 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1827716,esv1806198,esv1832547 M 6 3 0 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA15510,NA18517 esv29642 1 16833086 17125629 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20185,esv17891,esv13221,esv20857,esv20432,esv12183,esv16441,esv17374,esv12048,esv17903,esv15698,esv11265,esv18819,esv19804,esv18078,esv10634 M 451 47 22 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA07045,NA11894,NA11931,NA11993,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv36868 1 16835564 16844763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116594 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 dgv7355e59 1 16842179 17003863 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37387,esv35790,esv35589,esv36500,esv39706,esv35313 M 6 0 6 CROCCP2,MIR3675,MST1P2,NBPF1 NA12878,NA12891,NA12892,NA19238,NA19239 dgv7356e59 1 16853664 16865063 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36761,esv35462,esv37035,esv35290 M 6 0 4 "" NA12878,NA12891,NA19238,NA19240 dgv108e188 1 16854675 17009604 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1829268,esv1828409,esv1825651,esv1832713,esv1827434,esv1825041,esv1792494,esv1828394,esv1833382 M 6 9 0 CROCCP2,MIR3675,MST1P2,NBPF1 NA12239,NA15510 esv1829595 1 16854951 16884324 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4368872 S 6 1 0 MIR3675 NA15510 dgv31e1 1 16857227 17055906 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19114,essv15397,essv14216,essv22522,essv12804,essv9511,essv16398,essv24736,essv19470,essv17392,essv8527,essv18478,essv9681,essv15729,essv16000 M 271 0 0 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 NA11829,NA11882,NA12044,NA12156,NA12750,NA18501,NA18521,NA18523,NA18855,NA18913,NA19120,NA19131,NA19139,NA19203 dgv32e1 1 16857227 17125658 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17268,essv2334,essv6017,essv23488,essv447,essv21549,essv23350,essv5156,essv20254,essv1741,essv14729,essv5730,essv15858,essv22908,essv7145 M 271 0 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA07034,NA12144,NA12750,NA12760,NA12873,NA18503,NA18547,NA18564,NA18571,NA18593,NA18940,NA18952,NA18997,NA19159,NA19223 dgv7357e59 1 16863564 16875463 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35778,esv37406 M 6 0 2 MIR3675 NA12892,NA19240 dgv33e1 1 16864087 16969095 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9844,essv19066 M 271 0 0 CROCCP2,MIR3675,NBPF1 NA11830,NA19144 nsv834203 1 16866144 16910121 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443162,nssv1443207,nssv1443151,nssv1443218,nssv1443173,nssv1443240,nssv1443196,nssv1443229,nssv1443129,nssv1443140,nssv1443185,nssv1443251 M 95 0 12 MIR3675,NBPF1 esv1828776 1 16866253 16884324 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4372437 S 6 1 0 MIR3675 NA15510 dgv109e188 1 16869351 16970444 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1828116,esv1832539 M 6 2 0 CROCCP2,MIR3675,NBPF1 NA15510 esv165807 1 16870564 16875263 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160938 S 185 0 5 Samples from several populations that are part of the HapMap project. "" NA18537,NA18573,NA18943,NA18947,NA18964 essv17368 1 16871316 16931006 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR3675,NBPF1 NA18517 esv37347 1 16873764 16896863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115527 S 6 0 1 Samples from several populations that are part of the HapMap project. MIR3675,NBPF1 NA19240 esv1831810 1 16874724 16884324 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4368582 S 6 1 0 MIR3675 NA15510 esv159606 1 16877764 16882363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv482584,essv489193,essv480074,essv457855,essv440375,essv469975 M 185 0 6 Samples from several populations that are part of the HapMap project. "" NA07346,NA12004,NA18520,NA18537,NA18582,NA19172 nsv499577 1 16879365 17006969 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585483 S 9 0 0 CROCCP2,MST1P2,NBPF1 esv165419 1 16880664 16885263 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161165 S 185 0 7 Samples from several populations that are part of the HapMap project. "" NA18573,NA18576,NA18579,NA18582,NA18593,NA18638,NA18942 esv1848980 1 16883424 16919167 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4377528 S 6 1 0 NBPF1 NA18980 dgv110e188 1 16884810 17125658 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1833156,esv1850234 M 6 0 2 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA15510,NA18980 nsv7173 1 16885574 17264314 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10882,nssv3885,nssv10485,nssv9949,nssv657,nssv5331,nssv3861,nssv10523,nssv747,nssv929,nssv5314,nssv9405,nssv1893,nssv1903,nssv11237,nssv9682,nssv10507,nssv6334,nssv1863,nssv1910,nssv5304,nssv9691,nssv3851,nssv9355,nssv10890,nssv1777 M 9 0 0 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv3632 1 16885846 16920424 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6260,nssv2682,nssv5295,nssv11241,nssv564,nssv3801,nssv9681 M 9 7 0 NBPF1 NA12156,NA12878,NA15510,NA18507,NA18555,NA19129,NA19240 esv1793465 1 16886490 16894256 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4374187 S 6 0 1 NBPF1 NA12239 nsv834247 1 16886563 16997171 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443273,nssv1443351,nssv1443318,nssv1443284,nssv1443262,nssv1443307,nssv1443340,nssv1443373,nssv1443384,nssv1443296,nssv1443329,nssv1443362 M 95 1 11 CROCCP2,MST1P2,NBPF1 nsv221 1 16888296 16891688 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv221 S 1 1 0 NBPF1 NA15510 dgv111e188 1 16888763 16894256 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1796767,esv1795934 M 6 0 2 NBPF1 NA12239 nsv471343 1 16890412 16918689 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548026,nssv548027,nssv548025 M 3 3 0 NBPF1 nsv471344 1 16890412 16939982 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548029,nssv548030,nssv548028 M 3 3 0 NBPF1 nsv482190 1 16890412 16939982 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558551 S 1 1 0 NBPF1 KB1 esv1821197 1 16890851 16894256 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4370064 S 6 0 1 NBPF1 NA18576 nsv514916 1 16891448 16893975 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628444 S 1414 0 0 NBPF1 esv38595 1 16892188 16892419 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv113040 S 6 0 1 Samples from several populations that are part of the HapMap project. NBPF1 NA12878 nsv435932 1 16892389 16892507 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465620 S 2 1 0 NBPF1 NA15510 nsv159149 1 16892493 16894030 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177727 M 24 NBPF1 nsv436039 1 16892689 16892745 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465731 S 2 1 0 NBPF1 NA15510 esv34697 1 16895276 17045646 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979544,essv6986884,essv6990378 M 771 1 0 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 NA18570 esv36657 1 16895364 16977563 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115462 S 6 0 1 Samples from several populations that are part of the HapMap project. CROCCP2,MST1P2,NBPF1 NA19240 nsv3743 1 16899499 16945621 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv835,nssv3842 M 9 0 2 CROCCP2,NBPF1 NA12878,NA19240 esv1798742 1 16899953 16952060 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4395025 S 6 1 0 CROCCP2,NBPF1 NA12239 esv160797 1 16900164 16904463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv452694,essv434415,essv435594,essv467863,essv447664,essv447099,essv460131,essv475279 M 185 0 8 Samples from several populations that are part of the HapMap project. NBPF1 NA12144,NA12776,NA18975,NA19119,NA19131,NA19137,NA19209,NA19240 esv38597 1 16902405 16908860 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122079,essv122480 M 6 0 2 Samples from several populations that are part of the HapMap project. NBPF1 NA19239,NA19240 dgv7358e59 1 16908014 16911913 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39271,esv43606 M 6 0 2 NBPF1 NA12878,NA12892 esv38282 1 16908037 16913565 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121220 S 6 0 1 Samples from several populations that are part of the HapMap project. NBPF1 NA12891 dgv1n16 1 16908693 16915645 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436307,nsv435920 M 2 0 2 NBPF1 NA15510,NA18505 nsv160674 1 16910755 16917058 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179252 M 24 NBPF1 dgv112e188 1 16917719 17011710 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1827065,esv1833280 M 6 2 0 CROCCP2,MIR3675,MST1P2,NBPF1 NA15510 dgv113e188 1 16917919 16986171 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1831205,esv1833293 M 6 2 0 CROCCP2,MST1P2,NBPF1 NA15510 dgv34e1 1 16920271 17299983 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2144,essv8061,essv23713,essv1654,essv21496,essv2946,essv11327,essv10512,essv11309,essv507,essv7670,essv5680,essv5427,essv2391,essv2922,essv2727,essv20981,essv12074,essv3943,essv1545,essv13992,essv9528,essv192,essv1070,essv3575,essv24019,essv14917,essv14801,essv2702,essv98,essv22697,essv8675,essv4325,essv5863,essv14835,essv3489,essv3658,essv1573,essv24438,essv20753,essv21893,essv5646,essv24180,essv22714,essv23097,essv635,essv18690,essv9483,essv1312,essv18806,essv2566,essv13813,essv7246,essv22267,essv23764,essv21960,essv7452,essv8492,essv20473,essv20819,essv19814,essv7886,essv19315,essv1297,essv2,essv14021,essv4527,essv613,essv1807,essv5077,essv24605,essv7649,essv5953,essv13968,essv3252,essv3913,essv4106,essv1690,essv1669 M 271 0 0 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA06991,NA07000,NA07357,NA10855,NA10863,NA11992,NA11994,NA12003,NA12004,NA12043,NA12056,NA12239,NA12248,NA12249,NA12740,NA12751,NA12864,NA12865,NA12872,NA12873,NA12875,NA18529,NA18542,NA18555,NA18564,NA18570,NA18577,NA18579,NA18582,NA18605,NA18620,NA18623,NA18632,NA18635,NA18853,NA18854,NA18863,NA18870,NA18944,NA18945,NA18947,NA18952,NA18960,NA18961,NA18965,NA18967,NA18968,NA18970,NA18971,NA18972,NA18973,NA18974,NA18976,NA18978,NA18980,NA18987,NA18990,NA18991,NA18992,NA18994,NA18997,NA18998,NA18999,NA19005,NA19007,NA19012,NA19098,NA19101,NA19119,NA19128,NA19129,NA19140,NA19143,NA19154,NA19160,NA19161,NA19222,NA19223,NA19238 esv2597795 1 16922530 16968438 CNV Gain McKernan_et_al_2009 19546169 Sequencing Not specified essv5337771 S 1 1 0 CROCCP2,NBPF1 NA18507 dgv35e1 1 16922816 16969095 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6793,essv19889 M 271 0 0 CROCCP2,NBPF1 NA11881,NA18594 dgv36e1 1 16922816 17055906 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11603,essv5622,essv10595,essv15156,essv23162,essv6935,essv15449,essv15972,essv8991,essv19145,essv22785,essv21752,essv25159,essv12038,essv24554,essv6079 M 271 0 0 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 NA10831,NA10861,NA11831,NA11839,NA12753,NA12812,NA18593,NA18608,NA18621,NA19116,NA19142,NA19194,NA19206,NA19207,NA19210,NA19211 nsv469795 1 16923240 17010093 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649816 M 265 14 Samples from several populations that are part of the HapMap project. CROCCP2,MIR3675,MST1P2,NBPF1 nsv471655 1 16923241 17010093 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550575,nssv550582,nssv550597,nssv550581,nssv550594,nssv550579,nssv550580,nssv550571,nssv550578,nssv550584,nssv550589,nssv550595,nssv550590,nssv550588,nssv550577,nssv550583,nssv550593,nssv550591,nssv550598,nssv550574,nssv550599,nssv550585,nssv550596,nssv550587,nssv550586,nssv550576,nssv550592,nssv550572,nssv550573 M 48 2 27 CROCCP2,MIR3675,MST1P2,NBPF1 JK1051A,JK1058B,JK776,NA10469A,NA10494A,NA10495B,NA10496A,NA10967,NA10969,NA10976,NA10979,NA11521,NA11523,NA15724,NA15725,NA15726,NA15728,NA15730,NA15731,NA15732,NA15733,NA17014A,NA17015,NA17016,NA17020A,NA17051,NA17052,NA17059A,P86GA essv11467 1 16923248 16931006 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NBPF1 NA18856 dgv114e188 1 16940520 16982829 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1830225,esv1828497 M 6 2 0 CROCCP2,MST1P2 NA15510 dgv1544e59 1 16945024 16948078 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv165676,esv164017 M 185 0 10 CROCCP2 NA06985,NA06994,NA11829,NA11830,NA12005,NA12156,NA12414,NA12489,NA12749,NA12760 nsv3854 1 16945141 16964571 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3870 S 9 1 0 CROCCP2 NA12878 esv1801138 1 16947264 17177340 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4423714 S 6 1 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9 NA12239 esv29948 1 16948127 17257997 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84187 S 3 0 1 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9 WATSON dgv21n67 1 16953076 17106501 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821732,nsv821721 M 31 2 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9 AK14,NA18547 dgv37e1 1 16959462 17055906 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14928,essv2364,essv19296,essv18520,essv7638,essv995,essv19712,essv6418,essv20548,essv19372 M 271 0 0 ESPNP,MIR3675,MST1P2 NA07019,NA07022,NA11995,NA12236,NA12763,NA18545,NA18547,NA18964,NA18995,NA19132 dgv38e1 1 16959462 17216331 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13406,essv747,essv18043,essv19835,essv722 M 271 0 0 ESPNP,MIR3675,MST1P2,MST1P9 NA06993,NA10847,NA18872,NA18940,NA19003 dgv115e188 1 16969994 17125658 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1843139,esv1848939,esv1851090,esv1844824 M 6 0 4 ESPNP,MIR3675,MST1P2,MST1P9 NA18980 esv1842761 1 16971408 17005626 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4376603 S 6 0 1 MST1P2 NA18980 dgv116e188 1 16971408 17008335 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1810030,esv1809140,esv1797493 M 6 3 0 MIR3675,MST1P2 NA12239,NA18517 esv1847920 1 16972151 16985283 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4377465 S 6 0 1 MST1P2 NA18980 dgv117e188 1 16972151 16992624 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1843480,esv1848444 M 6 0 2 MST1P2 NA18980 dgv118e188 1 16972610 17222088 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1832502,esv1851600 M 6 0 2 ESPNP,MIR3675,MST1P2,MST1P9 NA15510,NA18980 nsv436652 1 16974452 17083243 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465873 S 2 0 0 Samples from several populations that are part of the HapMap project. ESPNP,MIR3675,MST1P2,MST1P9 NA18505 esv1808608 1 16977154 16996637 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4370721 S 6 1 0 "" NA18517 esv36605 1 16978064 16989863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115597 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv7359e59 1 16988364 17003863 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37151,esv36878 M 6 0 2 "" NA19239,NA19240 nsv160333 1 17000927 17001237 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178911 M 24 "" dgv119e188 1 17005722 17049739 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1844553,esv1843945,esv1846358 M 6 3 0 ESPNP,MIR3675 NA18980 esv6890 1 17006264 17052445 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29331 S 1 0 0 ESPNP,MIR3675 SJK dgv39e1 1 17007592 17125658 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21315,essv4243,essv14604,essv9084,essv21756,essv1164,essv12558,essv5796,essv24578,essv4752,essv1152,essv6578,essv24798,essv5201,essv7828,essv20425,essv529,essv12264,essv6909,essv8651,essv16393,essv6329,essv24418,essv15527,essv21290,essv20210,essv18131,essv5576,essv22983,essv15232,essv17956,essv11094,essv2656,essv1465,essv3462,essv4715,essv3706,essv14389,essv3203,essv7560,essv23121,essv9749 M 271 0 0 ESPNP,MIR3675,MST1P9 NA07357,NA10830,NA10855,NA10860,NA11832,NA11992,NA11993,NA12003,NA12239,NA12707,NA12878,NA12891,NA18505,NA18507,NA18529,NA18545,NA18558,NA18566,NA18603,NA18605,NA18609,NA18611,NA18620,NA18621,NA18622,NA18913,NA18944,NA18947,NA18951,NA18964,NA18967,NA18974,NA18992,NA18998,NA19093,NA19094,NA19098,NA19101,NA19132,NA19139,NA19211,NA19239 nsv482949 1 17007592 17125658 CNV Loss Iafrate et al 2004 15286789 BAC_aCGH,FISH Spectral Genomics 2600 BAC array nssv650813 M 0 0 Seven samples from cytogenetically abnormal individuals were obtained from the Brigham and Women's Cytogenetics Laboratory and 9 DNA samples, from individuals with defined karyotypic abnormalities, were obtained from whole blood samples from the Hospital for Sick Children. ESPNP,MIR3675,MST1P9 dgv40e1 1 17007592 17483981 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1499,essv9388 M 271 0 0 ATP13A2,CROCC,ESPNP,MFAP2,MIR3675,MST1P9,PADI2,SDHB NA18853,NA18980 dgv120e188 1 17008335 17054057 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1827626,esv1810736,esv1825411,esv1831408,esv1806779,esv1808101,esv1825747,esv1825866,esv1808896,esv1833267,esv1808746 M 6 0 11 ESPNP NA15510,NA18517 dgv1545e59 1 17009351 17013463 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv166316,esv166528 M 185 0 50 "" NA06986,NA06994,NA07000,NA07037,NA07347,NA07357,NA11831,NA11995,NA12003,NA12156,NA12414,NA12716,NA12750,NA12760,NA12763,NA12813,NA12828,NA12891,NA18501,NA18507,NA18547,NA18552,NA18555,NA18562,NA18566,NA18572,NA18577,NA18592,NA18593,NA18608,NA18609,NA18638,NA18871,NA18940,NA18971,NA19093,NA19129,NA19138,NA19171,NA19190,NA19239 esv43166 1 17009398 17013804 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38662 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv2n6 1 17009557 17012761 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv159492,nsv159352 M 24 "" esv1799394 1 17009595 17118628 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Human CGH 3x720K Whole-Genome Tiling v3.0 Array essv4424388 S 6 1 0 ESPNP,MST1P9 NA12239 dgv122e188 1 17009595 17330538 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1794489,esv1801189 M 6 2 0 ATP13A2,CROCC,ESPNP,MFAP2,MIR3675,MST1P9 NA12239 nsv438303 1 17011655 17024300 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468852,nssv468963,nssv468740,nssv469074 M 269 0 4 Samples from several populations that are part of the HapMap project. ESPNP NA12802,NA12815,NA19138,NA19139 esv33965 1 17012120 17279975 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101508,essv97457,essv101115,essv93832,essv101061,essv95128,essv98340,essv98164,essv94416,essv96937,essv97929,essv95690,essv95548,essv93056,essv95397,essv97342,essv97317,essv101652,essv101691,essv95885,essv95797,essv94631,essv94591,essv99013,essv92701,essv96578,essv97172,essv93586,essv93568,essv93286,essv94915,essv92596,essv96504,essv99198,essv97738,essv100280,essv100508,essv100427,essv96287 M 51 32 7 CROCC,ESPNP,MIR3675,MST1P9 21603,21616,21618,21634,21693,21721,21772,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21944,22011,22075,22128,22170,22231,22233,22261,22275,22278,22286,22298,22300,22371 esv2547944 1 17012740 17050802 CNV Gain McKernan_et_al_2009 19546169 Sequencing Not specified essv5366950 S 1 1 0 ESPNP NA18507 nsv821743 1 17013588 17106501 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437930 S 31 1 0 ESPNP,MST1P9 NA18951 nsv437204 1 17014694 17024300 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467085 S 60 0 1 Samples from several populations that are part of the HapMap project. ESPNP NA18506 nsv821754 1 17015261 17032864 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426377 S 31 1 0 ESPNP AK6 nsv821765 1 17015261 17053911 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440804 S 31 1 0 ESPNP NA18969 nsv819277 1 17018421 17053941 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1418721 S 2 1 0 ESPNP AK1 esv37611 1 17019064 17026763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115303 S 6 0 1 Samples from several populations that are part of the HapMap project. ESPNP NA19240 nsv437205 1 17019120 17036231 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467086 S 60 0 1 Samples from several populations that are part of the HapMap project. ESPNP NA19139 dgv123e188 1 17022952 17051496 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1800806,esv1845060 M 6 2 0 ESPNP NA12239,NA18980 dgv41e1 1 17023403 17271137 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25180,essv4337,essv2412,essv3853,essv6855,essv1047,essv6198,essv7051,essv7481,essv3440,essv8890,essv5657,essv17409,essv3327,essv1975,essv5003,essv5761,essv934,essv18576,essv2114,essv3684 M 271 0 0 CROCC,ESPNP,MIR3675,MST1P9 NA10851,NA11840,NA12760,NA18526,NA18540,NA18558,NA18561,NA18563,NA18571,NA18612,NA18622,NA18942,NA18943,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18975,NA19171 nsv437206 1 17024300 17083261 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467087 S 60 0 1 Samples from several populations that are part of the HapMap project. ESPNP,MST1P9 NA18863 essv15944 1 17025105 17055906 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ESPNP NA18515 dgv7360e59 1 17028464 17125658 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35861,esv35866,esv36467,esv36705 M 6 0 4 ESPNP,MST1P9 NA12878,NA12891,NA12892,NA19238 esv37472 1 17028564 17042163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114996 S 6 0 1 Samples from several populations that are part of the HapMap project. ESPNP NA12892 dgv124e188 1 17029580 17048467 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1844308,esv1838968 M 6 2 0 ESPNP NA10851,NA18980 esv1792758 1 17029580 17248386 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array essv4426206 S 6 1 0 ESPNP,MIR3675,MST1P9 NA12239 esv37704 1 17033764 17093063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115503 S 6 0 1 Samples from several populations that are part of the HapMap project. ESPNP,MST1P9 NA19240 nsv511141 1 17035193 17046456 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625265 S 1 0 1 ESPNP 1 essv19867 1 17035600 17055906 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ESPNP NA12234 esv37795 1 17045070 17045664 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122388 S 6 0 1 Samples from several populations that are part of the HapMap project. ESPNP NA19239 esv1848837 1 17046439 17051496 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4414700 S 6 1 0 ESPNP NA18980 dgv125e188 1 17048732 17125286 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1793283,esv1813250,esv1803704,esv1805852,esv1809265,esv1803474,esv1818618 M 6 7 0 MST1P9 NA12239,NA18517,NA18576 esv2440890 1 17050802 17054181 CNV Gain McKernan_et_al_2009 19546169 Sequencing Not specified essv5191715 S 1 1 0 "" NA18507 dgv22n67 1 17050837 17106654 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821787,nsv821798,nsv821776,nsv821810 M 31 4 0 MST1P9 AK16,AK18,AK2,AK4 nsv3965 1 17052511 17085042 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5340,nssv3893 M 9 2 0 MST1P9 NA12878,NA19129 esv39682 1 17054339 17054550 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121907 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv127e188 1 17054968 17087350 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1826558,esv1831341 M 6 2 0 MST1P9 NA15510 esv36701 1 17057464 17072063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115879 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 dgv128e188 1 17067786 17124897 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1848479,esv1846970 M 6 0 2 MST1P9 NA18980 esv35912 1 17071164 17086763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116123 S 6 0 1 Samples from several populations that are part of the HapMap project. MST1P9 NA19239 nsv498664 1 17071423 17073212 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585404 S 9 0 1 "" dgv130e188 1 17080461 17124697 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1842973,esv1847457,esv1850758 M 6 0 3 MST1P9 NA18980 dgv131e188 1 17081892 17125286 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1802014,esv1791816,esv1816501,esv1804181,esv1810808 M 6 5 0 MST1P9 NA12239,NA18517,NA18576 esv35793 1 17085264 17089263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116580 S 6 0 1 Samples from several populations that are part of the HapMap project. MST1P9 NA19239 esv35444 1 17094964 17106363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115359 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv1845723 1 17099138 17120910 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4414927 S 6 0 1 "" NA18980 esv37713 1 17105164 17109263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115574 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv36897 1 17116064 17119963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113330 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 esv36753 1 17119164 17125658 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113141 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 dgv7362e59 1 17175659 17183463 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36331,esv36407,esv36175,esv37331,esv37628,esv35300 M 6 0 6 "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv26111 1 17175722 17281753 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11182,esv20155,esv11657,esv15416,esv15181,esv20295,esv18904,esv16106 M 451 16 16 CROCC,MIR3675 NA07037,NA07045,NA11894,NA11993,NA12156,NA12414,NA12878,NA15510,NA18502,NA18505,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19257 nsv821037 1 17175722 17281753 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420258 S 1 1 0 CROCC,MIR3675 NA10851 esv1831908 1 17176558 17186153 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4369085 S 6 1 0 MIR3675 NA15510 esv1832760 1 17176558 17194558 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4372259 S 6 1 0 MIR3675 NA15510 dgv133e188 1 17177033 17262247 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1833681,esv1833963 M 6 2 0 CROCC,MIR3675 NA10851 nsv834258 1 17177359 17280949 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443407,nssv1443395,nssv1443418 M 95 0 3 CROCC,MIR3675 esv1823401 1 17181032 17296538 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4374783 S 6 0 1 CROCC,MIR3675 NA18576 nsv834269 1 17181778 17365026 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443595,nssv1443529,nssv1443651,nssv1443518,nssv1443573,nssv1443429,nssv1443640,nssv1443584,nssv1443484,nssv1443562,nssv1443473,nssv1443551,nssv1443629,nssv1443540,nssv1443495,nssv1443506,nssv1443462,nssv1443662,nssv1443440,nssv1443617,nssv1443606,nssv1443451 M 95 0 22 ATP13A2,CROCC,MFAP2,MIR3675,SDHB dgv7363e59 1 17182164 17277363 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37025,esv35324 M 6 0 2 CROCC,MIR3675 NA19239,NA19240 esv37015 1 17185464 17189963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113168 S 6 0 1 Samples from several populations that are part of the HapMap project. MIR3675 NA19238 esv990069 1 17190862 17262247 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3586006 S 3 0 1 CROCC HuRef dgv7364e59 1 17193664 17206663 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36630,esv35269 M 6 0 2 "" NA12878,NA19238 nsv442727 1 17195155 17262247 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CROCC dgv134e188 1 17195155 17274319 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1820997,esv1851735,esv1851039,esv1801663,esv1835904,esv1792277,esv1843360,esv1830784,esv1846844,esv1837334,esv1812463 M 6 11 0 CROCC NA10851,NA12239,NA15510,NA18517,NA18576,NA18980 esv165969 1 17204164 17208663 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160928 S 185 0 13 Samples from several populations that are part of the HapMap project. "" NA11830,NA11894,NA12006,NA12043,NA12155,NA12878,NA12892,NA18570,NA18592,NA18593,NA18947,NA19108,NA19207 esv161116 1 17205664 17209963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv494515,essv441033,essv442772,essv451467,essv483623,essv474320 M 185 0 6 Samples from several populations that are part of the HapMap project. "" NA11831,NA12750,NA18519,NA18552,NA18603,NA18972 esv165594 1 17207564 17212663 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160658 S 185 0 5 Samples from several populations that are part of the HapMap project. "" NA11995,NA12156,NA18592,NA19098,NA19207 dgv23n67 1 17207577 17272607 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821821,nsv821832 M 31 2 0 CROCC NA18547,NA18592 nsv433184 1 17208451 17263377 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463065 S 9 0 1 Samples from several populations that are part of the HapMap project. CROCC NA12156 esv29988 1 17209332 17252167 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84227 S 2 0 1 CROCC HuRef esv160050 1 17209364 17213763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv477636,essv494586,essv458877,essv443757,essv453607,essv432637,essv430376,essv455562,essv452874,essv430895 M 185 0 10 Samples from several populations that are part of the HapMap project. "" NA07037,NA11881,NA12155,NA12414,NA12749,NA12761,NA12891,NA18552,NA18562,NA18964 esv2421455 1 17209603 17267496 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5138642,essv5147205,essv5002999,essv5145900,essv5061673,essv5048317,essv5024108,essv5027457,essv5127759,essv5064272,essv5102184,essv5130948,essv5143147,essv5047731,essv5036337,essv5012630,essv5010821,essv5148185,essv5088695,essv5147986,essv5008077,essv5060841,essv5122841,essv5121813,essv5004735,essv5153944,essv5136646,essv5041587,essv5064258,essv5009826,essv5112549,essv5071124,essv5150313,essv5156750,essv5019668,essv5065490,essv5096642,essv5065233,essv5030387,essv5106194,essv5111876,essv5098315,essv5034553,essv5080865,essv5091035,essv5027775,essv5060750,essv5054193,essv5098055,essv5159099,essv5064954,essv5114344,essv5025020,essv5157311,essv5092816,essv5032435,essv5142604,essv5035199,essv5124305,essv5063794,essv5139461,essv5036913,essv5160036,essv5020012,essv5016987,essv5053913,essv5071772,essv5095772,essv5074168,essv5044467,essv5123038,essv5072259,essv5050331,essv5031356,essv5009440,essv5119538,essv5058603,essv5099226,essv5054318,essv5127811,essv5018172,essv5059805,essv5134440,essv5037760,essv5145780,essv5035947,essv5086003,essv5128068,essv5021931,essv5008007,essv5101825,essv5113257,essv5117231,essv5102550,essv5159525,essv5136415,essv5003961,essv5050841,essv5006467,essv5021994,essv5084771,essv5111201,essv5146549,essv5084421,essv5067874,essv5133764,essv5043100,essv5042829,essv5159156,essv5091264,essv5047270,essv5139328,essv5084952,essv5021628,essv5121681,essv5149250,essv5141602,essv5120827,essv5010139,essv5060130,essv5007503,essv5124332,essv5035883,essv5130484,essv5126792,essv5123076,essv5040865,essv5132756,essv5123887,essv5076924,essv5109059,essv5090798,essv5064371,essv5147022,essv5119235,essv5155101,essv5021138,essv5030657,essv5091243,essv5064028,essv5056144,essv5137317,essv5078545,essv5044898,essv5148378,essv5026844,essv5037077,essv5063859,essv5029256,essv5012961,essv5124242,essv5094689,essv5086951,essv5103855,essv5134163,essv5081270,essv5123097,essv5083100,essv5004444,essv5090959,essv5026401,essv5069059,essv5114395,essv5079291,essv5091949,essv5159889,essv5043721,essv5115299,essv5003922,essv5103826,essv5121588,essv5107567,essv5051143,essv5141036,essv5105069,essv5130675,essv5047004,essv5009278,essv5112366,essv5093178,essv5104217,essv5135041,essv5061003,essv5014694,essv5146659,essv5142986,essv5066068,essv5106778,essv5119957,essv5134195,essv5006519,essv5042364,essv5105240,essv5031423,essv5075234,essv5117717,essv5032170,essv5097100,essv5033120,essv5069984,essv5088248,essv5084910,essv5026386,essv5149086,essv5081290,essv5110707,essv5059149,essv5143890,essv5157953,essv5107685,essv5004579,essv5037942,essv5002576,essv5054766,essv5075589,essv5089240,essv5133655,essv5115933,essv5117269,essv5045095,essv5041169,essv5004269,essv5062068,essv5076785,essv5059015,essv5014551,essv5090302,essv5040328,essv5045172,essv5030042,essv5139551,essv5098068,essv5022740,essv5018074,essv5096769,essv5058107,essv5113019,essv5099089,essv5010067,essv5157375,essv5083755,essv5139651,essv5003158,essv5017794,essv5002754,essv5065387,essv5043975,essv5121029,essv5109355,essv5002508,essv5096160,essv5010456,essv5094810,essv5103771,essv5021954,essv5037567,essv5019753,essv5099314,essv5077378,essv5016691,essv5033589,essv5122630,essv5037484,essv5028380,essv5158152,essv5121078,essv5006951,essv5051739,essv5151985,essv5037850,essv5159643,essv5007479,essv5154202,essv5095375,essv5152984,essv5112080,essv5079911,essv5039517,essv5014326,essv5007786,essv5149295,essv5032838,essv5041786,essv5065761,essv5113041,essv5050900,essv5084521,essv5130594,essv5148716,essv5061190,essv5098676,essv5105480,essv5031308,essv5020880,essv5117452,essv5065875,essv5047063,essv5117088,essv5049633,essv5024519,essv5051588,essv5076075,essv5147413,essv5081843,essv5022534,essv5153800,essv5092788,essv5143110,essv5079342,essv5013009,essv5004154,essv5008000,essv5157797,essv5069410,essv5056899,essv5005212,essv5017332,essv5102812,essv5063353,essv5093977,essv5118820,essv5155596,essv5067082,essv5105050,essv5016348,essv5066540,essv5034838,essv5020252,essv5045942,essv5048297,essv5006490,essv5110272,essv5070553,essv5089028,essv5030908,essv5065850,essv5152854,essv5099230,essv5039437,essv5024993,essv5009191,essv5038858,essv5102014,essv5057016,essv5135140,essv5027231,essv5110120,essv5024133,essv5107317,essv5074466,essv5095836,essv5030772,essv5071290,essv5116575,essv5125345,essv5062523,essv5080701,essv5156813,essv5009199,essv5092468,essv5035906,essv5064411,essv5016687,essv5100179,essv5086531,essv5016821,essv5029931,essv5114829,essv5088408,essv5055357,essv5048413,essv5072067,essv5022891,essv5103415,essv5114338,essv5032830,essv5081176,essv5128838,essv5008849,essv5058624,essv5151178,essv5144538,essv5139716,essv5116384,essv5038258,essv5072329,essv5012897,essv5101917,essv5035516,essv5047898,essv5091443,essv5054059,essv5152392,essv5036548,essv5047562,essv5097936,essv5040406,essv5069245,essv5014180,essv5085572,essv5076493,essv5130528,essv5097921,essv5111803,essv5046634,essv5134482,essv5126766,essv5083511,essv5053053,essv5130303,essv5117997,essv5153278,essv5065977,essv5079599,essv5124285,essv5148464,essv5136757,essv5085965,essv5055429,essv5119346,essv5135966,essv5028561,essv5007838,essv5096758,essv5158666,essv5011869,essv5092490,essv5016121,essv5156413,essv5129083,essv5104436,essv5136108,essv5127846,essv5045249,essv5103759,essv5125865,essv5006744,essv5060943,essv5025494,essv5075006,essv5076373,essv5028085,essv5063672,essv5090873,essv5117045,essv5007779,essv5008791,essv5155086,essv5056267,essv5133449,essv5157609,essv5054964,essv5046536,essv5032394,essv5098012,essv5014507,essv5107122,essv5101186,essv5145356,essv5121490,essv5049281,essv5051893,essv5031413,essv5088205,essv5113280,essv5129387,essv5114280,essv5051017,essv5112506,essv5157006,essv5017379,essv5052144,essv5103322,essv5114019,essv5097885,essv5057556,essv5086692,essv5119277,essv5079108,essv5085246,essv5091838,essv5105478,essv5094424,essv5135370,essv5052392,essv5142856,essv5021911,essv5146134,essv5004468,essv5056012,essv5086014,essv5082429,essv5138727,essv5117492,essv5048396,essv5043135,essv5039821,essv5125312,essv5006977,essv5101426,essv5099962,essv5028158,essv5123196,essv5129159,essv5094626,essv5100613,essv5144065,essv5129041,essv5146796,essv5008648,essv5088681,essv5021274,essv5048230,essv5024608,essv5028001,essv5106735,essv5115530,essv5079835,essv5092744,essv5110435,essv5038223,essv5109258,essv5044592,essv5032316,essv5158627,essv5076597,essv5080108,essv5058801,essv5130485,essv5131352,essv5016066,essv5018177,essv5052461,essv5086298,essv5088822,essv5095343,essv5135695,essv5007504,essv5039355,essv5140347,essv5109088,essv5108682,essv5030388,essv5053255,essv5104802,essv5007344,essv5015446,essv5026768,essv5134811,essv5057110,essv5104607,essv5032469,essv5134308,essv5051919,essv5115772,essv5056651,essv5042625,essv5114781,essv5117284,essv5087089,essv5142022,essv5114680,essv5065940,essv5108762,essv5150991,essv5101859,essv5112594,essv5131593,essv5153097,essv5064110,essv5026459,essv5083668,essv5077558,essv5155913,essv5105808,essv5081157,essv5093740,essv5097008,essv5065791,essv5055362,essv5078646,essv5066756,essv5060546,essv5124993,essv5040787,essv5042300,essv5136324,essv5078527,essv5019407,essv5032473,essv5062035,essv5157378,essv5086846,essv5123032,essv5041980,essv5146556,essv5048138,essv5049316,essv5160797,essv5160425,essv5085695,essv5147504,essv5064968,essv5015131,essv5103379,essv5044837,essv5104214,essv5047555,essv5082199,essv5121456,essv5152363,essv5024780,essv5098036,essv5136215,essv5041804,essv5071647,essv5102792,essv5106798,essv5090795,essv5002555,essv5110538,essv5083014,essv5059549,essv5081263,essv5071800,essv5041116,essv5070821,essv5111040,essv5045712,essv5033107,essv5082948,essv5077016,essv5006182,essv5051004,essv5019727,essv5092709,essv5051338,essv5030592,essv5019386,essv5124020,essv5058411,essv5017049,essv5103778,essv5016117,essv5061722,essv5122188,essv5107641,essv5125769,essv5066867,essv5096648,essv5002204,essv5022960,essv5074418,essv5061412,essv5099069,essv5135969,essv5095692,essv5046246,essv5117115,essv5039926,essv5018347,essv5084379,essv5027238,essv5101502,essv5143686,essv5111478,essv5095894,essv5098226,essv5053715,essv5052108,essv5103126,essv5005847,essv5058264,essv5051979,essv5138662,essv5106431,essv5007467,essv5075073,essv5152305,essv5051479,essv5106448,essv5075339,essv5046901,essv5047389,essv5113637,essv5026223,essv5151782,essv5130918,essv5055587,essv5078913,essv5133749,essv5087014,essv5160566,essv5048257,essv5050835,essv5113457,essv5015485,essv5027419,essv5022653,essv5133460,essv5030913,essv5045959,essv5089873,essv5004085,essv5011659,essv5130759,essv5105512,essv5049622,essv5026732,essv5039612,essv5071137,essv5048039,essv5143625,essv5118836,essv5057234,essv5029838,essv5134265,essv5023433,essv5086652,essv5032089,essv5136376,essv5056874,essv5089151,essv5152014,essv5130731,essv5056674,essv5048632,essv5114037,essv5033382,essv5085316,essv5066838,essv5075151,essv5084328,essv5093717,essv5058964,essv5141584,essv5041206,essv5076127,essv5003156,essv5079526,essv5127120,essv5126598,essv5090458,essv5046748,essv5073684,essv5101695,essv5029426,essv5096269,essv5119616,essv5020555,essv5152822,essv5102689,essv5076471,essv5157199,essv5128349,essv5096754,essv5105910,essv5078659,essv5046441,essv5090637,essv5057304,essv5111824,essv5133688,essv5009673,essv5115411,essv5018174,essv5072970,essv5128437,essv5129917,essv5133268,essv5104936,essv5116817,essv5060560,essv5045814,essv5054679,essv5148048,essv5068855,essv5096519,essv5119844,essv5059367,essv5120699,essv5089140,essv5019224,essv5072037,essv5074373,essv5014810,essv5159082,essv5042763,essv5122596,essv5065965,essv5085304,essv5047460,essv5040075,essv5160920,essv5005544,essv5077283,essv5048475,essv5021982,essv5140684,essv5103479,essv5147835,essv5145666,essv5117383,essv5118129,essv5083720,essv5085115,essv5065477,essv5093849,essv5009030,essv5120412,essv5044987,essv5128315,essv5087882,essv5070319,essv5106741,essv5055998,essv5055154,essv5015676,essv5147309,essv5045122,essv5110166,essv5057255,essv5133752,essv5103961,essv5115978,essv5028804,essv5127109,essv5115989,essv5128868,essv5121988,essv5006486,essv5137608,essv5083861,essv5160258,essv5017352,essv5123426,essv5049144,essv5127738,essv5146488,essv5030022,essv5075932,essv5085767,essv5071444,essv5100525,essv5150465,essv5017890,essv5105600,essv5103286,essv5054086,essv5084304 M 1184 850 0 CROCC NA06984,NA06985,NA06986,NA06991,NA06995,NA06997,NA07000,NA07014,NA07022,NA07031,NA07045,NA07051,NA07345,NA07346,NA07347,NA07349,NA07435,NA10835,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10861,NA10863,NA10865,NA11831,NA11832,NA11840,NA11843,NA11891,NA11892,NA11918,NA11920,NA11931,NA11992,NA11994,NA12003,NA12006,NA12044,NA12045,NA12056,NA12057,NA12144,NA12154,NA12234,NA12248,NA12264,NA12273,NA12275,NA12282,NA12286,NA12287,NA12335,NA12340,NA12341,NA12342,NA12344,NA12347,NA12375,NA12383,NA12399,NA12400,NA12413,NA12489,NA12708,NA12740,NA12748,NA12749,NA12751,NA12752,NA12753,NA12760,NA12762,NA12763,NA12766,NA12776,NA12778,NA12812,NA12813,NA12814,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12889,NA12890,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17974,NA17975,NA17976,NA17977,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18144,NA18146,NA18150,NA18152,NA18153,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18610,NA18612,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18647,NA18670,NA18682,NA18685,NA18689,NA18694,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18854,NA18855,NA18857,NA18859,NA18860,NA18862,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18910,NA18911,NA18912,NA18914,NA18916,NA18923,NA18924,NA18925,NA18930,NA18933,NA18935,NA18939,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18963,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18997,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19010,NA19027,NA19038,NA19044,NA19046,NA19054,NA19056,NA19059,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19077,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19088,NA19093,NA19094,NA19095,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19114,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19146,NA19149,NA19150,NA19151,NA19152,NA19153,NA19161,NA19172,NA19175,NA19176,NA19179,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19208,NA19209,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19315,NA19316,NA19317,NA19318,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19372,NA19373,NA19374,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19391,NA19393,NA19394,NA19396,NA19398,NA19399,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19448,NA19451,NA19452,NA19456,NA19457,NA19463,NA19467,NA19468,NA19471,NA19474,NA19625,NA19649,NA19650,NA19651,NA19653,NA19657,NA19658,NA19659,NA19662,NA19663,NA19664,NA19665,NA19675,NA19677,NA19678,NA19680,NA19685,NA19686,NA19703,NA19704,NA19705,NA19708,NA19712,NA19713,NA19714,NA19719,NA19720,NA19721,NA19723,NA19724,NA19726,NA19748,NA19750,NA19751,NA19755,NA19756,NA19759,NA19761,NA19762,NA19770,NA19771,NA19772,NA19773,NA19777,NA19789,NA19794,NA19796,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19904,NA19914,NA19915,NA19916,NA19917,NA19918,NA19921,NA19982,NA19983,NA20126,NA20129,NA20279,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20341,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20363,NA20502,NA20505,NA20506,NA20508,NA20510,NA20512,NA20517,NA20518,NA20521,NA20522,NA20525,NA20527,NA20528,NA20529,NA20534,NA20540,NA20541,NA20542,NA20543,NA20581,NA20582,NA20586,NA20588,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20761,NA20765,NA20766,NA20769,NA20771,NA20772,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20792,NA20795,NA20796,NA20799,NA20800,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20846,NA20849,NA20851,NA20853,NA20854,NA20856,NA20858,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20883,NA20885,NA20887,NA20888,NA20890,NA20891,NA20892,NA20894,NA20906,NA20907,NA20911,NA21086,NA21088,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21102,NA21103,NA21106,NA21108,NA21109,NA21113,NA21115,NA21118,NA21119,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21309,NA21316,NA21318,NA21333,NA21336,NA21344,NA21352,NA21353,NA21355,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21418,NA21421,NA21423,NA21435,NA21436,NA21439,NA21440,NA21441,NA21447,NA21448,NA21451,NA21454,NA21455,NA21457,NA21473,NA21476,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21512,NA21513,NA21517,NA21520,NA21521,NA21522,NA21523,NA21525,NA21526,NA21527,NA21528,NA21529,NA21574,NA21575,NA21576,NA21577,NA21580,NA21582,NA21587,NA21596,NA21597,NA21600,NA21601,NA21608,NA21611,NA21614,NA21615,NA21616,NA21617,NA21631,NA21632,NA21634,NA21635,NA21648,NA21678,NA21682,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21723,NA21733,NA21738,NA21739,NA21768,NA21776,NA21784,NA21825 esv1795097 1 17210774 17242731 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4398133 S 6 1 0 "" NA12239 esv166109 1 17211564 17216263 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160212 S 185 0 11 Samples from several populations that are part of the HapMap project. "" NA12155,NA12156,NA18507,NA18519,NA18547,NA18570,NA18593,NA18858,NA18940,NA19171,NA19238 nsv834280 1 17214713 17449501 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443673,nssv1443752,nssv1443684,nssv1443706,nssv1443695,nssv1443741,nssv1443728,nssv1443717 M 95 0 8 ATP13A2,CROCC,MFAP2,PADI2,SDHB esv160887 1 17216864 17221663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv431889,essv452845,essv430475,essv432792,essv453418,essv430412,essv436980,essv484611 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07037,NA11995,NA12414,NA12891,NA18593,NA18861,NA18940,NA18964 essv24221 1 17217069 17271137 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CROCC NA12144 nsv437207 1 17217265 17257302 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467088 S 60 0 1 Samples from several populations that are part of the HapMap project. CROCC NA19208 dgv135e188 1 17217265 17274319 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1792972,esv1798001,esv1795940 M 6 3 0 CROCC NA12239 dgv24n67 1 17222692 17272635 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821876,nsv821887,nsv821843 M 31 3 0 CROCC NA18552,NA18566,NA18947 esv160862 1 17224864 17230763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv478964,essv432705,essv457561,essv449687 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA07037,NA18547,NA18858,NA19108 dgv136e188 1 17225296 17249584 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1803385,esv1793052 M 6 2 0 CROCC NA12239 dgv7365e59 1 17227864 17231363 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36269,esv37212 M 6 0 2 "" NA12878,NA12891 dgv25n67 1 17229814 17261298 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821898,nsv821865,nsv821854 M 31 3 0 CROCC AK2,NA18537,NA18972 dgv137e188 1 17229875 17284828 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1805940,esv1809601,esv1807748 M 6 0 3 CROCC NA18517 esv1828322 1 17230075 17255674 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4375279 S 6 0 1 CROCC NA15510 dgv7366e59 1 17231564 17236263 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35807,esv36559 M 6 0 2 "" NA12878,NA12891 esv42845 1 17233045 17233896 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv122861 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv1817155 1 17235137 17245635 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4416137 S 6 1 0 "" NA18576 nsv508947 1 17236312 17337610 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623774,nssv619776 M 4 2 0 ATP13A2,CROCC,MFAP2 NA10860,NA18994 esv159619 1 17236764 17241163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv474967,essv479197,essv453557,essv490329,essv455416,essv445246,essv467318,essv469314,essv483277,essv431452,essv494910,essv473326,essv439706,essv487945 M 185 0 14 Samples from several populations that are part of the HapMap project. "" NA12155,NA12156,NA12891,NA18498,NA18547,NA18552,NA18570,NA18592,NA18608,NA18940,NA18947,NA18972,NA19171,NA19238 dgv138e188 1 17237071 17267496 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1850669,esv1846964 M 6 2 0 CROCC NA18980 dgv139e188 1 17237419 17261298 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1829510,esv1830277,esv1804398,esv1806906,esv1825242,esv1826118 M 6 0 6 CROCC NA15510,NA18517 dgv140e188 1 17238024 17277383 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1810374,esv1807671 M 6 0 2 CROCC NA18517 esv160680 1 17238564 17242863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv433684,essv455238,essv441103,essv447928,essv436909,essv430066,essv481143,essv450477,essv463021,essv482627,essv492620,essv470350,essv466867,essv487389,essv431694,essv454190,essv437743,essv441349,essv435121,essv460044,essv444162,essv461862,essv459643,essv480546,essv451865,essv446137,essv481394,essv467016,essv460851,essv468395,essv453598,essv484187,essv459698,essv455443,essv464940,essv473127,essv487927,essv439317,essv443341,essv473404,essv452936,essv451721,essv438081,essv474372,essv445455,essv444446,essv439656,essv445924,essv490839,essv477151,essv467467,essv467934,essv489308,essv470514,essv437460,essv469802,essv495015,essv468778 M 185 0 58 Samples from several populations that are part of the HapMap project. "" NA06986,NA06994,NA07346,NA07347,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA11994,NA12003,NA12044,NA12045,NA12154,NA12155,NA12716,NA12761,NA12813,NA12878,NA12891,NA18489,NA18498,NA18499,NA18504,NA18510,NA18519,NA18520,NA18522,NA18526,NA18537,NA18570,NA18593,NA18608,NA18609,NA18638,NA18853,NA18856,NA18870,NA18871,NA18912,NA18940,NA18953,NA18959,NA18960,NA18961,NA18964,NA18967,NA18971,NA18974,NA19098,NA19102,NA19137,NA19153,NA19159,NA19171,NA19172,NA19239 esv1823780 1 17239393 17247518 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4413469 S 6 1 0 "" NA18576 esv165876 1 17240064 17245463 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161024 S 185 0 8 Samples from several populations that are part of the HapMap project. "" NA12156,NA12761,NA12892,NA18547,NA18608,NA18858,NA18971,NA19238 esv166013 1 17243264 17248263 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160465 S 185 0 5 Samples from several populations that are part of the HapMap project. "" NA11993,NA11995,NA18523,NA18547,NA18974 esv1851218 1 17245635 17249584 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4414639 S 6 1 0 CROCC NA18980 esv1851350 1 17245635 17261738 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4414858 S 6 1 0 CROCC NA18980 nsv482201 1 17248445 17299474 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558562 S 1 1 0 CROCC KB1 nsv437208 1 17248885 17268329 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467089 S 60 0 1 Samples from several populations that are part of the HapMap project. CROCC NA19240 esv1794342 1 17249584 17331676 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human1Mv1 DNA Analysis BeadChip essv4380477 S 6 1 0 ATP13A2,CROCC,MFAP2 NA12239 esv160702 1 17249614 17252113 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv459130,essv470756,essv465403,essv461500,essv479329,essv476416,essv491440,essv485752 M 185 0 8 Samples from several populations that are part of the HapMap project. CROCC NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv438355 1 17253828 17265366 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469296,nssv469518,nssv469185,nssv469407 M 269 0 4 Samples from several populations that are part of the HapMap project. CROCC NA19207,NA19208,NA19238,NA19240 nsv471438 1 17254695 17281238 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548311,nssv548289,nssv548300 M 3 3 0 CROCC esv1839836 1 17257302 17265327 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4399989 S 6 1 0 CROCC NA10851 esv161290 1 17257364 17262263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv482370,essv474505,essv484091,essv485136,essv490542,essv455555,essv436988,essv478900,essv447419,essv481520,essv494903 M 185 0 11 Samples from several populations that are part of the HapMap project. CROCC NA06994,NA11993,NA11995,NA12155,NA12156,NA12892,NA18519,NA18547,NA18552,NA18593,NA18975 esv160001 1 17258964 17263263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv444118,essv445196,essv478772,essv474936,essv466991,essv451949,essv435078,essv431696,essv466140,essv481486,essv478097,essv458695,essv484152,essv465277,essv463653,essv452082,essv466278,essv457863,essv484638,essv490402,essv429475,essv430637,essv433257,essv437413 M 185 0 24 Samples from several populations that are part of the HapMap project. CROCC NA06994,NA11832,NA11881,NA11894,NA11995,NA12004,NA12043,NA12156,NA12489,NA12716,NA12749,NA12761,NA12892,NA18499,NA18547,NA18550,NA18571,NA18577,NA18593,NA18861,NA18940,NA18947,NA19147,NA19238 esv161081 1 17266264 17271163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484160,essv430541,essv477884,essv453534,essv485321 M 185 0 5 Samples from several populations that are part of the HapMap project. CROCC NA06994,NA11881,NA11995,NA12891,NA18861 dgv7367e59 1 17269764 17273363 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36356,esv35439,esv35739 M 6 0 3 CROCC NA12878,NA12891,NA12892 esv161192 1 17270564 17274863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv439642,essv447811,essv469411,essv480332,essv481444,essv463616,essv437030,essv489464,essv489325,essv480887,essv445215 M 185 0 11 Samples from several populations that are part of the HapMap project. CROCC NA07346,NA07347,NA11894,NA12892,NA18520,NA18592,NA18593,NA18609,NA18949,NA19171,NA19238 esv39804 1 17278306 17280630 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122785,essv122329 M 6 0 2 Samples from several populations that are part of the HapMap project. CROCC NA19238,NA19239 esv37424 1 17278964 17281763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113531 S 6 0 1 Samples from several populations that are part of the HapMap project. CROCC NA12891 esv37363 1 17299589 17302563 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113541,essv115263,essv115464,essv114724,essv116024,essv113425 M 6 0 6 Samples from several populations that are part of the HapMap project. MFAP2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv161272 1 17300064 17302063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv478365,essv453073,essv456107,essv454163,essv457428,essv467529,essv441728,essv448767,essv439745,essv465865,essv472289,essv476710,essv460487,essv450291,essv448076,essv468886,essv493340,essv473840,essv480827,essv434128,essv438239,essv483340,essv477534,essv439021,essv482333,essv446677,essv466625,essv444014,essv477878,essv444779,essv443076,essv495290,essv483978,essv484903,essv458042,essv456773,essv434469,essv490497,essv470211,essv454559,essv464172,essv494496,essv431565,essv429497,essv433036,essv462619,essv432563,essv489747,essv442327,essv430828,essv463164,essv479253,essv451156,essv487339,essv436349,essv437181,essv474959,essv472846,essv436054,essv493795,essv486456,essv492658,essv469447,essv489001 M 185 0 64 Samples from several populations that are part of the HapMap project. MFAP2 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18976,NA18980,NA18981,NA19005 esv40666 1 17311821 17312065 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112392 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv35551 1 17337614 17339463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114555 S 6 0 1 Samples from several populations that are part of the HapMap project. ATP13A2 NA12878 esv41577 1 17391956 17392209 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112194 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv40750 1 17395632 17396199 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111473 S 6 0 1 Samples from several populations that are part of the HapMap project. PADI2 NA12878 esv2422314 1 17407393 17543122 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161240 S 181 1 0 PADI1,PADI2 ND01703 esv1821690 1 17410557 17490249 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanHap650Yv3 Genotyping BeadChip essv4383000 S 6 0 1 PADI2 NA18576 nsv460662 1 17412501 17485551 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537201 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PADI2 HGDP00896 esv269737 1 17441096 17441331 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508968,essv2498908,essv2511845,essv2507295,essv2495578,essv2505310,essv2500978,essv2496873,essv2501405,essv2494255,essv2507211,essv2504098,essv2512606,essv2501826,essv2496597,essv2493548,essv2510812,essv2506546 M 157 18 0 Samples from several populations that are part of the HapMap project. PADI2 NA18486,NA18489,NA18498,NA18499,NA18502,NA18505,NA18522,NA18853,NA18856,NA18870,NA18912,NA18916,NA19093,NA19108,NA19116,NA19137,NA19138,NA19239 esv274605 1 17441105 17441388 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579728,essv2579123,essv2580878 M 7 3 0 Samples from several populations that are part of the HapMap project. PADI2 NA19238,NA19239,NA19240 esv2422211 1 17452922 17484499 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161296 S 181 1 0 "" ND03833 esv2627134 1 17492270 17493050 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5378317 S 1 1 0 "" NA18507 esv164632 1 17492394 17492719 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv544823,essv549661,essv547979,essv548963,essv549198 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA12489,NA18563,NA18579,NA18944,NA19108 nsv512720 1 17492683 17493571 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625345 S 1 1 0 "" 1 esv1174577 1 17492714 17492714 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070341 S 2 1 0 "" HuRef esv42091 1 17518223 17518441 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111957 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv834291 1 17530817 17676712 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443774,nssv1443763 M 95 2 0 PADI1,PADI3,PADI4 esv41208 1 17534899 17535082 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112328 S 6 0 1 Samples from several populations that are part of the HapMap project. PADI1 NA12878 esv1489199 1 17535092 17535092 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883314 S 2 1 0 PADI1 HuRef esv40277 1 17549042 17549230 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111275 S 6 0 1 Samples from several populations that are part of the HapMap project. PADI1 NA12878 nsv470700 1 17551943 17594592 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547713 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PADI1,PADI3 HGDP00298 nsv511680 1 17566573 17569081 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626318 S 1 0 1 PADI1 1 esv1009642 1 17567948 17568235 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3578196 S 3 0 1 PADI1 HuRef esv1398963 1 17567997 17568285 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4132855 S 2 0 1 PADI1 HuRef nsv508958 1 17571342 17623132 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619777,nssv623775,nssv621083 M 4 3 0 PADI1,PADI3 NA10860,NA15510,NA18994 nsv521814 1 17586653 17592324 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694586 S 2026 0 1 PADI3 nsv516116 1 17592324 17613809 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666311,nssv654821,nssv668375,nssv669330,nssv691565 M 2026 5 0 PADI3 nsv4076 1 17609733 17621412 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv955 S 9 1 0 PADI3 NA19240 esv1667289 1 17615796 17615796 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808815 S 2 1 0 "" HuRef esv997286 1 17615802 17619428 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565762 S 3 1 0 "" HuRef esv165337 1 17630248 17630783 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv543929,essv546625,essv550041,essv544982,essv548930 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA12044,NA12144,NA18870,NA18907,NA18945 esv165101 1 17630251 17636334 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv549043,essv546188 M 185 0 2 Samples from several populations that are part of the HapMap project. PADI4 NA12249,NA18948 esv41789 1 17630260 17630778 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv119070,essv118723 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12891,NA19240 nsv511142 1 17674821 17681277 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625376 S 1 0 1 PADI4 1 esv33950 1 17675515 17677114 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101586,essv101249,essv95154,essv95433,essv93123,essv95861,essv92812,essv96134,essv96650,essv95937,essv94943,essv96455,essv100231,essv100601,essv96384 M 51 12 3 PADI4 21603,21618,21721,21847,21863,21911,21944,22007,22011,22127,22231,22261,22286,22298,22371 esv21592 1 17675886 17678930 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15492,esv15841,esv16374 M 451 0 14 PADI4 NA06985,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12489,NA12749,NA12828,NA15510 esv4441 1 17675893 17677762 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26882 S 1 0 1 Single Asian sample YH PADI4 YH nsv511681 1 17676000 17677698 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626319 S 1 0 1 PADI4 1 esv165657 1 17676173 17677665 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160842,esv161774,esv159696,esv162524,esv161918,esv161768,esv160807,esv162821 M 185 0 248 Samples from several populations that are part of the HapMap project. PADI4 NA06985,NA07000,NA07051,NA07346,NA07347,NA10847,NA11830,NA11832,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12144,NA12155,NA12156,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12760,NA12761,NA12763,NA12776,NA12828,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18603,NA18605,NA18609,NA18638,NA18853,NA18940,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18976,NA18980,NA18981,NA19005,NA19152,NA19153,NA19207,NA19257 dgv141e188 1 17676291 17681277 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1851263,esv1818075,esv1820660,esv1828525,esv1848016 M 6 0 5 PADI4 NA15510,NA18576,NA18980 dgv26n67 1 17676338 17677316 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821921,nsv821909 M 31 0 10 PADI4 AK10,AK18,AK2,AK6,NA18542,NA18547,NA18582,NA18592,NA18947,NA18951 dgv7368e59 1 17678318 17678669 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43671,esv39514,esv38680 M 6 0 8 PADI4 NA12878,NA19238,NA19239,NA19240 dgv7369e59 1 17684675 17685203 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37897,esv39203 M 6 0 6 PADI4 NA19238,NA19239,NA19240 dgv1546e59 1 17684748 17685094 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv165831,esv165228 M 185 0 101 PADI4 NA07000,NA07037,NA07051,NA07357,NA10847,NA11894,NA11920,NA11992,NA11995,NA12043,NA12249,NA12489,NA12717,NA12749,NA12750,NA12763,NA18489,NA18498,NA18504,NA18505,NA18508,NA18511,NA18517,NA18520,NA18522,NA18523,NA18526,NA18537,NA18550,NA18552,NA18558,NA18563,NA18564,NA18576,NA18579,NA18582,NA18592,NA18605,NA18609,NA18856,NA18861,NA18870,NA18916,NA18943,NA18947,NA18951,NA18953,NA18961,NA19093,NA19102,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240,NA19257 esv41112 1 17684760 17685105 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv118803,essv119215,essv119060 M 6 0 3 Samples from several populations that are part of the HapMap project. PADI4 NA19238,NA19239,NA19240 esv2590404 1 17704772 17706200 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5203286 S 1 0 1 PADI6 NA18507 esv162653 1 17704786 17705113 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv535804,essv537677 M 185 0 2 Samples from several populations that are part of the HapMap project. PADI6 NA11831,NA11992 esv2214804 1 17705422 17706069 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985556 S 1 0 1 PADI6 NA18507 esv2626551 1 17705607 17705918 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5305827 S 1 0 1 PADI6 NA18507 esv40991 1 17733212 17733579 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111930 S 6 0 1 Samples from several populations that are part of the HapMap project. RCC2 NA12878 dgv1547e59 1 17762564 17767063 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161171,esv159919 M 185 0 140 RCC2 NA06986,NA06994,NA07000,NA07037,NA07051,NA07346,NA07347,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA11994,NA11995,NA12003,NA12004,NA12043,NA12045,NA12154,NA12155,NA12156,NA12249,NA12287,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12813,NA12878,NA12892,NA18489,NA18498,NA18499,NA18501,NA18504,NA18510,NA18519,NA18520,NA18522,NA18523,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18579,NA18592,NA18593,NA18609,NA18638,NA18856,NA18858,NA18871,NA18909,NA18912,NA18940,NA18943,NA18944,NA18945,NA18949,NA18952,NA18953,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18974,NA18975,NA18976,NA18980,NA18981,NA19098,NA19102,NA19119,NA19129,NA19137,NA19138,NA19152,NA19153,NA19159,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19239,NA19240 esv161328 1 17763189 17765738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475716,essv485813,essv491216,essv461900,essv464969,essv479998,essv471056,essv458521 M 185 0 8 Samples from several populations that are part of the HapMap project. RCC2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36864 1 17763314 17766363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114383,essv113482,essv116129,essv115305 M 6 0 4 Samples from several populations that are part of the HapMap project. RCC2 NA12878,NA19238,NA19239,NA19240 nsv821932 1 17764499 17766919 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426379 S 31 1 0 RCC2 AK6 esv1802254 1 17804106 18082195 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4421763 S 6 0 1 ACTL8,ARHGEF10L NA12239 nsv4187 1 17829944 17863993 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2861 S 9 1 0 "" NA18555 nsv834302 1 17857931 18039947 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443796,nssv1443785 M 95 0 2 ARHGEF10L esv997027 1 17861778 17877078 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564910 S 3 0 0 ARHGEF10L HuRef esv35258 1 17865364 17867363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114041 S 6 0 1 Samples from several populations that are part of the HapMap project. ARHGEF10L NA12878 esv39280 1 17882380 17883108 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv117297,essv118488 M 6 0 2 Samples from several populations that are part of the HapMap project. ARHGEF10L NA19238,NA19240 esv43731 1 17882622 17882899 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38766 S 6 0 2 Samples from several populations that are part of the HapMap project. ARHGEF10L NA19238,NA19240 nsv818089 1 17887963 17903298 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417309 S 112 0 1 ARHGEF10L NA18608 nsv470701 1 17887963 17918600 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547714 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF10L HGDP00825 esv42136 1 17888042 17888326 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112754 S 6 0 1 Samples from several populations that are part of the HapMap project. ARHGEF10L NA12878 esv988531 1 17889411 17899949 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3563476 S 3 0 1 ARHGEF10L HuRef nsv460673 1 17892816 17918600 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537212 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF10L HGDP00553 esv163292 1 17922015 17922331 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv527069,essv528557 M 185 0 2 Samples from several populations that are part of the HapMap project. ARHGEF10L NA11919,NA12044 nsv4298 1 17941666 17962669 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8255 S 9 0 1 ARHGEF10L NA12156 esv1834621 1 17972321 17985109 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4415341 S 6 0 1 ARHGEF10L NA10851 esv42212 1 17982219 17982649 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111263 S 6 0 1 Samples from several populations that are part of the HapMap project. ARHGEF10L NA12878 nsv518693 1 17998777 18000627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696144 S 2026 0 1 ARHGEF10L esv159840 1 17999864 18004663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv443287,essv475263,essv447370,essv495163 M 185 0 4 Samples from several populations that are part of the HapMap project. ARHGEF10L NA12044,NA12776,NA18522,NA18975 esv161104 1 18000914 18003913 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491496,essv479390,essv471362,essv464319,essv461857,essv484494,essv458336,essv476228 M 185 0 8 Samples from several populations that are part of the HapMap project. ARHGEF10L NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37803 1 18013477 18016654 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv123041 S 6 0 1 Samples from several populations that are part of the HapMap project. ARHGEF10L NA19240 nsv512721 1 18015300 18015985 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625346 S 1 1 0 ARHGEF10L 1 nsv508248 1 18064405 18140305 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622757 S 4 0 1 ACTL8 NA18994 nsv518590 1 18073505 18074702 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696036 S 2026 0 1 "" esv41446 1 18077633 18077849 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111209 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv161140 1 18224131 18224131 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179718 M 24 "" esv275339 1 18230535 18236619 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585726 S 1250 0 1 "" esv269411 1 18271070 18271412 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511899,essv2509521,essv2504716,essv2496457,essv2509260,essv2493979,essv2507239,essv2493599,essv2501452,essv2510947,essv2493266,essv2509723 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18504,NA18508,NA18510,NA18517,NA18870,NA18871,NA18909,NA19093,NA19099,NA19116,NA19129 nsv834313 1 18281915 18489101 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443807,nssv1443818,nssv1443829 M 95 0 3 IGSF21 nsv508969 1 18312667 18378631 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619778,nssv623776 M 4 2 0 "" NA10860,NA18994 esv269972 1 18331363 18331792 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496899,essv2493973 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18871,NA19190 esv164001 1 18331415 18331575 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv552290,essv554809 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA18871,NA19190 nsv521926 1 18348784 18412381 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694696 S 2026 0 1 "" esv166218 1 18368085 18369084 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162364 S 185 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv162154 1 18369847 18370097 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv512613,essv533592,essv523509,essv522146 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA06986,NA11920,NA12004,NA12043 esv160364 1 18373764 18378063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv490220,essv445342,essv442714,essv447900,essv468233,essv465047,essv479675,essv445997,essv449141,essv456509,essv455590,essv451462,essv433598,essv470483,essv439564,essv482626,essv440002,essv485713,essv495004,essv469643 M 185 0 20 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA10847,NA11832,NA11919,NA11994,NA11995,NA12155,NA12750,NA12763,NA12828,NA18522,NA18603,NA18853,NA18981,NA19153,NA19171,NA19172,NA19238,NA19239 nsv526833 1 18374940 18377790 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703190 S 2026 0 1 "" esv164061 1 18378447 18378812 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv516711,essv529976 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA18856,NA18871 esv42745 1 18420163 18420404 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123215 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv161591 1 18428564 18432763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv437719,essv488287,essv437732,essv460274,essv430707,essv457943,essv466206,essv449186,essv429853,essv468315,essv468448,essv463252,essv470567,essv444519 M 185 0 14 Samples from several populations that are part of the HapMap project. "" NA10847,NA11919,NA12004,NA12043,NA12249,NA18853,NA18871,NA18909,NA18953,NA18967,NA18971,NA19098,NA19204,NA19240 esv161147 1 18433189 18435738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476419,essv491312,essv464895,essv470878,essv484578,essv480090,essv462114,essv458326 M 185 0 8 Samples from several populations that are part of the HapMap project. IGSF21 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35538 1 18433564 18435663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114542 S 6 0 1 Samples from several populations that are part of the HapMap project. IGSF21 NA12878 esv41735 1 18460384 18460848 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112291 S 6 0 1 Samples from several populations that are part of the HapMap project. IGSF21 NA12878 nsv834324 1 18500907 18681334 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443840 S 95 1 0 IGSF21 nsv4409 1 18506997 18540366 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8323 S 9 1 0 IGSF21 NA12156 nsv460684 1 18543784 18557745 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537223 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IGSF21 HGDP00554 nsv4520 1 18561919 18597077 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3912 S 9 1 0 IGSF21 NA12878 nsv528445 1 18579038 18600824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705040 S 2026 0 1 IGSF21 nsv834336 1 18626853 18813200 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443852 S 95 0 1 IGSF21,KLHDC7A nsv4631 1 18629501 18662260 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6396 S 9 1 0 IGSF21 NA12156 esv164463 1 18646001 18646074 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv551189,essv548411,essv542248 M 185 0 3 Samples from several populations that are part of the HapMap project. IGSF21 NA18916,NA19102,NA19114 esv43351 1 18657079 18657174 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv40265,esv37798,esv38738,esv39751 M 6 0 7 Samples from several populations that are part of the HapMap project. IGSF21 NA19238,NA19239,NA19240 esv994039 1 18657082 18657177 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3570521 S 3 0 1 IGSF21 HuRef esv43730 1 18681336 18681385 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39582 S 6 0 3 Samples from several populations that are part of the HapMap project. IGSF21 NA12878,NA19238,NA19240 esv41673 1 18683173 18683747 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111303 S 6 0 1 Samples from several populations that are part of the HapMap project. IGSF21 NA12878 nsv4743 1 18702595 18747810 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8453 S 9 0 1 IGSF21 NA12156 esv43020 1 18725693 18725953 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123189 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv259461 1 18792434 18792711 OTHER Complex Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv2393959,essv2394181 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv38810 1 18792532 18792635 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv120862,essv120398 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv995072 1 18792538 18792538 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3567950 S 3 1 0 "" HuRef nsv160887 1 18792540 18792540 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179465 M 24 "" esv1135568 1 18792601 18792601 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108538 S 2 1 0 "" HuRef nsv159998 1 18792609 18792609 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178576 M 24 "" esv275146 1 18800247 18807117 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585623 S 1250 0 1 "" nsv518311 1 18813026 18813445 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695742 S 2026 0 1 "" nsv4854 1 18872931 18918581 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6404 S 9 0 1 "" NA12156 nsv460706 1 18893592 18908865 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537241 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01278 esv1600907 1 18924634 18924704 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315808 S 2 0 1 "" HuRef nsv4965 1 18931812 18965386 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5358 S 9 1 0 PAX7 NA19129 esv36140 1 18955114 18960313 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113288 S 6 0 1 Samples from several populations that are part of the HapMap project. PAX7 NA19238 esv41697 1 18956610 18956868 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110636 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv161710 1 18972389 18974938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv479956,essv458992,essv464873,essv470749,essv485172,essv461520,essv475337,essv492700 M 185 0 8 Samples from several populations that are part of the HapMap project. PAX7 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36780 1 18972714 18974613 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113959 S 6 0 1 Samples from several populations that are part of the HapMap project. PAX7 NA12878 nsv5076 1 18985602 19030274 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8574 S 9 0 1 PAX7 NA12156 nsv506920 1 18995478 19001478 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619225 S 4 1 0 PAX7 NA10860 esv165239 1 19048485 19048551 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv548291 S 185 0 1 Samples from several populations that are part of the HapMap project. PAX7 NA19005 esv2599950 1 19052489 19052640 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5276923 S 1 0 1 PAX7 NA18507 esv160138 1 19061964 19066463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475228,essv482713,essv482617,essv440061,essv437928,essv459466 M 185 0 6 Samples from several populations that are part of the HapMap project. PAX7 NA12776,NA18510,NA18579,NA18871,NA18981,NA19172 esv1070523 1 19070964 19070964 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207695 S 2 1 0 PAX7 HuRef nsv5187 1 19082078 19126984 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8645 S 9 0 1 "" NA12156 esv161508 1 19126064 19130663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv447665,essv441128,essv437799,essv442964,essv446150,essv468320,essv489299,essv466481 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA11831,NA11919,NA11994,NA12043,NA12044,NA18520,NA18871,NA18975 esv161777 1 19144902 19145229 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv537510,essv533691 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA11831,NA12004 esv42484 1 19148608 19149030 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112726 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2589469 1 19151146 19152623 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5385528 S 1 0 1 "" NA18507 esv162169 1 19151662 19152138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv533128,essv534623,essv534243,essv529025,essv535309,essv499114,essv528008 M 185 0 7 Samples from several populations that are part of the HapMap project. "" NA18501,NA18537,NA18572,NA18576,NA18638,NA19225,NA19240 esv3876 1 19151751 19152405 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26317 S 1 0 1 Single Asian sample YH "" YH esv165984 1 19151822 19152309 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162136 S 185 0 3 Samples from several populations that are part of the HapMap project. "" NA18572,NA18576,NA18638 esv43005 1 19151958 19152354 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123318 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv165486 1 19175055 19175708 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161795 S 185 0 7 Samples from several populations that are part of the HapMap project. TAS1R2 NA12154,NA18523,NA18940,NA18965,NA18980,NA19144,NA19172 esv160439 1 19180214 19182713 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485833,essv461561,essv459012,essv471529,essv465395,essv480419,essv476007,essv491571 M 185 0 8 Samples from several populations that are part of the HapMap project. TAS1R2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv7370e59 1 19182764 19186463 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36391,esv36446,esv36485 M 6 0 3 TAS1R2 NA19238,NA19239,NA19240 nsv834347 1 19242771 19468922 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443863 S 95 1 0 IFFO2,UBR4 nsv512722 1 19252421 19252907 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625347 S 1 1 0 IFFO2 1 dgv1548e59 1 19280764 19285063 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv161548,esv160232 M 185 0 109 IFFO2 NA06986,NA06994,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12045,NA12154,NA12155,NA12249,NA12287,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12813,NA12878,NA12891,NA18489,NA18498,NA18499,NA18504,NA18508,NA18510,NA18519,NA18520,NA18522,NA18526,NA18532,NA18537,NA18542,NA18545,NA18555,NA18562,NA18564,NA18571,NA18572,NA18576,NA18582,NA18592,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18942,NA18951,NA18953,NA18959,NA18960,NA18961,NA18964,NA18967,NA18968,NA18971,NA18975,NA18976,NA18981,NA19005,NA19093,NA19098,NA19102,NA19108,NA19114,NA19119,NA19137,NA19138,NA19147,NA19153,NA19159,NA19160,NA19171,NA19172,NA19190,NA19201,NA19207,NA19238,NA19239,NA19240,NA19257 esv160214 1 19280989 19283538 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv479446,essv471630,essv485339,essv461635,essv464900,essv458474,essv475459,essv491649 M 185 0 8 Samples from several populations that are part of the HapMap project. IFFO2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv7371e59 1 19281214 19284563 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36048,esv35899 M 6 0 4 IFFO2 NA12878,NA19238,NA19240 esv41912 1 19285814 19286004 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110648 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv163958 1 19291895 19292239 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv523405,essv515597 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA11920,NA12828 esv26882 1 19326226 19328463 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16565 S 451 0 1 "" NA18858 esv39176 1 19330418 19330643 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122015 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv40400 1 19344522 19344930 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112818 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv21929 1 19355651 19359876 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16928 S 451 0 1 "" NA19257 nsv5298 1 19365375 19402608 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3923,nssv2867,nssv5363 M 9 3 0 UBR4 NA12878,NA18555,NA19129 nsv508980 1 19368842 19424251 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621084 S 4 1 0 UBR4 NA15510 esv165767 1 19369836 19371156 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162310 S 185 0 8 Samples from several populations that are part of the HapMap project. "" NA11830,NA11894,NA18508,NA18511,NA18522,NA18523,NA19108,NA19147 esv43538 1 19385939 19388113 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv36489 S 6 0 3 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239 esv1963532 1 19386462 19386805 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528609 S 1 0 1 "" NA18507 esv29322 1 19386662 19387372 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11291 S 451 0 2 "" NA12006,NA19225 esv1848182 1 19386691 19393150 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4398520 S 6 0 1 "" NA18980 esv41744 1 19387381 19387581 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111108 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv42373 1 19387778 19387944 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111083 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv512723 1 19387799 19387917 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625348 S 1 1 0 "" 1 nsv470702 1 19542931 19579969 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547715 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA0090,MRTO4 HGDP01179 esv40284 1 19556348 19556929 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112667 S 6 0 1 Samples from several populations that are part of the HapMap project. KIAA0090 NA12878 dgv7372e59 1 19595979 19613437 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv38235,esv43074,esv39165 M 6 0 4 AKR7A3,AKR7L NA12878,NA12891,NA12892 esv165898 1 19599453 19614383 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163519 S 185 0 5 Samples from several populations that are part of the HapMap project. AKR7A3,AKR7L NA18523,NA18858,NA19144,NA19204,NA19209 esv26443 1 19599632 19614527 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11560 S 451 0 2 AKR7A3,AKR7L NA18523,NA18858 esv40034 1 19612444 19634764 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121319 S 6 0 1 Samples from several populations that are part of the HapMap project. AKR7A2,AKR7A3,LOC100506730 NA12891 esv43453 1 19644835 19645912 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38341 S 6 0 1 Samples from several populations that are part of the HapMap project. PQLC2 NA19240 esv2547343 1 19646723 19648947 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5328741 S 1 0 1 PQLC2 NA18507 esv43824 1 19647138 19648399 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv42364,esv37017,esv36956 M 6 0 4 Samples from several populations that are part of the HapMap project. PQLC2 NA19239,NA19240 esv166194 1 19647190 19648341 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162391 S 185 0 15 Samples from several populations that are part of the HapMap project. PQLC2 NA18489,NA18507,NA18510,NA18861,NA18871,NA18912,NA19108,NA19129,NA19171,NA19201,NA19225,NA19238,NA19239,NA19240,NA19257 esv40651 1 19697281 19697799 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112080 S 6 0 1 Samples from several populations that are part of the HapMap project. CAPZB NA12878 nsv834358 1 19727865 19906027 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443874 S 95 0 1 CAPZB nsv5409 1 19731298 19735874 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1934 S 9 1 0 CAPZB NA18555 esv163353 1 19741406 19741704 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv509516,essv528469,essv537657 M 185 0 3 Samples from several populations that are part of the HapMap project. CAPZB NA07346,NA11831,NA11919 esv40143 1 19741636 19742088 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112293 S 6 0 1 Samples from several populations that are part of the HapMap project. CAPZB NA12878 esv2398290 1 19761260 19761789 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666927 S 1 0 1 CAPZB NA18507 esv38708 1 19761300 19761683 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122694,essv122602,essv121258 M 6 0 3 Samples from several populations that are part of the HapMap project. CAPZB NA12891,NA19238,NA19239 esv3747 1 19761360 19761664 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26188 S 1 0 1 Single Asian sample YH CAPZB YH nsv471771 1 19761390 19761611 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646052 M 1.068 95 CAPZB esv6224 1 19761424 19761609 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28665 S 1 0 1 CAPZB SJK esv165519 1 19761428 19761593 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161885,esv163681 M 185 0 63 Samples from several populations that are part of the HapMap project. CAPZB NA07357,NA10847,NA10851,NA11830,NA11881,NA11894,NA11920,NA11993,NA12003,NA12004,NA12044,NA12045,NA12144,NA12156,NA12414,NA12749,NA12761,NA12763,NA12828,NA12891,NA18486,NA18501,NA18507,NA18517,NA18519,NA18520,NA18547,NA18558,NA18561,NA18572,NA18577,NA18609,NA18853,NA18861,NA18909,NA18940,NA18943,NA18945,NA18948,NA18953,NA18960,NA18961,NA18965,NA18972,NA18975,NA18980,NA19114,NA19116,NA19160,NA19210 esv43763 1 19761428 19761593 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39105 S 6 0 2 Samples from several populations that are part of the HapMap project. CAPZB NA12891,NA19239 esv160790 1 19810789 19813738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475863,essv462070,essv484885,essv480110,essv471353,essv464670,essv459020,essv492167 M 185 0 8 Samples from several populations that are part of the HapMap project. CAPZB NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36318 1 19811214 19813363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114196 S 6 0 1 Samples from several populations that are part of the HapMap project. CAPZB NA12878 esv1806178 1 19831939 19851031 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina HumanOmni1-Quad BeadChip essv4413599 S 6 0 1 "" NA18517 nsv470703 1 19849656 19904211 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547716 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01049 esv36296 1 19852864 19855113 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114139 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160336 1 19854264 19855413 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv440162,essv448690,essv488621,essv435931,essv494463,essv470235,essv456630,essv489756,essv453184,essv451138,essv433916,essv463745,essv467658,essv447334,essv460556,essv454740,essv433221,essv474309,essv494255,essv493393,essv476564,essv462830,essv438688,essv490353,essv482145,essv442956,essv444660,essv485859,essv483751,essv495326,essv444290,essv434796,essv457841,essv446559,essv466612,essv439207,essv478188,essv486421,essv454369,essv477255,essv472873,essv468514,essv437328,essv429414,essv481161,essv431608,essv449867,essv456205,essv431049,essv442036,essv457246,essv474830,essv441773,essv432386,essv465976,essv487239,essv448418,essv471958 M 185 0 58 Samples from several populations that are part of the HapMap project. "" NA06994,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18964,NA18965,NA18968,NA18971,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 nsv508991 1 19894068 20032404 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621085 S 4 1 0 C1orf151,C1orf15-NBL1,HTR6,NBL1,TMCO4 NA15510 esv273533 1 19898252 19898500 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579901,essv2580490,essv2580093 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv37735 1 19898262 19898312 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv119923,essv120551 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv1007512 1 19930229 19946810 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565353 S 3 0 0 C1orf151,C1orf15-NBL1 HuRef nsv159533 1 19954878 19954943 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178111 M 24 C1orf151,C1orf15-NBL1 esv42155 1 19958717 19958954 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111066 S 6 0 1 Samples from several populations that are part of the HapMap project. C1orf15-NBL1 NA12878 esv160819 1 19968664 19972963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv439601,essv465488,essv449327,essv434095,essv467041,essv488471,essv478079,essv440871,essv451459,essv442532,essv441410,essv430297,essv478350,essv490995,essv430464,essv457116,essv482411,essv465622,essv451277,essv435076,essv447020,essv471961,essv476577,essv453824,essv463259,essv456175,essv482832,essv486715,essv474417,essv474006,essv493094,essv429581,essv470540,essv438578,essv444263,essv430244,essv462883,essv494941,essv432447,essv429760,essv494366,essv449450,essv440607,essv437964,essv485409,essv433501,essv452097,essv444628,essv441072,essv455556,essv434407,essv435275,essv473208,essv429858,essv479811,essv481346,essv473682,essv459475,essv461612,essv460938,essv459441,essv491074,essv446045,essv456495,essv481532,essv447787,essv450437,essv464964,essv452535,essv488188,essv459749,essv442650,essv460055,essv488010,essv451792,essv483800,essv468275,essv439422,essv455280,essv493662,essv481172,essv453202,essv460102,essv469695,essv489241,essv433581,essv452303,essv438127,essv487751,essv455041,essv486217,essv445375,essv448465,essv482944,essv452686,essv440557,essv445912,essv487260,essv451699,essv469988,essv449613,essv492361,essv433354,essv485966,essv430823,essv444459,essv437100,essv473553,essv467821,essv467654,essv475768,essv469451,essv468631,essv441817,essv431439,essv477394,essv445257,essv454037,essv437634,essv483431,essv451021,essv487672,essv488939,essv432718,essv489537,essv436219,essv481632,essv446634,essv472854,essv490211 M 185 0 130 Samples from several populations that are part of the HapMap project. C1orf15-NBL1,NBL1 NA06986,NA06994,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA11830,NA11831,NA11832,NA11881,NA11919,NA11920,NA11992,NA11994,NA11995,NA12003,NA12045,NA12144,NA12154,NA12155,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12813,NA12828,NA12878,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18519,NA18520,NA18522,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18912,NA18916,NA18940,NA18942,NA18943,NA18949,NA18953,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18976,NA18980,NA19005,NA19093,NA19098,NA19099,NA19102,NA19114,NA19119,NA19129,NA19137,NA19138,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19209,NA19238,NA19239,NA19240,NA19257 esv2395760 1 19969294 19969727 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876743 S 1 0 1 C1orf15-NBL1,NBL1 NA18507 dgv7373e59 1 19969297 19969739 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv38512,esv38929 M 6 0 5 C1orf15-NBL1,NBL1 NA19238,NA19239,NA19240 esv41543 1 19969317 19969570 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110781 S 6 0 1 Samples from several populations that are part of the HapMap project. C1orf15-NBL1 NA19240 esv7640 1 19969401 19969456 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30081 S 1 1 0 C1orf15-NBL1 SJK esv165885 1 19969402 19969681 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163641 S 185 0 7 Samples from several populations that are part of the HapMap project. C1orf15-NBL1 NA12717,NA18489,NA18519,NA18545,NA19093,NA19116,NA19137 dgv7374e59 1 19969464 19972363 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37715,esv37159 M 6 0 6 C1orf15-NBL1,NBL1 NA12878,NA12892,NA19238,NA19239,NA19240 esv37678 1 19990664 19992563 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113985 S 6 0 1 Samples from several populations that are part of the HapMap project. HTR6 NA12878 esv161146 1 20004589 20007138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv462041,essv471029,essv459395,essv464441,essv485110,essv491212,essv476426,essv479737 M 185 0 8 Samples from several populations that are part of the HapMap project. HTR6 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv22015 1 20090476 20091962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11329 S 451 0 1 TMCO4 NA18861 esv42784 1 20096332 20096698 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123227 S 6 0 1 Samples from several populations that are part of the HapMap project. TMCO4 NA12878 nsv460717 1 20236731 20250799 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537249 S 1557 0 1 OTUD3,PLA2G2E NINDS_168 esv42092 1 20249531 20249943 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111023 S 6 0 1 Samples from several populations that are part of the HapMap project. PLA2G2E NA12878 esv39067 1 20253724 20258858 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121266 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12891 dgv7375e59 1 20257049 20257115 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39556,esv40334 M 6 0 3 "" NA12878,NA12891 dgv1549e59 1 20257049 20257122 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv164949,esv163409 M 185 0 16 "" NA06986,NA07357,NA11830,NA11840,NA11881,NA12154,NA12249,NA12717,NA12874,NA18571,NA18593,NA18603,NA18609,NA18948 esv269632 1 20257064 20257406 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522271,essv2566463,essv2571726,essv2563583,essv2536323,essv2572459,essv2528311,essv2570011,essv2535007,essv2576017,essv2530664,essv2576724,essv2537444,essv2524981,essv2562125,essv2547441,essv2546564 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07357,NA11830,NA11840,NA11881,NA12154,NA12249,NA12717,NA12873,NA12874,NA12878,NA12891,NA18571,NA18593,NA18603,NA18609,NA18948 esv272247 1 20257064 20257406 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582203,essv2582686 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv2564092 1 20258605 20259713 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5284149 S 1 1 0 "" NA18507 nsv527818 1 20305887 20380145 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704313 S 2026 1 0 PLA2G2A esv40293 1 20365322 20365832 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111819 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv165318 1 20396142 20396193 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv543379,essv546668,essv544035,essv546205,essv546375 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA12003,NA12249,NA12761,NA18510,NA18552 nsv5520 1 20397546 20442471 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5380 S 9 0 1 PLA2G2D,PLA2G5 NA19129 esv2435763 1 20406348 20411107 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5290042 S 1 0 1 PLA2G5 NA18507 esv2164449 1 20406962 20410799 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4803624 S 1 0 1 PLA2G5 NA18507 esv165521 1 20407002 20410758 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162709,esv162563 M 185 0 4 Samples from several populations that are part of the HapMap project. PLA2G5 NA18517,NA18871 esv25446 1 20407098 20410672 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21099 S 451 0 3 PLA2G5 NA18517,NA19129,NA19190 dgv142e188 1 20407222 20410375 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1810363,esv1812068 M 6 0 2 PLA2G5 NA18517 nsv519515 1 20408181 20409374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693891,nssv656533,nssv674889,nssv689562 M 2026 0 4 PLA2G5 esv1003821 1 20431069 20442978 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564297 S 3 0 1 PLA2G2D HuRef esv164076 1 20479588 20479924 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv507056,essv535807 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA11992,NA12003 esv161221 1 20495264 20499463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv489601,essv441634,essv432643,essv480632,essv482506,essv469263,essv433540,essv468291,essv469697,essv494429,essv493974,essv449369,essv448000,essv495198,essv491031,essv457527,essv439539,essv473727,essv440259,essv445795,essv430378,essv430114,essv435551,essv481684,essv477650,essv449199,essv452147,essv446929,essv439187,essv463614,essv488182,essv452467,essv445160,essv451499,essv456752,essv446114,essv473141,essv461077,essv459445,essv435435,essv437092,essv479010,essv452814,essv449733,essv444439,essv470638,essv468085,essv438142,essv437699,essv475700,essv436787,essv464870,essv487310,essv495131,essv487517,essv433677 M 185 0 56 Samples from several populations that are part of the HapMap project. PLA2G2C NA07000,NA07037,NA07051,NA07347,NA10847,NA11832,NA11881,NA11894,NA11919,NA11920,NA11994,NA12006,NA12414,NA12489,NA12717,NA12750,NA12751,NA12763,NA12813,NA18502,NA18504,NA18507,NA18510,NA18511,NA18522,NA18526,NA18532,NA18547,NA18552,NA18592,NA18593,NA18609,NA18853,NA18856,NA18858,NA18870,NA18912,NA18942,NA18945,NA18949,NA18953,NA18964,NA18981,NA19098,NA19108,NA19114,NA19131,NA19138,NA19152,NA19153,NA19159,NA19171,NA19172,NA19225,NA19239,NA19257 esv162049 1 20496715 20498146 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv568801 S 185 0 1 Samples from several populations that are part of the HapMap project. PLA2G2C NA12762 esv2606339 1 20496809 20498171 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5295790 S 1 0 1 PLA2G2C NA18507 esv2380061 1 20497001 20497921 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621106 S 1 0 1 PLA2G2C NA18507 esv166440 1 20497190 20497737 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163764,esv163662,esv163899,esv164704,esv163221 M 185 0 183 Samples from several populations that are part of the HapMap project. PLA2G2C NA06994,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA11829,NA11881,NA11894,NA11918,NA11919,NA11920,NA11994,NA12414,NA12489,NA12717,NA12750,NA12751,NA12892,NA18486,NA18498,NA18502,NA18510,NA18511,NA18519,NA18520,NA18522,NA18526,NA18532,NA18563,NA18592,NA18593,NA18609,NA18853,NA18856,NA18858,NA18861,NA18907,NA18912,NA18944,NA18945,NA18952,NA18953,NA18959,NA18981,NA19093,NA19098,NA19114,NA19116,NA19138,NA19152,NA19159,NA19172,NA19190,NA19225,NA19238,NA19239,NA19257 esv43705 1 20497190 20497737 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv41134,esv39097,esv38593,esv38318,esv37835 M 6 0 10 Samples from several populations that are part of the HapMap project. PLA2G2C NA12892,NA19238,NA19239 esv26523 1 20497229 20497789 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11635 S 451 0 1 PLA2G2C NA18858 esv166419 1 20498680 20500590 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162834,esv163195,esv161778 M 185 0 4 Samples from several populations that are part of the HapMap project. PLA2G2C NA11995,NA18505 esv26309 1 20499004 20500798 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10552 S 451 0 1 PLA2G2C NA18505 esv39715 1 20528287 20529446 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121797 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12892 esv1000843 1 20541629 20545456 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565754 S 3 0 1 "" HuRef esv42759 1 20581377 20581864 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123282 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv1550e59 1 20581394 20581988 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv162972,esv162729 M 185 0 9 "" NA11920,NA12750,NA18522,NA18542,NA18547,NA18555,NA19102 esv163164 1 20581541 20581891 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv526370,essv496414,essv513090 M 185 0 3 Samples from several populations that are part of the HapMap project. "" NA18542,NA18547,NA18555 nsv818100 1 20601012 20604959 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417739 S 112 0 1 "" NA19003 esv24128 1 20614631 20616067 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16821 S 451 1 0 "" NA11993 esv41711 1 20634267 20634545 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112587 S 6 0 1 Samples from several populations that are part of the HapMap project. VWA5B1 NA12878 esv40855 1 20649218 20649543 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112701 S 6 0 1 Samples from several populations that are part of the HapMap project. VWA5B1 NA12878 nsv5631 1 20664832 20707626 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3933,nssv5386 M 9 2 0 LOC339505,VWA5B1 NA12878,NA19129 esv160081 1 20668989 20671538 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492437,essv484595,essv476247,essv465037,essv480071,essv461642,essv459427,essv471515 M 185 0 8 Samples from several populations that are part of the HapMap project. VWA5B1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv159608 1 20669564 20670963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv486285,essv483473,essv429177,essv437204,essv464044,essv450261,essv448092,essv439079,essv483847,essv453048,essv463153,essv457244,essv440233,essv456129,essv466050,essv434483,essv431725,essv432595,essv454521,essv485128,essv436197,essv462679,essv470362,essv489658,essv477012,essv433339,essv457695,essv490778,essv446916,essv443798,essv466628,essv443158,essv444581,essv482049,essv456740,essv472921,essv480807,essv460812,essv442034,essv468600,essv479246,essv478742,essv487225,essv494006,essv493041,essv434235,essv474155,essv451142,essv438485,essv447547,essv436680,essv469467,essv454209,essv441530,essv478010,essv477422,essv471927,essv467230,essv448966,essv492510,essv431118,essv488834,essv474932,essv494805 M 185 0 64 Samples from several populations that are part of the HapMap project. VWA5B1 NA06994,NA11881,NA11993,NA11995,NA12004,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv160876 1 20691889 20694738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv485588,essv458987,essv479595,essv464823,essv461848,essv475908,essv491332,essv471357 M 185 0 8 Samples from several populations that are part of the HapMap project. LOC339505 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37043 1 20707664 20710363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115399 S 6 0 1 Samples from several populations that are part of the HapMap project. LOC339505 NA19240 esv2513498 1 20708577 20709500 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5214092 S 1 1 0 LOC339505 NA18507 esv162636 1 20744661 20744932 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528517,essv521916 M 185 0 2 Samples from several populations that are part of the HapMap project. LOC339505 NA06986,NA11919 esv163453 1 20764680 20765023 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv522035,essv537672 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA06986,NA11831 dgv7376e59 1 20779164 20782863 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37569,esv37617,esv35343 M 6 0 3 "" NA19238,NA19239,NA19240 esv159851 1 20787964 20792263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv447446,essv494947,essv460221,essv490172,essv441005,essv439117,essv461378,essv447169,essv463077,essv437539,essv482553,essv486685,essv453652 M 185 0 13 Samples from several populations that are part of the HapMap project. "" NA11830,NA11831,NA12813,NA12828,NA18522,NA18542,NA18953,NA18967,NA18975,NA19172,NA19207,NA19209,NA19240 esv2560487 1 20789862 20790311 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5314979 S 1 1 0 "" NA18507 nsv512724 1 20789982 20790088 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625349 S 1 1 0 "" 1 nsv821943 1 20806011 20818647 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426380 S 31 1 0 CAMK2N1 AK6 esv42557 1 20806378 20806949 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112008 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160520 1 20809964 20814263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv488763,essv453695,essv485545,essv453915,essv482447,essv483434,essv463453,essv486562,essv469943,essv435238,essv482790,essv445318,essv469719,essv486844,essv429448,essv467812,essv449194,essv451192,essv443719,essv446227,essv441043,essv465579,essv470511,essv488463,essv487744,essv447736,essv441293,essv430054,essv454987,essv472640,essv445890,essv448416,essv440139,essv433597,essv491551,essv452776,essv435579,essv486143,essv432717,essv444234,essv457898,essv429784,essv489670,essv459681,essv494986,essv467319,essv442787,essv460179,essv478805,essv462575,essv481727,essv452414,essv481507,essv455348,essv456894,essv469185,essv440608,essv429907,essv461334,essv440856,essv450355,essv455414,essv483984,essv473678,essv444723,essv453589,essv482342,essv490680,essv433559,essv466739,essv438961,essv488253,essv466986,essv460940,essv451342,essv447974,essv479695,essv460001,essv491187,essv451787,essv468206,essv434339,essv459517,essv464965,essv463540,essv473095,essv445995,essv487960,essv446878,essv487630,essv474486,essv489289,essv493643,essv475850,essv457213,essv449508,essv468102,essv483035,essv490945,essv433909,essv493497,essv432151,essv430500,essv430826,essv447105,essv477022,essv451672,essv448944,essv486031,essv468442,essv437936,essv431913,essv437446,essv438590,essv466042,essv480934,essv450600,essv478228,essv438073,essv434930,essv439624,essv453195,essv445741,essv473502,essv436866,essv444496,essv452206,essv494417 M 185 0 128 Samples from several populations that are part of the HapMap project. CAMK2N1 NA06986,NA06994,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11832,NA11894,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12045,NA12144,NA12155,NA12156,NA12249,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12813,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18507,NA18508,NA18510,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18608,NA18609,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18912,NA18916,NA18940,NA18949,NA18952,NA18953,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18975,NA18980,NA18981,NA19093,NA19098,NA19099,NA19102,NA19114,NA19119,NA19129,NA19131,NA19137,NA19138,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19209,NA19225,NA19238,NA19239,NA19240,NA19257 esv162694 1 20820084 20820473 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528443,essv522115 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA06986,NA11919 esv166279 1 20864002 20864715 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162023 S 185 0 18 Samples from several populations that are part of the HapMap project. "" NA06994,NA07051,NA07346,NA10847,NA10851,NA11931,NA12003,NA12043,NA12154,NA12287,NA12489,NA12776,NA18550,NA18570,NA18577,NA18605,NA18960,NA18974 esv159877 1 20877864 20882363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv452162,essv449386,essv494935,essv432488,essv436622,essv441002,essv459704,essv455494,essv438045,essv431554,essv454293,essv493246,essv467764,essv492742,essv446414,essv466815,essv488095,essv482633,essv477238,essv447197,essv446168,essv454474,essv430309,essv451284,essv468740,essv451568,essv494094,essv453769,essv489925,essv470497,essv452497,essv486986,essv443314,essv444512,essv450565,essv489354,essv437917,essv473143,essv483878,essv461979,essv429842,essv460010,essv441388,essv435195,essv460986,essv467122,essv468353,essv447945,essv480208,essv456677,essv464892,essv439134,essv475235,essv444730,essv459665,essv481354,essv455336,essv491017,essv469380,essv488334,essv478351,essv453102,essv431175,essv482702,essv439711,essv474387,essv442094,essv483001,essv481656,essv472386,essv469736,essv437639,essv430158,essv452721,essv451813,essv455048,essv463517,essv474223 M 185 0 78 Samples from several populations that are part of the HapMap project. FAM43B NA06986,NA06994,NA07051,NA07346,NA07347,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA11994,NA12003,NA12044,NA12045,NA12154,NA12155,NA12249,NA12414,NA12716,NA12717,NA12751,NA12763,NA12776,NA12813,NA12878,NA18489,NA18498,NA18499,NA18504,NA18510,NA18519,NA18520,NA18522,NA18526,NA18532,NA18558,NA18562,NA18564,NA18579,NA18592,NA18605,NA18853,NA18856,NA18871,NA18912,NA18940,NA18945,NA18949,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18967,NA18968,NA18971,NA18974,NA18975,NA18976,NA19005,NA19093,NA19098,NA19102,NA19114,NA19119,NA19137,NA19138,NA19159,NA19160,NA19171,NA19172,NA19200,NA19201,NA19204,NA19207,NA19239 esv36833 1 20878164 20881913 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114011 S 6 0 1 Samples from several populations that are part of the HapMap project. FAM43B NA12878 esv160120 1 20879189 20881738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475351,essv480557,essv461529,essv458640,essv471392,essv485095,essv491333,essv465111 M 185 0 8 Samples from several populations that are part of the HapMap project. FAM43B NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv460729 1 20893965 20918912 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537251 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDA HGDP00552 esv38944 1 20913523 20913744 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121804 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv7377e59 1 20913589 20913665 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv42874,esv43690 M 6 0 8 "" NA12878,NA12891,NA12892 esv166188 1 20913606 20913663 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164939 S 185 0 39 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11894,NA11920,NA11993,NA11995,NA12003,NA12144,NA12156,NA12749,NA12761,NA12878,NA12891,NA18489,NA18499,NA18511,NA18523,NA18526,NA18545,NA18555,NA18558,NA18562,NA18563,NA18571,NA18592,NA18603,NA18608,NA18861,NA18871,NA18942,NA18945,NA18949,NA18956,NA18965,NA18973,NA19093,NA19114,NA19129,NA19147 esv2750602 1 20914292 20915117 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95034 S 51 0 1 "" 22231 nsv528156 1 20915701 20934796 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704704 S 2026 0 1 CDA esv998962 1 20925389 20931167 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565384 S 3 0 1 CDA HuRef esv37054 1 20931264 20933713 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114901 S 6 0 1 Samples from several populations that are part of the HapMap project. CDA NA12878 nsv511682 1 20931626 20932807 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626320 S 1 0 1 CDA 1 esv165669 1 20932029 20932703 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162099,esv162735,esv163965 M 185 0 59 Samples from several populations that are part of the HapMap project. CDA NA06986,NA10851,NA11829,NA11894,NA11931,NA11994,NA11995,NA12003,NA12004,NA12043,NA12045,NA12144,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12717,NA12750,NA12751,NA12761,NA12763,NA12813,NA12828,NA12878,NA12892,NA18486,NA18502,NA18504,NA18508,NA18517,NA18520,NA18523,NA18561,NA18571,NA18576,NA18603,NA18638,NA18907,NA18949,NA18959,NA18960,NA18961,NA18973,NA18974,NA18975,NA18976,NA18981,NA19108,NA19116,NA19129,NA19138,NA19152,NA19160,NA19201,NA19210 esv24339 1 20932517 20933644 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19697 S 451 0 1 CDA NA18517 esv166216 1 20932687 20933893 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162638 S 185 0 11 Samples from several populations that are part of the HapMap project. CDA NA11920,NA12043,NA12044,NA12776,NA18570,NA18605,NA18858,NA18945,NA19108,NA19238,NA19239 nsv834369 1 20936263 21106330 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443885,nssv1443896 M 95 0 2 CDA,DDOST,HP1BP3,KIF17,PINK1,SH2D5 esv165066 1 20944704 20944770 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv428749,essv428929,essv428776,essv428605 M 185 0 4 Samples from several populations that are part of the HapMap project. CDA NA11881,NA12287,NA12814,NA12815 esv270154 1 20944715 20945069 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516723,essv2516305,essv2515659,essv2518495,essv2518821,essv2516990 M 157 6 0 Samples from several populations that are part of the HapMap project. CDA NA11881,NA11931,NA12045,NA12287,NA12814,NA12815 esv39617 1 20949750 20951378 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122996 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv2633764 1 20949897 20950285 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5230908 S 1 1 0 "" NA18507 esv2499678 1 20951823 20953416 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5192304 S 1 0 1 "" NA18507 esv3920 1 20952262 20952778 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26361 S 1 0 1 Single Asian sample YH "" YH dgv7378e59 1 20952363 20952761 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv38133,esv39908,esv43355 M 6 0 6 "" NA19238,NA19239,NA19240 dgv1551e59 1 20952411 20952726 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv163143,esv166276 M 185 0 57 "" NA06986,NA07037,NA07051,NA10851,NA11994,NA12045,NA12154,NA12750,NA12751,NA12763,NA12776,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18508,NA18510,NA18519,NA18522,NA18537,NA18545,NA18550,NA18552,NA18555,NA18558,NA18572,NA18573,NA18577,NA18593,NA18853,NA18870,NA18871,NA18912,NA18940,NA18948,NA18961,NA18964,NA19093,NA19099,NA19102,NA19108,NA19129,NA19138,NA19190,NA19257 esv1075995 1 20952488 20952668 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629701 S 2 0 1 "" HuRef esv159926 1 20957964 20962363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv446154,essv440843,essv492879,essv460271,essv468501,essv436352,essv433627,essv446276,essv495162,essv435117,essv438407,essv452193,essv467948,essv482564,essv454023,essv477352,essv463997,essv431584,essv463447,essv479662,essv452579,essv488310,essv438185,essv430391,essv430160,essv470414,essv481248,essv490906,essv441095,essv430659,essv468394,essv455573,essv461024,essv489982,essv459549,essv481514,essv456537,essv466816,essv447984,essv450401,essv461398,essv429966,essv451975,essv449298,essv467061,essv452574,essv465220,essv473309,essv483778,essv441287,essv469708,essv470619,essv439681,essv437432,essv445487,essv482872,essv472438,essv431109,essv455042,essv493119,essv465542,essv491613,essv432273,essv451639,essv473839,essv474341,essv483348,essv454511,essv452824,essv445896,essv487929,essv489131,essv491086,essv451383,essv455350,essv439485 M 185 0 76 Samples from several populations that are part of the HapMap project. PINK1 NA06994,NA07051,NA07346,NA07347,NA10847,NA11830,NA11831,NA11832,NA11919,NA11920,NA11931,NA11992,NA11994,NA12003,NA12045,NA12154,NA12155,NA12249,NA12414,NA12716,NA12750,NA12763,NA12813,NA12828,NA12892,NA18489,NA18498,NA18499,NA18501,NA18504,NA18508,NA18510,NA18519,NA18520,NA18522,NA18523,NA18532,NA18537,NA18562,NA18564,NA18576,NA18605,NA18638,NA18853,NA18856,NA18870,NA18909,NA18912,NA18940,NA18951,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18967,NA18968,NA18971,NA18972,NA18974,NA18976,NA19102,NA19119,NA19129,NA19137,NA19153,NA19159,NA19160,NA19171,NA19172,NA19200,NA19201,NA19204,NA19239,NA19240 esv161679 1 20959189 20961738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475666,essv458294,essv479511,essv464533,essv461124,essv484688,essv470944,essv492053 M 185 0 8 Samples from several populations that are part of the HapMap project. PINK1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv41699 1 20985291 20985700 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112845 S 6 0 1 Samples from several populations that are part of the HapMap project. DDOST NA12878 nsv522796 1 20994952 21002726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698440 S 2026 0 1 KIF17 nsv520013 1 21011182 21054726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697177 S 2026 0 1 KIF17,SH2D5 esv160112 1 21037889 21040738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461460,essv492623,essv479765,essv464792,essv458663,essv471490,essv485918,essv475587 M 185 0 8 Samples from several populations that are part of the HapMap project. KIF17 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36020 1 21038214 21040513 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114218 S 6 0 1 Samples from several populations that are part of the HapMap project. KIF17 NA12878 esv160711 1 21038714 21040263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492084,essv468485,essv483543,essv487131,essv456583,essv488548,essv447743,essv486816,essv494214,essv494866,essv474004,essv432009,essv493175,essv448920,essv431168,essv476858,essv436437,essv432613,essv478254,essv469316,essv484334,essv457842,essv443480,essv466243,essv434646,essv439339,essv446531,essv484200,essv490399,essv481999,essv478128,essv444097,essv463209,essv471972,essv462429,essv474856,essv433926,essv456062,essv457249,essv454898,essv450096,essv489749,essv460497,essv441588,essv448110,essv467346,essv429272,essv453054,essv442268,essv478844,essv440165,essv454259,essv436223,essv481048,essv463818,essv495712,essv451137,essv444790,essv433289,essv438504,essv472533,essv436987,essv465625,essv470088 M 185 0 64 Samples from several populations that are part of the HapMap project. KIF17 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18975,NA18976,NA18980,NA18981,NA19005 dgv1552e59 1 21042989 21045938 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv160529,esv160574 M 185 0 16 KIF17 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv164875 1 21076801 21076864 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv547234,essv550422,essv547926 M 185 0 3 Samples from several populations that are part of the HapMap project. HP1BP3 NA12717,NA18608,NA19172 nsv5742 1 21084887 21120011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3942 S 9 1 0 HP1BP3 NA12878 esv165552 1 21142034 21143050 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163902 S 185 0 167 Samples from several populations that are part of the HapMap project. EIF4G3 NA06986,NA06994,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12813,NA12828,NA12878,NA12891,NA12892,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005,NA19093,NA19098,NA19099,NA19102,NA19108,NA19114,NA19116,NA19119,NA19129,NA19131,NA19137,NA19138,NA19144,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19209,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv1356855 1 21142549 21142991 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611504 S 2 0 1 EIF4G3 HuRef esv41611 1 21148779 21149001 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111966 S 6 0 1 Samples from several populations that are part of the HapMap project. EIF4G3 NA12878 esv159896 1 21378789 21381338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv462211,essv480277,essv464923,essv485100,essv458545,essv470728,essv476039,essv492422 M 185 0 8 Samples from several populations that are part of the HapMap project. EIF4G3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv834380 1 21399270 21574441 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443907 S 95 1 0 ECE1,EIF4G3 esv163019 1 21420151 21421055 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv508928,essv533276,essv532798,essv518725,essv507633,essv510681,essv539083,essv512090,essv531054 M 185 0 9 Samples from several populations that are part of the HapMap project. EIF4G3 NA10851,NA12005,NA12045,NA12249,NA18576,NA18861,NA18948,NA18956,NA19129 nsv160811 1 21428069 21431373 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179389 M 24 EIF4G3 esv1007787 1 21484792 21486447 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565532 S 3 1 0 EIF4G3 HuRef esv159748 1 21501789 21504338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492103,essv470784,essv459361,essv485537,essv464401,essv480503,essv461971,essv475936 M 185 0 8 Samples from several populations that are part of the HapMap project. EIF4G3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35486 1 21501864 21504063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113782,essv115965 M 6 0 2 Samples from several populations that are part of the HapMap project. EIF4G3 NA12891,NA19239 esv37122 1 21505439 21507863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116353,essv114102,essv113413 M 6 0 3 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19239 esv159839 1 21505914 21507213 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv432179,essv469293,essv437007,essv487474,essv493920,essv449015,essv436563,essv478561,essv474083,essv483118,essv474601,essv462822,essv455699,essv457041,essv448123,essv451065,essv435724,essv433166,essv457664,essv434202,essv447632,essv444048,essv444955,essv477712,essv490247,essv439447,essv484450,essv446688,essv466709,essv483740,essv443510,essv434373,essv495372,essv456761,essv481955,essv492555,essv478824,essv442362,essv429392,essv462950,essv489822,essv488580,essv470384,essv441775,essv468869,essv438318,essv439729,essv450168,essv472521,essv493157,essv494881,essv463710,essv452803,essv431272,essv465848,essv467374,essv481120,essv472300,essv477451,essv460368,essv454878,essv477058,essv486483,essv431676,essv453983 M 185 0 65 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv42153 1 21506214 21506607 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110565 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv1000397 1 21521167 21539904 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565165 S 3 0 0 "" HuRef esv39425 1 21533072 21535086 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121557 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12892 esv1387368 1 21537097 21537519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804670 S 2 0 1 "" HuRef esv1006358 1 21573816 21586344 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564803 S 3 0 1 ECE1 HuRef esv2109865 1 21627318 21627736 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765838 S 1 0 1 ECE1 NA18507 nsv515620 1 21657162 21657239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664134,nssv656270 M 2026 0 2 ECE1 esv159711 1 21658814 21659863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv480720,essv465870,essv486900,essv441843,essv437281,essv451127,essv430885,essv474579,essv460725,essv477222,essv436761,essv454343,essv462336,essv483191,essv448749,essv488902,essv470452,essv486771,essv443845,essv439043,essv482252,essv434718,essv457869,essv483963,essv495289,essv444717,essv477595,essv443143,essv490374,essv454932,essv492714,essv447457,essv432006,essv494556,essv457369,essv434010,essv472827,essv438585,essv436106,essv453327,essv467308,essv433169,essv432168,essv493572,essv429573,essv442462,essv448125,essv479236,essv474285,essv455884,essv478508,essv489421,essv456607,essv468608,essv494002,essv476900,essv449880,essv440249,essv472081,essv469551,essv485643,essv464113,essv446437 M 185 0 63 Samples from several populations that are part of the HapMap project. ECE1 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv23912 1 21658828 21659448 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14361 S 451 0 1 ECE1 NA19225 esv164951 1 21672645 21672940 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv546477,essv547988,essv545772 M 185 0 3 Samples from several populations that are part of the HapMap project. "" NA18523,NA19108,NA19240 esv34155 1 21693577 22166616 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ALPL,HSPG2,LDLRAD2,NBPF3,RAP1GAP,USP48 esv26055 1 21697490 21815162 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11019,esv14172,esv14152 M 451 8 0 NBPF3 NA15510,NA18502,NA18511,NA18523,NA18907,NA18909,NA18916,NA19225 nsv820559 1 21735472 21815162 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420269 S 1 1 0 NBPF3 NA10851 dgv42e1 1 21736184 21942414 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11511,essv11654,esv191 M 271 0 0 ALPL,NBPF3,RAP1GAP NA19154,NA19173 nsv428432 1 21736184 21942414 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454609,nssv454598,nssv454565,nssv454554,nssv454587,nssv454620,nssv454576 M 62 7 0 ALPL,NBPF3,RAP1GAP HGDP00460,HGDP00463,HGDP00472,HGDP01093,HGDP01094,NA18916,NA19096 dgv143e188 1 21737719 21754287 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1829814,esv1833394 M 6 2 0 "" NA15510 esv1831932 1 21737719 21809583 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4377087 S 6 1 0 NBPF3 NA15510 nsv9435 1 21737743 21800195 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14412,nssv16109,nssv15120 M 31 2 1 Samples from several populations that are part of the HapMap project. NBPF3 NA18502,NA19173,NA19221 esv35524 1 21748164 21754863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113235 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 esv1807657 1 21750808 21753611 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4370479 S 6 0 1 "" NA18517 esv161494 1 21753389 21756238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471751,essv459311,essv461098,essv465226,essv485139,essv475833,essv492665,essv480220 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35558 1 21753864 21755913 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114613 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv7069 1 21754443 21806350 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29510 S 1 0 0 NBPF3 SJK esv159805 1 21778964 21783463 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv442750,essv489713,essv469208,essv430270,essv495041,essv457206,essv431252,essv453938,essv433381 M 185 0 9 Samples from several populations that are part of the HapMap project. NBPF3 NA18522,NA18562,NA18571,NA18592,NA18603,NA18856,NA18949,NA18959,NA18973 esv160453 1 21785389 21787938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475864,essv484691,essv462275,essv479637,essv458724,essv471558,essv465099,essv492727 M 185 0 8 Samples from several populations that are part of the HapMap project. NBPF3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37602 1 21785714 21787713 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115009,essv114715 M 6 0 2 Samples from several populations that are part of the HapMap project. NBPF3 NA12878,NA12892 esv39327 1 21786321 21786789 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122322,essv121854 M 6 0 2 Samples from several populations that are part of the HapMap project. NBPF3 NA12878,NA19239 esv989724 1 21786418 21786689 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3569889 S 3 0 1 NBPF3 HuRef esv165911 1 21786419 21786690 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162651,esv162680,esv164275 M 185 0 180 Samples from several populations that are part of the HapMap project. NBPF3 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11829,NA11830,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12763,NA12776,NA12813,NA12878,NA12891,NA12892,NA18489,NA18501,NA18505,NA18516,NA18519,NA18520,NA18522,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18870,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18972,NA18973,NA18974,NA18975,NA18980,NA18981,NA19005,NA19093,NA19114,NA19116,NA19119,NA19129,NA19131,NA19138,NA19147,NA19172,NA19190,NA19200,NA19204,NA19209,NA19210,NA19239 esv43214 1 21786419 21786690 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv38741,esv42729,esv40806 M 6 0 7 Samples from several populations that are part of the HapMap project. NBPF3 NA12878,NA12891,NA12892 esv2456631 1 21786420 21786691 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5375893 S 1 0 1 NBPF3 NA18507 esv1311289 1 21786420 21786692 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347116 S 2 0 1 NBPF3 HuRef esv165243 1 21787047 21787815 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv541952,essv548116 M 185 0 2 Samples from several populations that are part of the HapMap project. NBPF3 NA12004,NA18507 esv37391 1 21787064 21795663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116218 S 6 0 1 Samples from several populations that are part of the HapMap project. NBPF3 NA19239 esv2195718 1 21787551 21787999 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650166 S 1 0 1 NBPF3 NA18507 esv38699 1 21787635 21787887 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121858 S 6 0 1 Samples from several populations that are part of the HapMap project. NBPF3 NA12878 esv166379 1 21787731 21787809 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164830 S 185 0 15 Samples from several populations that are part of the HapMap project. NBPF3 NA06986,NA11894,NA12156,NA12414,NA12776,NA12891,NA18510,NA18564,NA18566,NA18577,NA18858,NA18916,NA18945,NA18952,NA19129 esv1213372 1 21787745 21787809 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769496 S 2 0 1 NBPF3 HuRef esv43497 1 21787746 21787809 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv40665 S 6 0 3 Samples from several populations that are part of the HapMap project. NBPF3 NA12878,NA12891,NA12892 nsv160214 1 21787746 21787809 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178792 M 24 NBPF3 esv1808757 1 21805992 21811493 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Agilent 2 x 244K Human Genome CGH Microarray essv4370648 S 6 0 1 NBPF3 NA18517 nsv527108 1 21823292 21826566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703488 S 2026 0 1 "" nsv834391 1 21849933 22050482 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443951,nssv1443940,nssv1443929,nssv1443963,nssv1443918 M 95 0 5 ALPL,RAP1GAP,USP48 esv1457635 1 21853539 21853539 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639911 S 2 1 0 ALPL HuRef esv42831 1 21858008 21861019 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123242 S 6 0 1 Samples from several populations that are part of the HapMap project. ALPL NA12878 nsv517096 1 21863691 21996848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678892,nssv676837,nssv652854,nssv682220,nssv679211,nssv678465,nssv705217,nssv667702,nssv683155,nssv674071,nssv651804,nssv682311,nssv674624,nssv657650,nssv667278,nssv661510,nssv699191,nssv653597,nssv695226,nssv671036,nssv658962 M 2026 0 21 ALPL,RAP1GAP esv36301 1 21877539 21879713 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113781,essv114446 M 6 0 2 Samples from several populations that are part of the HapMap project. ALPL NA12878,NA12891 nsv460740 1 21889506 21899491 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537258 S 1557 0 1 ALPL NINDS_181 esv160789 1 21902814 21905513 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv484603,essv492277,essv475898,essv462025,essv480281,essv459321,essv470870,essv464878 M 185 0 8 Samples from several populations that are part of the HapMap project. ALPL NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv42342 1 21904146 21904471 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111071 S 6 0 1 Samples from several populations that are part of the HapMap project. ALPL NA12878 nsv508359 1 21904874 21980691 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622758 S 4 0 1 ALPL,RAP1GAP NA18994 nsv509002 1 21904874 21980691 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619779 S 4 1 0 ALPL,RAP1GAP NA10860 esv40368 1 21913954 21914349 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110510 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv470704 1 21917234 21938374 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547717 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RAP1GAP HGDP00599 esv1002267 1 21935315 21944866 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564498 S 3 0 1 RAP1GAP HuRef esv161669 1 21947789 21950338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475763,essv459133,essv491943,essv485810,essv479331,essv461318,essv464440,essv470880 M 185 0 8 Samples from several populations that are part of the HapMap project. RAP1GAP NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv460751 1 21958536 21988622 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537263 S 1557 0 1 RAP1GAP 1780854065_A esv160366 1 21977389 21979938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458733,essv480320,essv471120,essv465225,essv485329,essv461597,essv492015,essv475706 M 185 0 8 Samples from several populations that are part of the HapMap project. RAP1GAP NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv35339 1 21977539 21979638 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114254,essv115238 M 6 0 2 Samples from several populations that are part of the HapMap project. RAP1GAP NA12878,NA12892 esv161097 1 21978064 21979363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv468896,essv438279,essv492517,essv440201,essv488669,essv494727,essv472352,essv453114,essv463474,essv478736,essv436972,essv480675,essv432040,essv443089,essv474811,essv454420,essv438918,essv493053,essv450942,essv449781,essv429296,essv478911,essv434720,essv478110,essv482384,essv466417,essv445083,essv446674,essv457900,essv484000,essv456743,essv495408,essv490278,essv444188,essv470261,essv433787,essv441581,essv494185,essv449127,essv489667,essv486766,essv476668,essv457476,essv467543,essv464203,essv462828,essv454406,essv442316,essv447283,essv431362,essv436104,essv431997,essv474201,essv483182,essv456172,essv487030,essv472525,essv469070,essv436601,essv448204,essv465954,essv477284 M 185 0 62 Samples from several populations that are part of the HapMap project. RAP1GAP NA06994,NA11881,NA11993,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 nsv5854 1 22003149 22038109 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3954 S 9 1 0 USP48 NA12878 esv165610 1 22012327 22012412 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164682 S 185 0 5 Samples from several populations that are part of the HapMap project. USP48 NA18504,NA18520,NA18853,NA18871,NA19257 nsv5965 1 22040958 22071482 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6413 S 9 1 0 USP48 NA12156 nsv508470 1 22042665 22131109 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622759 S 4 0 1 USP48 NA18994 esv40319 1 22056008 22056546 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111954 S 6 0 1 Samples from several populations that are part of the HapMap project. USP48 NA12878 esv161200 1 22120764 22125063 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv481590,essv454870,essv433712,essv448490,essv460893,essv449444,essv456188,essv440441,essv465518,essv452752,essv429653,essv462957,essv479297,essv446219,essv462805,essv473714,essv472291,essv490864,essv453779,essv466851,essv495213,essv467507,essv478203,essv474319,essv444411,essv440597,essv437869,essv442676,essv432737,essv492955,essv490454,essv450450,essv449260,essv445638,essv446712,essv473223,essv430015,essv478056,essv459476,essv491038,essv435114,essv451443,essv463595,essv441200,essv475229,essv459918,essv435060,essv475043,essv470624,essv468041,essv435953,essv433974,essv445250,essv475906,essv455257,essv457301,essv467855,essv493502,essv445459,essv431286,essv438243,essv448800,essv480880,essv450612,essv472821,essv477332,essv491811,essv495074,essv430641,essv483356,essv489378,essv438164 M 185 0 72 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA10847,NA11831,NA11881,NA11894,NA11920,NA11931,NA11992,NA12003,NA12006,NA12156,NA12249,NA12717,NA12750,NA12776,NA12878,NA12892,NA18489,NA18501,NA18502,NA18504,NA18505,NA18510,NA18519,NA18522,NA18523,NA18545,NA18547,NA18555,NA18558,NA18561,NA18562,NA18570,NA18573,NA18576,NA18582,NA18609,NA18638,NA18853,NA18861,NA18871,NA18907,NA18912,NA18943,NA18947,NA18949,NA18952,NA18956,NA18961,NA18965,NA18967,NA18968,NA18972,NA18973,NA18974,NA18976,NA18980,NA19098,NA19102,NA19119,NA19129,NA19137,NA19138,NA19147,NA19153,NA19159,NA19190,NA19207,NA19225,NA19238,NA19257 nsv515659 1 22126329 22265293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705759,nssv664272,nssv669785,nssv704109,nssv663807,nssv669540,nssv687314,nssv695098,nssv705427 M 2026 0 9 HSPG2,LDLRAD2 nsv9546 1 22128578 22137971 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17753 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv509013 1 22131109 22301601 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621086 S 4 1 0 HSPG2,LDLRAD2 NA15510 esv33753 1 22131944 22137344 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93649 S 51 0 1 "" 21972 nsv834402 1 22135232 22323122 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443985,nssv1443974,nssv1443996 M 95 0 3 CELA3B,HSPG2,LDLRAD2 esv40484 1 22138407 22138728 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111628 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv33407 1 22139098 22139218 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95073,essv94051,essv94306,essv97064,essv97380,essv95849,essv97131,essv99600,essv94942,essv99343,essv100572 M 51 11 0 LDLRAD2 21721,21802,21808,21817,21879,21911,22075,22217,22231,22275,22298 esv159797 1 22139564 22143863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv430351,essv489201,essv440242,essv446167,essv483053,essv482609,essv456744,essv445180,essv469529,essv440535,essv482766,essv437805 M 185 0 12 Samples from several populations that are part of the HapMap project. LDLRAD2 NA11994,NA12414,NA12751,NA12763,NA18520,NA18579,NA18582,NA18592,NA18871,NA18981,NA19172,NA19200 nsv460762 1 22141983 22184552 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537273 S 1557 0 1 HSPG2,LDLRAD2 NINDS_70 nsv469549 1 22142065 22346503 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649660 M 265 0 Samples from several populations that are part of the HapMap project. CELA3A,CELA3B,HSPG2,LDLRAD2 esv164005 1 22144274 22144857 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv527918,essv533216,essv532520 M 185 0 3 Samples from several populations that are part of the HapMap project. LDLRAD2 NA18576,NA18592,NA18638 esv38985 1 22144320 22144915 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv117009,essv116866 M 6 0 2 Samples from several populations that are part of the HapMap project. LDLRAD2 NA19238,NA19239 esv40358 1 22144453 22144697 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110748 S 6 0 1 Samples from several populations that are part of the HapMap project. LDLRAD2 NA19240 esv1196174 1 22144648 22144783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606269 S 2 0 1 LDLRAD2 HuRef nsv470706 1 22147077 22328278 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547718,nssv547719 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CELA3A,CELA3B,HSPG2,LDLRAD2 HGDP00546,HGDP00550 esv1798773 1 22147764 22206942 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human1Mv1 DNA Analysis BeadChip essv4380515 S 6 1 0 HSPG2,LDLRAD2 NA12239 esv42111 1 22181875 22182248 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111813 S 6 0 1 Samples from several populations that are part of the HapMap project. HSPG2 NA12878 nsv460784 1 22184552 22216279 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537294 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSPG2 HGDP00857 esv1003020 1 22190533 22212334 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564134 S 3 0 1 HSPG2 HuRef esv41465 1 22196381 22196584 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112697 S 6 0 1 Samples from several populations that are part of the HapMap project. HSPG2 NA12878 esv165678 1 22216022 22216245 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv165411,esv162833 M 185 0 8 Samples from several populations that are part of the HapMap project. HSPG2 NA18517,NA18907,NA18912,NA19099 esv40660 1 22216572 22216751 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111680 S 6 0 1 Samples from several populations that are part of the HapMap project. HSPG2 NA12878 dgv43e1 1 22222521 22412857 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv180,essv18229 M 271 0 0 CDC42,CELA3A,CELA3B,HSPG2,LINC00339 NA12057 nsv834413 1 22235213 22420174 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444018,nssv1444007,nssv1444040,nssv1444029 M 95 0 4 CDC42,CELA3A,CELA3B,HSPG2,LINC00339 nsv460795 1 22249589 22284495 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537305 S 1557 0 1 HSPG2 NINDS_74 esv161122 1 22262389 22265238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458813,essv484445,essv492692,essv479405,essv471230,essv462154,essv464957,essv476142 M 185 0 8 Samples from several populations that are part of the HapMap project. HSPG2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36863 1 22262814 22265113 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115801,essv113681,essv115010,essv114939 M 6 0 4 Samples from several populations that are part of the HapMap project. HSPG2 NA12878,NA12891,NA12892,NA19239 esv159857 1 22263164 22264813 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv436565,essv488616,essv469395,essv470432,essv437334,essv430835,essv439098,essv438301,essv435923,essv472781,essv465610,essv446803,essv433035,essv448739,essv477281,essv493431,essv481004,essv432409,essv467635,essv494785,essv485793,essv478989,essv456454,essv444303,essv471983,essv482371,essv444764,essv483779,essv466477,essv457816,essv477668,essv490334,essv434860,essv443000,essv495491,essv441659,essv454078,essv476756,essv494271,essv449971,essv463116,essv489568,essv462512,essv448505,essv483619,essv491406,essv433830,essv429460,essv453283,essv439821,essv478272,essv455840,essv432010,essv450596,essv457392,essv460636,essv447688,essv474249,essv468883 M 185 0 59 Samples from several populations that are part of the HapMap project. HSPG2 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18952,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981 esv1468707 1 22286406 22286456 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697282 S 2 0 1 "" HuRef esv41086 1 22288429 22288849 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111361 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv162296 1 22293759 22319627 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528218,essv523273,essv535764,essv502175 M 185 0 4 Samples from several populations that are part of the HapMap project. CELA3B NA07347,NA11920,NA11992,NA12763 esv24116 1 22293885 22342339 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9848,esv12969 M 451 0 3 CELA3A,CELA3B NA18861,NA18907,NA19257 dgv7379e59 1 22294776 22322776 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39275,esv42967 M 6 0 2 CELA3B NA12878,NA12891 nsv436921 1 22300173 22317969 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465918 S 2 1 0 Samples from several populations that are part of the HapMap project. CELA3B NA18505 dgv7380e59 1 22303979 22332426 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39703,esv43485,esv40022,esv39933,esv39832,esv43257,esv43150 M 6 0 15 CELA3A,CELA3B NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv166579 1 22307578 22332404 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162111 S 185 0 30 Samples from several populations that are part of the HapMap project. CELA3A,CELA3B NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA10851,NA11830,NA11881,NA11894,NA11920,NA11992,NA12003,NA12144,NA12156,NA12249,NA12750,NA12761,NA12763,NA12776,NA18498,NA18499,NA18501,NA18504,NA18510,NA18856,NA18871,NA19093,NA19099,NA19190 esv7729 1 22307730 22332363 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30170 S 1 0 1 CELA3A,CELA3B SJK nsv9657 1 22309526 22343331 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18083,nssv12446 M 31 0 2 Samples from several populations that are part of the HapMap project. CELA3A,CELA3B NA18972,NA19007 dgv27n67 1 22316058 22344104 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821965,nsv821954 M 31 0 2 CELA3A NA18570,NA18972 nsv441686 1 22320511 22337243 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CELA3A esv2422105 1 22320515 22330539 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5086958,essv5021959,essv5090968,essv5039080,essv5109676,essv5025821,essv5079757,essv5060599,essv5122038,essv5082807,essv5031926,essv5160939,essv5136010,essv5099187,essv5007855,essv5114201,essv5112361,essv5087547,essv5079332,essv5014076,essv5069364,essv5010859,essv5130100,essv5068701,essv5051720,essv5106182,essv5062103,essv5052611,essv5082060,essv5013849,essv5092467,essv5092266,essv5009703,essv5092401,essv5144788,essv5013711,essv5057717,essv5052234,essv5008724,essv5150276,essv5101041,essv5049931,essv5099755,essv5135997,essv5127796,essv5160782,essv5073331,essv5047107,essv5012250,essv5122426,essv5094720,essv5026382,essv5066006,essv5098002,essv5153959,essv5057648,essv5013797,essv5089331,essv5072556,essv5087741,essv5151805,essv5067557,essv5122800,essv5048628,essv5051602,essv5030225,essv5089636,essv5060991,essv5047066,essv5152666,essv5160488,essv5079181,essv5126066,essv5004304,essv5118566,essv5004960,essv5048433,essv5155528,essv5039091,essv5010298,essv5048403,essv5093683,essv5040269,essv5140524,essv5116678,essv5120929,essv5098330,essv5117747,essv5048896,essv5012703,essv5139034,essv5029182,essv5131129,essv5069649,essv5156755,essv5005963,essv5137057,essv5040804,essv5097180,essv5139157,essv5127647,essv5027369,essv5035309,essv5107178 M 1184 0 104 CELA3A NA06986,NA10852,NA12057,NA17970,NA17976,NA17979,NA17998,NA18108,NA18109,NA18135,NA18146,NA18147,NA18161,NA18498,NA18529,NA18545,NA18570,NA18615,NA18616,NA18617,NA18628,NA18645,NA18647,NA18861,NA18863,NA18910,NA18911,NA18923,NA18925,NA18948,NA18949,NA18970,NA18972,NA18977,NA18979,NA18981,NA18991,NA18994,NA19005,NA19007,NA19070,NA19085,NA19086,NA19153,NA19154,NA19171,NA19184,NA19186,NA19248,NA19249,NA19257,NA19258,NA19313,NA19315,NA19317,NA19319,NA19334,NA19372,NA19396,NA19397,NA19440,NA19445,NA19446,NA19452,NA19457,NA19462,NA19467,NA19473,NA19750,NA19834,NA20126,NA20128,NA20282,NA20284,NA20333,NA20334,NA20335,NA20336,NA20540,NA20544,NA20774,NA20806,NA20818,NA20891,NA20900,NA20909,NA20910,NA21107,NA21295,NA21333,NA21378,NA21390,NA21424,NA21473,NA21520,NA21597,NA21599,NA21601,NA21613,NA21614,NA21717,NA21733,NA21739,NA21776 nsv528664 1 22328279 22389327 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705302 S 2026 1 0 CDC42,CELA3A,LINC00339 esv160416 1 22336564 22340863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv492694,essv472714,essv448689,essv465528,essv494256,essv454513,essv467844,essv437468,essv486711,essv495635,essv442797,essv473560,essv461016,essv430252,essv476750,essv454391,essv447878,essv436962,essv447480,essv438304,essv444516,essv449396,essv474404,essv488445,essv434978,essv450385,essv477313,essv439568,essv493105,essv460348,essv474857,essv431640,essv494940,essv435428,essv488979,essv440540,essv486003,essv453496,essv493745,essv442298,essv489348,essv451171,essv440719,essv437845,essv430711,essv481994,essv481550,essv487976,essv434508,essv477621,essv475271,essv488238,essv449136,essv483758,essv481396,essv446968,essv452452,essv442601,essv439233,essv457922,essv445682,essv443618,essv443284,essv479612,essv490150,essv464777,essv492988,essv490545,essv466974,essv463536,essv459982,essv435110,essv473724,essv459232,essv433534,essv486107,essv462593,essv448182,essv487530,essv463956,essv447057,essv450005,essv438140,essv482449,essv455163,essv468606,essv468099,essv452238,essv449681,essv430584,essv445858,essv450851,essv491006,essv487241,essv446308,essv487871,essv467574,essv433579,essv476433,essv455074,essv480668,essv465928,essv457251,essv435521,essv430394,essv470686,essv483268,essv453218,essv484433,essv431032,essv489468,essv440254 M 185 0 112 Samples from several populations that are part of the HapMap project. CELA3A NA06994,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11832,NA11881,NA11894,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12044,NA12144,NA12154,NA12156,NA12414,NA12716,NA12717,NA12749,NA12776,NA12813,NA12828,NA12878,NA12891,NA12892,NA18498,NA18502,NA18504,NA18505,NA18507,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18542,NA18555,NA18561,NA18562,NA18563,NA18566,NA18570,NA18572,NA18576,NA18577,NA18582,NA18593,NA18603,NA18608,NA18609,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18980,NA18981,NA19005,NA19093,NA19098,NA19099,NA19102,NA19129,NA19131,NA19137,NA19138,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19201,NA19204,NA19209,NA19225,NA19257 dgv7381e59 1 22336664 22340063 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43847,esv36998 M 6 0 2 CELA3A NA12878 esv161529 1 22378389 22381238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461168,essv458790,essv484519,essv471484,essv480445,essv465348,essv492180,essv475376 M 185 0 8 Samples from several populations that are part of the HapMap project. CDC42 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv161047 1 22379364 22383563 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv463889,essv487766,essv442271,essv492878,essv493965,essv481447,essv454839,essv443413,essv435411,essv449929,essv481680,essv433452,essv434694,essv490023,essv485016,essv475314,essv478055,essv458207,essv429750,essv432618,essv449568,essv457139,essv489793,essv474774,essv472596,essv488698,essv437497,essv431418,essv436015,essv460541,essv457597,essv449011,essv467993,essv476248 M 185 0 34 Samples from several populations that are part of the HapMap project. CDC42 NA11881,NA11931,NA11995,NA12004,NA12044,NA12144,NA12776,NA12828,NA12892,NA18507,NA18511,NA18517,NA18563,NA18564,NA18858,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18965,NA18973,NA19005,NA19108,NA19114,NA19190,NA19225,NA19257 nsv6076 1 22416299 22450404 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2871 S 9 1 0 CDC42,WNT4 NA18555 esv163171 1 22445333 22445911 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv531018,essv498726,essv505700,essv517629,essv541834,essv529872,essv506091,essv504693,essv529316,essv501331,essv521566,essv514501,essv526200,essv522405,essv525681,essv514961,essv518020 M 185 0 17 Samples from several populations that are part of the HapMap project. WNT4 NA18501,NA18511,NA18519,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA19093,NA19099,NA19108,NA19114,NA19138,NA19147,NA19210 esv38386 1 22445436 22445826 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv117893,essv118172,essv117478 M 6 0 3 Samples from several populations that are part of the HapMap project. WNT4 NA12878,NA12891,NA12892 esv162013 1 22445480 22445787 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv523864,essv541375,essv540046,essv497262,essv502663,essv537217,essv507321,essv530189,essv527305,essv523327,essv526599,essv507026,essv529620,essv511421,essv518655,essv537945,essv533748,essv533975,essv533069,essv499851 M 185 0 20 Samples from several populations that are part of the HapMap project. WNT4 NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11829,NA11881,NA11894,NA11920,NA11995,NA12003,NA12004,NA12144,NA12156,NA12249,NA12414,NA12716,NA12761,NA12776 nsv460806 1 22451845 22512847 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537310 S 1557 0 1 WNT4 1780862415_A esv161458 1 22467889 22470738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491273,essv464974,essv485722,essv462115,essv458307,essv480203,essv470942,essv476459 M 185 0 8 Samples from several populations that are part of the HapMap project. WNT4 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36289 1 22468614 22470888 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113129,essv114020,essv116196 M 6 0 3 Samples from several populations that are part of the HapMap project. WNT4 NA12878,NA19238,NA19239 esv160549 1 22468864 22470813 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv436230,essv438680,essv480683,essv485448,essv469385,essv463758,essv494067,essv441693,essv486423,essv468971,essv477438,essv483519,essv439467,essv493055,essv467370,essv465716,essv450676,essv431722,essv472746,essv454320,essv446792,essv481968,essv495622,essv490254,essv445111,essv443778,essv442930,essv483823,essv457655,essv456387,essv463374,essv488647,essv448126,essv434160,essv474244,essv452947,essv476589,essv450280,essv494743,essv472453,essv436795,essv491751,essv437050,essv430819,essv470370,essv439744,essv429395,essv489626,essv433375,essv447389,essv448651,essv432218,essv487066,essv434491,essv478622,essv460431,essv462722,essv455750,essv456926 M 185 0 59 Samples from several populations that are part of the HapMap project. WNT4 NA06994,NA11993,NA11995,NA12004,NA12006,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981 dgv7382e59 1 22489051 22489625 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv39253,esv43061 M 6 0 8 "" NA12878,NA12891,NA12892,NA19238,NA19240 esv166473 1 22489213 22489579 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162327 S 185 0 27 Samples from several populations that are part of the HapMap project. "" NA07000,NA11919,NA11931,NA11993,NA12043,NA12044,NA12155,NA12249,NA12776,NA12878,NA12891,NA12892,NA18498,NA18499,NA18502,NA18511,NA18523,NA18907,NA18948,NA18973,NA19093,NA19108,NA19114,NA19129,NA19138,NA19225,NA19240 nsv517086 1 22499530 22512847 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683851,nssv664021,nssv687280,nssv666144,nssv679575,nssv682668,nssv661058,nssv671692,nssv676101,nssv656347,nssv664643,nssv663458,nssv653181,nssv669739,nssv653762,nssv677352,nssv671842,nssv663876,nssv665257,nssv682790,nssv684635 M 2026 0 21 "" esv2421859 1 22500228 22509251 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5095704,essv5023611,essv5026109,essv5054217,essv5016642,essv5155133,essv5112577,essv5142667,essv5119150,essv5025384,essv5102934,essv5006220,essv5147501,essv5062450,essv5060034,essv5009562,essv5043047,essv5138053,essv5007542,essv5063248,essv5066431,essv5095750,essv5046500,essv5139059,essv5143680,essv5081713,essv5114057,essv5054726,essv5117300,essv5106782 M 1184 0 30 "" NA18497,NA18855,NA18857,NA18868,NA18869,NA18933,NA18935,NA19107,NA19109,NA19113,NA19122,NA19247,NA19249,NA19379,NA19438,NA19451,NA19466,NA19713,NA19983,NA20336,NA20337,NA20341,NA20342,NA20348,NA21360,NA21361,NA21400,NA21401,NA21587,NA21650 esv2585230 1 22525718 22527154 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5282711 S 1 0 1 "" NA18507 nsv522370 1 22555993 22591456 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695150 S 2026 0 1 "" esv41862 1 22564902 22565092 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112096 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv1850462 1 22587878 22612690 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4398431 S 6 0 1 "" NA18980 nsv516575 1 22588993 22598057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674738,nssv669268 M 2026 0 2 "" nsv522775 1 22600073 22600167 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698416 S 2026 0 1 "" nsv159512 1 22600080 22608663 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178090 M 24 "" nsv528939 1 22600167 22607557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705630 S 2026 0 1 "" esv163028 1 22604057 22604427 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv519793,essv537500 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA11831,NA12749 esv165622 1 22646566 22646929 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163763 S 185 0 2 Samples from several populations that are part of the HapMap project. "" NA18508,NA18945 esv166065 1 22662887 22663468 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162119 S 185 0 9 Samples from several populations that are part of the HapMap project. "" NA11831,NA12044,NA12154,NA12249,NA12716,NA18502,NA19102,NA19108,NA19129 esv42175 1 22673821 22674057 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112348 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv520015 1 22675221 22683030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697178 S 2026 0 1 "" nsv159392 1 22679557 22679695 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177970 M 24 "" nsv6187 1 22715564 22735921 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3965 S 9 0 1 "" NA12878 esv42942 1 22782206 22782307 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123330 S 6 0 1 Samples from several populations that are part of the HapMap project. ZBTB40 NA12878 esv164147 1 22795966 22796294 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv499843,essv507137 M 185 0 2 Samples from several populations that are part of the HapMap project. ZBTB40 NA11894,NA12003 esv163576 1 22799235 22799491 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv528632,essv502630 M 185 0 2 Samples from several populations that are part of the HapMap project. ZBTB40 NA11919,NA11995 nsv6298 1 22832508 22877564 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8765 S 9 0 1 ZBTB40 NA12156 nsv506921 1 22834549 22840549 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623263,nssv620646,nssv619226 M 4 3 0 ZBTB40 NA10860,NA15510,NA18994 nsv819803 1 22855681 22855985 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1418549 S 2 1 0 ZBTB40 AK1 nsv509024 1 22863483 22908236 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619780 S 4 1 0 EPHA8 NA10860 esv165673 1 22886509 22888294 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163822,esv163748,esv163975 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA18853,NA18858 esv27002 1 22886525 22888263 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17180 S 451 0 1 "" NA18858 esv26050 1 22889175 22891179 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12203,esv13267 M 451 3 0 EPHA8 NA06985,NA12044,NA18861 esv35802 1 22889189 22891238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113289,essv114344 M 6 0 2 Samples from several populations that are part of the HapMap project. EPHA8 NA12878,NA19238 esv259650 1 22896824 22897119 OTHER Complex Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv2393972,essv2394098,essv2393757,essv2394312 M 6 0 0 Samples from several populations that are part of the HapMap project. EPHA8 NA12878,NA19238,NA19239,NA19240 esv259678 1 22896841 22897136 OTHER Complex Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv2395351,essv2395644,essv2400819,essv2394691,essv2394577,essv2399320,essv2399248,essv2397697,essv2395475,essv2400524,essv2395989,essv2398310,essv2399764,essv2397261,essv2395189,essv2397760,essv2397318,essv2397081,essv2394967,essv2394519 M 144 0 0 Samples from several populations that are part of the HapMap project. EPHA8 NA12878,NA18501,NA18502,NA18508,NA18511,NA18522,NA18870,NA18916,NA18948,NA18952,NA18956,NA18965,NA19093,NA19108,NA19129,NA19225,NA19238,NA19239,NA19240,NA19257 esv37961 1 22896926 22897049 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv119440,essv120441,essv119849,essv120715 M 6 0 4 Samples from several populations that are part of the HapMap project. EPHA8 NA12878,NA19238,NA19239,NA19240 esv994542 1 22901386 22906644 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565422 S 3 1 0 EPHA8 HuRef dgv7383e59 1 22903064 22907663 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37092,esv35911,esv37584 M 6 0 3 EPHA8 NA19238,NA19239,NA19240 esv38722 1 22904291 22905545 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122528 S 6 0 1 Samples from several populations that are part of the HapMap project. EPHA8 NA19239 esv3577 1 22904316 22904674 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26018 S 1 0 1 Single Asian sample YH EPHA8 YH nsv820259 1 22904399 22904495 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1418885 S 2 1 0 EPHA8 AK1 esv1707275 1 22904487 22904487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714244 S 2 1 0 EPHA8 HuRef nsv160591 1 22904488 22905585 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179169 M 24 EPHA8 esv4502 1 22905411 22905658 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26943 S 1 0 1 Single Asian sample YH EPHA8 YH esv36444 1 22925364 22927563 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114900 S 6 0 1 Samples from several populations that are part of the HapMap project. EPHA8 NA12878 esv37823 1 22926003 22926321 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv117000,essv116894,essv118292 M 6 0 3 Samples from several populations that are part of the HapMap project. EPHA8 NA19238,NA19239,NA19240 esv34161 1 22926255 23144223 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684 esv160256 1 22974264 22978863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv468199,essv482919,essv444408,essv451724,essv440556,essv438053,essv481676,essv455615,essv438915,essv460160 M 185 0 10 Samples from several populations that are part of the HapMap project. C1QC NA11919,NA12155,NA12813,NA18582,NA18960,NA19098,NA19114,NA19159,NA19200,NA19240 esv41804 1 22981526 22981960 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111320 S 6 0 1 Samples from several populations that are part of the HapMap project. C1QB NA12878 esv161399 1 22983364 22987763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv473407,essv444533,essv463839,essv449736,essv451448,essv435539,essv434912,essv447298,essv470595,essv484078,essv431544,essv459444,essv490045,essv455608,essv439406,essv446567,essv436573,essv482648,essv489118,essv438093,essv491914 M 185 0 21 Samples from several populations that are part of the HapMap project. C1QB NA06994,NA12155,NA12717,NA12750,NA12813,NA12828,NA18510,NA18520,NA18532,NA18608,NA18853,NA18858,NA18940,NA18951,NA18961,NA18975,NA19098,NA19131,NA19147,NA19159,NA19172 esv162815 1 22985260 22985824 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv519479,essv524581,essv496955,essv509183,essv520477,essv521768,essv505180 M 185 0 7 Samples from several populations that are part of the HapMap project. C1QB NA18507,NA18947,NA18951,NA18980,NA19102,NA19138,NA19190 esv165206 1 22985360 22985454 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv549424,essv547616,essv551427 M 185 0 3 Samples from several populations that are part of the HapMap project. C1QB NA11994,NA12045,NA12763 esv1510090 1 22985821 22985883 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329170 S 2 0 1 C1QB HuRef dgv7384e59 1 23003564 23007063 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv35982,esv36090,esv37264 M 6 0 3 "" NA19238,NA19239,NA19240 esv39727 1 23005523 23005886 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv117486,essv118557,essv117150,essv117926,essv117860 M 6 0 5 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 dgv7385e59 1 23035264 23038963 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36801,esv36549 M 6 0 4 EPHB2 NA12878,NA19238,NA19239 esv161395 1 23035889 23039338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv465018,essv491484,essv458905,essv485158,essv461102,essv470912,essv480454,essv475408 M 185 0 8 Samples from several populations that are part of the HapMap project. EPHB2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv160775 1 23036364 23038663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv493374,essv460695,essv480593,essv469834,essv456156,essv486549,essv483744,essv495672,essv492504,essv438752,essv449799,essv453261,essv494039,essv435829,essv444906,essv468828,essv467676,essv431611,essv436540,essv494464,essv430871,essv476872,essv454603,essv440245,essv478596,essv456289,essv484623,essv444192,essv490773,essv439146,essv434673,essv466270,essv446773,essv482292,essv458018,essv443325,essv483360,essv489864,essv462363,essv429196,essv434265,essv488528,essv477496,essv463862,essv432556,essv453902,essv441485,essv487270,essv433148,essv472822,essv472415,essv469313,essv436906,essv447767,essv450877,essv448649,essv475069,essv463195,essv474268 M 185 0 59 Samples from several populations that are part of the HapMap project. EPHB2 NA06994,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18974,NA18975,NA18976,NA18981 esv40858 1 23052324 23052648 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111583 S 6 0 1 Samples from several populations that are part of the HapMap project. EPHB2 NA12878 esv41825 1 23057107 23057511 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112111 S 6 0 1 Samples from several populations that are part of the HapMap project. EPHB2 NA12878 esv2538911 1 23080863 23081608 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5338263 S 1 1 0 EPHB2 NA18507 nsv512725 1 23081288 23081518 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625350 S 1 1 0 EPHB2 1 nsv469829 1 23082022 23263410 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649850 M 265 0 Samples from several populations that are part of the HapMap project. EPHB2,MIR4253 nsv509036 1 23106632 23185991 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619781 S 4 1 0 EPHB2 NA10860 esv42222 1 23127815 23128367 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110860 S 6 0 1 Samples from several populations that are part of the HapMap project. EPHB2 NA19240 esv1389294 1 23130139 23130189 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987352 S 2 0 1 EPHB2 HuRef esv39350 1 23137215 23138147 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv121552 S 6 0 1 Samples from several populations that are part of the HapMap project. EPHB2 NA12892 esv40133 1 23139740 23139904 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112129 S 6 0 1 Samples from several populations that are part of the HapMap project. EPHB2 NA12878 esv163650 1 23141679 23141983 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv510584,essv536187 M 185 0 2 Samples from several populations that are part of the HapMap project. EPHB2 NA18942,NA18973 nsv528926 1 23189123 23206684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705616 S 2026 0 1 EPHB2,MIR4253 nsv6409 1 23224798 23256651 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1954 S 9 1 0 EPHB2 NA18555 esv41736 1 23267331 23267653 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112180 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2504682 1 23276463 23277392 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5188949 S 1 1 0 "" NA18507 esv1485438 1 23276947 23276947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125835 S 2 1 0 "" HuRef esv159609 1 23277664 23282263 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv466937,essv452786,essv429911,essv491126,essv487559,essv453899,essv451848,essv447758,essv452308,essv455002,essv439694,essv462089,essv470654,essv455356,essv444466,essv493471,essv474458,essv447940,essv445514,essv494987,essv483691,essv473145,essv467917,essv468931,essv490943,essv488529,essv452982,essv480257,essv452363,essv453448,essv466990,essv435189,essv441279,essv468182,essv456338,essv464473,essv440972,essv460890,essv481360,essv457846,essv459833,essv459443,essv455611,essv450541,essv488036,essv459934,essv482600,essv451720,essv472369,essv438070,essv430174,essv463185,essv473490,essv482883,essv437987,essv491412,essv437561,essv432407,essv445211,essv489238 M 185 0 60 Samples from several populations that are part of the HapMap project. "" NA06986,NA06994,NA07051,NA07346,NA07347,NA11830,NA11831,NA11832,NA11919,NA11920,NA11992,NA12003,NA12004,NA12045,NA12154,NA12155,NA12249,NA12716,NA12763,NA12878,NA12891,NA18489,NA18498,NA18499,NA18501,NA18504,NA18510,NA18519,NA18520,NA18522,NA18563,NA18564,NA18608,NA18638,NA18853,NA18856,NA18871,NA18912,NA18953,NA18959,NA18960,NA18961,NA18964,NA18967,NA18968,NA18971,NA18975,NA18976,NA19098,NA19102,NA19119,NA19137,NA19152,NA19159,NA19160,NA19171,NA19172,NA19200,NA19201,NA19238 esv161264 1 23278389 23281238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv464432,essv491561,essv461085,essv458441,essv485856,essv471892,essv480505,essv475746 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37489 1 23278864 23281513 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114408 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv819213 1 23311390 23338973 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1418711 S 2 0 1 LOC729059 AK1 esv40166 1 23335976 23336340 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112553 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv160176 1 23344789 23347338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476144,essv491813,essv459408,essv464313,essv479984,essv484702,essv470865,essv461565 M 185 0 8 Samples from several populations that are part of the HapMap project. KDM1A NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv6520 1 23404369 23423046 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5396 S 9 1 0 KDM1A,LUZP1 NA19129 nsv819728 1 23444732 23449173 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1419637 S 2 0 1 LUZP1 AK1 nsv834424 1 23459404 23602702 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444051 S 95 0 1 HTR1D,LUZP1 esv160878 1 23493389 23496238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv461641,essv475627,essv480355,essv471427,essv465150,essv492799,essv458368,essv485807 M 185 0 8 Samples from several populations that are part of the HapMap project. LUZP1 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36860 1 23493714 23496113 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115494,essv113282 M 6 0 2 Samples from several populations that are part of the HapMap project. LUZP1 NA19238,NA19240 nsv821976 1 23494701 23496410 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429554 S 31 1 0 LUZP1 AK14 nsv6631 1 23593894 23612773 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9804,nssv964,nssv3974,nssv10760,nssv1966,nssv5405,nssv6423 M 9 7 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv509047 1 23597965 23616571 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617990,nssv619782,nssv621087,nssv623777 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv42522 1 23599484 23599898 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110583 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv1003688 1 23603136 23604264 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564590 S 3 1 0 "" HuRef dgv1553e59 1 23666799 23666892 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv164742,esv164985,esv164646 M 185 0 8 HNRNPR NA11992,NA12044,NA12716,NA18519,NA18561,NA18570,NA18638,NA18949 esv161351 1 23669189 23671938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475934,essv480252,essv458620,essv461697,essv485453,essv471537,essv464451,essv492631 M 185 0 8 Samples from several populations that are part of the HapMap project. HNRNPR NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv40437 1 23694221 23694595 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110720 S 6 0 1 Samples from several populations that are part of the HapMap project. ZNF436 NA19240 nsv525446 1 23696152 23701312 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701574 S 2026 1 0 C1orf213,ZNF436 nsv521882 1 23710475 23714665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694653 S 2026 0 1 TCEA3 esv40799 1 23710971 23711175 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112275 S 6 0 1 Samples from several populations that are part of the HapMap project. TCEA3 NA12878 esv165312 1 23718760 23718841 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv549062,essv545164,essv548855,essv550583,essv543888,essv543193 M 185 0 6 Samples from several populations that are part of the HapMap project. TCEA3 NA07037,NA12043,NA18592,NA18858,NA18861,NA18948 nsv512726 1 23718769 23719127 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625351 S 1 1 0 TCEA3 1 esv43141 1 23718810 23719166 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39922 S 6 0 1 Samples from several populations that are part of the HapMap project. TCEA3 NA12892 esv2558689 1 23718859 23719060 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5285756 S 1 0 1 TCEA3 NA18507 esv164736 1 23718869 23718949 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv545052,essv547168,essv550529,essv548002,essv549562 M 185 0 5 Samples from several populations that are part of the HapMap project. TCEA3 NA10851,NA12717,NA18947,NA19108,NA19147 esv9540 1 23718954 23719135 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31981 S 1 0 1 TCEA3 SJK esv165848 1 23736149 23737872 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164029 S 185 0 8 Samples from several populations that are part of the HapMap project. TCEA3 NA18547,NA18550,NA18573,NA18582,NA18592,NA18940,NA18956,NA19099 dgv28n67 1 23736482 23737751 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821987,nsv821998 M 31 0 7 TCEA3 AK16,AK18,AK4,NA18547,NA18582,NA18592,NA18999 esv37135 1 23781064 23784963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116146 S 6 0 1 Samples from several populations that are part of the HapMap project. ASAP3 NA19239 nsv834435 1 23799462 23977931 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444062,nssv1444074 M 95 0 2 ASAP3,E2F2,ID3,MDS2 esv160570 1 23809389 23812238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv476154,essv492450,essv462270,essv471265,essv459393,essv464471,essv485636,essv479416 M 185 0 8 Samples from several populations that are part of the HapMap project. ASAP3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv819574 1 23809640 23811315 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1419305 S 2 1 0 ASAP3 AK1 esv35897 1 23809814 23811913 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114749 S 6 0 1 Samples from several populations that are part of the HapMap project. ASAP3 NA12878 dgv7386e59 1 23821654 23821795 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv40889,esv43046,esv42672,esv42877,esv42049 M 6 0 5 "" NA12878 esv1790599 1 23821744 23821744 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794850 S 2 1 0 "" HuRef esv163490 1 23844996 23845334 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv507041,essv537559 M 185 0 2 Samples from several populations that are part of the HapMap project. E2F2 NA11831,NA12003 nsv160295 1 23891060 23895251 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178873 M 24 "" nsv460840 1 23937261 23988361 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537340 S 1557 0 1 MDS2 1780862162_A esv160199 1 23950464 23954763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv460894,essv479291,essv492139,essv441051,essv489347,essv487879,essv460079,essv482423,essv484227,essv449239,essv446839,essv456681,essv459503,essv430851,essv449482,essv437595,essv453682 M 185 0 17 Samples from several populations that are part of the HapMap project. MDS2 NA06994,NA10847,NA11831,NA12717,NA12763,NA18504,NA18510,NA18517,NA18520,NA18547,NA18562,NA18953,NA18961,NA19138,NA19172,NA19207,NA19240 esv275297 1 23957771 23960856 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585424 S 1250 0 1 MDS2 esv267772 1 23981100 23981442 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517801,essv2514749,essv2515366,essv2518492,essv2513639,essv2517452,essv2516872,essv2516280 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11918,NA12234,NA12249,NA12287,NA12878,NA12891,NA12892 esv273330 1 23981107 23981439 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582886,essv2581763,essv2582338 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv164568 1 23981108 23981174 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv428912,essv428580,essv428507,essv428921,essv428850 M 185 0 5 Samples from several populations that are part of the HapMap project. "" NA11918,NA12234,NA12249,NA12287 esv42586 1 23981108 23981174 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv113006 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv161215 1 23990214 23991313 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv463127,essv455833,essv438419,essv489577,essv462858,essv476919,essv487187,essv433882,essv494656,essv483729,essv448466,essv483594,essv439050,essv453142,essv472608,essv457287,essv486538,essv493415,essv429419,essv454648,essv448946,essv433087,essv478729,essv441538,essv468576,essv444210,essv442996,essv495472,essv490792,essv458079,essv446820,essv444663,essv466489,essv456562,essv481888,essv477775,essv436144,essv491932,essv447445,essv472266,essv480944,essv477510,essv488506,essv465823,essv436840,essv467504,essv454086,essv430962,essv470060,essv469090,essv450608,essv460298,essv431774,essv434810,essv439815,essv432098 M 185 0 56 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18609,NA18940,NA18942,NA18943,NA18944,NA18949,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981 esv165305 1 23990586 23990653 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv546019,essv551028,essv549472,essv546740 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA18582,NA18909,NA18952,NA18961 nsv160080 1 24003478 24006906 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178658 M 24 "" esv36084 1 24029339 24031488 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113993,essv113753 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv160556 1 24068589 24071138 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475444,essv484666,essv464990,essv471588,essv459342,essv462303,essv480069,essv492256 M 185 0 8 Samples from several populations that are part of the HapMap project. TCEB3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv162617 1 24115199 24115498 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv537473,essv511634,essv515609 M 185 0 3 Samples from several populations that are part of the HapMap project. "" NA11831,NA12154,NA12828 esv35799 1 24155714 24157663 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114587 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv1587089 1 24163918 24163918 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060701 S 2 1 0 "" HuRef esv29329 1 24200146 24201391 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12811,esv15695 M 451 0 15 CNR2 NA11894,NA11931,NA11993,NA12004,NA12749,NA12878,NA18505,NA18511,NA18517,NA18861,NA18907,NA18909,NA19147,NA19190,NA19225 dgv29n67 1 24200462 24201312 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822032,nsv822043,nsv822009,nsv822020 M 31 0 5 CNR2 AK2,AK6,NA18947,NA18951,NA18972 esv36941 1 24204694 24228299 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv121012 S 6 0 1 Samples from several populations that are part of the HapMap project. CNR2 NA19240 esv991485 1 24208737 24214884 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3563891 S 3 1 0 CNR2 HuRef nsv512727 1 24210363 24210844 CNV Insertion Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625352 S 1 1 0 CNR2 1 esv1663042 1 24210836 24210836 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228988 S 2 1 0 CNR2 HuRef dgv7387e59 1 24211987 24212497 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv41742,esv38750 M 6 0 2 CNR2 NA12878,NA12891 esv35654 1 24228439 24230688 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113398,essv114653 M 6 0 2 Samples from several populations that are part of the HapMap project. CNR2 NA12878,NA19238 esv164602 1 24236355 24236462 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv549622,essv544097 M 185 0 2 Samples from several populations that are part of the HapMap project. CNR2 NA12414,NA18558 nsv6742 1 24253913 24287381 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2882 S 9 1 0 MIR378F,PNRC2 NA18555 esv36311 1 24255864 24364013 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115223,essv113343,essv114072,essv115629,essv113630,essv115949 M 6 0 6 Samples from several populations that are part of the HapMap project. PNRC2,SRSF10 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv165645 1 24256464 24363663 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv161614 S 185 0 65 Samples from several populations that are part of the HapMap project. PNRC2,SRSF10 NA06994,NA11881,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005 esv161301 1 24284889 24287738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475585,essv479453,essv471603,essv462169,essv484602,essv464344,essv492033,essv458439 M 185 0 8 Samples from several populations that are part of the HapMap project. PNRC2 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv144e188 1 24290336 24301721 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1802881,esv1795779 M 6 0 2 SRSF10 NA12239 esv161251 1 24305189 24307738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458942,essv492168,essv471243,essv464658,essv461171,essv479370,essv485385,essv476495 M 185 0 8 Samples from several populations that are part of the HapMap project. SRSF10 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv511683 1 24318869 24322191 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626322 S 1 0 1 "" 1 esv164848 1 24328737 24328803 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv428663,essv428935,essv428667,essv428922 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA12287,NA12873 esv270413 1 24328737 24328822 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517153 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv165913 1 24334889 24338238 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160577,esv160927 M 185 0 166 Samples from several populations that are part of the HapMap project. "" NA06986,NA06994,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11832,NA11881,NA11894,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12813,NA12828,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18507,NA18508,NA18510,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA19005,NA19093,NA19098,NA19099,NA19102,NA19108,NA19114,NA19119,NA19129,NA19131,NA19137,NA19138,NA19147,NA19152,NA19153,NA19159,NA19160,NA19172,NA19190,NA19200,NA19201,NA19204,NA19207,NA19209,NA19225,NA19238,NA19239,NA19240,NA19257 esv160094 1 24336389 24339238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv458704,essv480457,essv484897,essv461323,essv471566,essv491403,essv475340,essv465296 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 dgv1554e59 1 24367190 24367916 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv165823,esv163226,esv164053 M 185 0 18 "" NA11931,NA18486,NA18501,NA18502,NA18507,NA18517,NA18942,NA18952,NA19093,NA19114,NA19152,NA19190,NA19210 esv36473 1 24402314 24404313 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113313 S 6 0 1 Samples from several populations that are part of the HapMap project. MYOM3 NA19238 esv2609872 1 24402453 24404236 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5352209 S 1 0 1 MYOM3 NA18507 dgv7388e59 1 24402787 24403412 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43073,esv39181,esv38452 M 6 0 12 MYOM3 NA12892,NA19238,NA19239,NA19240 esv1968924 1 24402803 24403489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552184 S 1 0 1 MYOM3 NA18507 esv40517 1 24402980 24403326 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv119146 S 6 0 1 Samples from several populations that are part of the HapMap project. MYOM3 NA19240 esv166214 1 24402986 24403302 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163272,esv165233,esv162889,esv163095 M 185 0 80 Samples from several populations that are part of the HapMap project. MYOM3 NA07037,NA07051,NA10847,NA10851,NA11829,NA11831,NA11881,NA11919,NA11931,NA12006,NA12144,NA12154,NA12716,NA12751,NA12761,NA12763,NA12776,NA12828,NA18501,NA18505,NA18508,NA18510,NA18519,NA18520,NA18552,NA18562,NA18570,NA18577,NA18579,NA18592,NA18608,NA18858,NA18861,NA18871,NA18943,NA18945,NA18947,NA18948,NA18952,NA18959,NA18960,NA18961,NA18964,NA18973,NA19102,NA19129,NA19225,NA19238,NA19239,NA19240 esv989974 1 24402987 24403303 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3571507 S 3 0 1 MYOM3 HuRef esv1250620 1 24403003 24403320 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762899 S 2 0 1 MYOM3 HuRef esv5851 1 24403012 24403304 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28292 S 1 0 1 MYOM3 SJK nsv822054 1 24408340 24408971 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431798 S 31 0 1 MYOM3 AK20 nsv506922 1 24474568 24480568 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620647,nssv619227,nssv623264,nssv617526 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv506923 1 24491646 24497646 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623265,nssv619228,nssv620649,nssv617527 M 4 4 0 IL28RA CHM,NA10860,NA15510,NA18994 nsv6853 1 24492113 24526221 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8821 S 9 1 0 IL28RA NA12156 esv35337 1 24498694 24515136 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv121046,essv121201 M 6 0 2 Samples from several populations that are part of the HapMap project. IL28RA NA12891,NA12892 esv163487 1 24513973 24514358 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv535717,essv512695 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA11992,NA12043 esv161560 1 24518764 24523163 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv434000,essv486610,essv441672,essv437907,essv450752,essv472774,essv457035,essv445529,essv432733,essv433243,essv464063,essv442374,essv430448,essv442851,essv430862,essv486214,essv467082,essv467743,essv474228,essv490642,essv433408,essv443832,essv451911,essv445157,essv463553,essv484475,essv458120,essv455630,essv479089,essv494263,essv435344,essv467891,essv445288,essv436452,essv470249,essv466040,essv480673,essv437245,essv429337,essv482769,essv493715,essv474399,essv451264,essv491114,essv476995,essv488839 M 185 0 46 Samples from several populations that are part of the HapMap project. "" NA07037,NA11894,NA11995,NA12004,NA12155,NA12156,NA12414,NA12716,NA12751,NA12761,NA18499,NA18501,NA18507,NA18511,NA18519,NA18532,NA18537,NA18542,NA18547,NA18550,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18593,NA18603,NA18605,NA18609,NA18638,NA18871,NA18942,NA18945,NA18951,NA18965,NA18973,NA19005,NA19093,NA19099,NA19137,NA19238 esv29789 1 24520344 24523704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14913 S 451 0 7 "" NA07037,NA07045,NA11993,NA12004,NA12044,NA12414,NA12749 esv166468 1 24520348 24523674 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163011,esv163956,esv159759,esv162057,esv161999,esv163162 M 185 0 184 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07347,NA11881,NA11993,NA11994,NA11995,NA12004,NA12044,NA12156,NA12249,NA12414,NA12716,NA12749,NA12751,NA12761,NA12763,NA18504,NA18522,NA18532,NA18542,NA18547,NA18550,NA18561,NA18562,NA18563,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18856,NA18871,NA18942,NA18945,NA18951,NA18960,NA18961,NA18965,NA18973,NA19005,NA19116,NA19137,NA19201,NA19257 dgv30n67 1 24520813 24523406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822076,nsv822065,nsv822087 M 31 0 14 "" AK12,AK14,AK18,AK20,AK6,AK8,NA18542,NA18547,NA18570,NA18592,NA18942,NA18951,NA18969,NA18973 esv160786 1 24536564 24540863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv445233,essv482588,essv468973,essv468219,essv484191,essv438938,essv456358,essv480444,essv444721,essv440388,essv482742,essv489153 M 185 0 12 Samples from several populations that are part of the HapMap project. LOC284632 NA06994,NA07346,NA11919,NA12751,NA12763,NA12813,NA18520,NA18579,NA18582,NA18971,NA19172,NA19238 esv38219 1 24538508 24538848 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv122185,essv122499 M 6 0 2 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv162400 1 24538536 24538998 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv535108,essv506287,essv533257,essv497174,essv505766,essv531286,essv536370,essv535423,essv540623,essv524351,essv522011 M 185 0 11 Samples from several populations that are part of the HapMap project. "" NA06986,NA12287,NA18507,NA18558,NA18571,NA18576,NA18605,NA18861,NA18916,NA18973,NA19225 nsv822098 1 24555999 24556787 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434162 S 31 0 1 "" NA18570 nsv469575 1 24579697 24776396 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649688 M 265 0 Samples from several populations that are part of the HapMap project. C1orf201,GRHL3,NIPAL3 esv1964436 1 24592383 24592762 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922131 S 1 0 1 "" NA18507 nsv834447 1 24649583 24805208 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444085 S 95 0 1 C1orf201,GRHL3,NIPAL3 esv42849 1 24662017 24662118 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv122892 S 6 0 1 Samples from several populations that are part of the HapMap project. GRHL3 NA19240 esv42692 1 24667048 24667265 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111427 S 6 0 1 Samples from several populations that are part of the HapMap project. GRHL3 NA12878 esv42758 1 24671423 24671837 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123267 S 6 0 1 Samples from several populations that are part of the HapMap project. GRHL3 NA12878 esv164441 1 24671449 24671539 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv548598,essv548549,essv545562,essv546891,essv549819,essv544847,essv543524,essv551346,essv549638,essv549339,essv544539,essv543594 M 185 0 12 Samples from several populations that are part of the HapMap project. GRHL3 NA07357,NA11920,NA12489,NA12716,NA12878,NA18502,NA18572,NA18605,NA18609,NA18944,NA18951,NA19225 esv1739869 1 24671563 24671563 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074743 S 2 1 0 GRHL3 HuRef esv1745617 1 24671765 24671765 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185921 S 2 1 0 GRHL3 HuRef esv40912 1 24682328 24682781 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111203 S 6 0 1 Samples from several populations that are part of the HapMap project. GRHL3 NA12878 esv164167 1 24737910 24738284 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv525917,essv519550 M 185 0 2 Samples from several populations that are part of the HapMap project. C1orf201 NA18519,NA19102 esv41802 1 24764777 24765161 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112578 S 6 0 1 Samples from several populations that are part of the HapMap project. NIPAL3 NA12878 esv994910 1 24774896 24778511 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3565699 S 3 1 0 NIPAL3 HuRef nsv6965 1 24794996 24815142 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1967 S 9 0 1 NIPAL3 NA18555 esv1849714 1 24796838 24807014 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Illumina Human660W-Quad v1.0 BeadChip essv4389304 S 6 0 1 NIPAL3 NA18980 esv23193 1 24804297 24807640 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9733,esv19100 M 451 0 4 "" NA11931,NA11993,NA12489,NA12749 nsv498665 1 24804536 24807450 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585415 S 9 0 1 "" esv165832 1 24804564 24807571 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv159757,esv162511 M 185 0 54 Samples from several populations that are part of the HapMap project. "" NA07347,NA11830,NA11832,NA11931,NA11993,NA12043,NA12489,NA12716,NA12763,NA12776,NA18502,NA18507,NA18510,NA18523,NA18537,NA18547,NA18555,NA18561,NA18576,NA18579,NA18582,NA18592,NA18609,NA18638,NA18853,NA18907,NA18912,NA18942,NA18949,NA18951,NA18953,NA18956,NA18960,NA18961,NA18967,NA18980,NA18981,NA19098,NA19119,NA19152,NA19153,NA19160,NA19190,NA19200,NA19201,NA19204,NA19207,NA19209,NA19238 dgv145e188 1 24805294 24807186 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1822766,esv1823377,esv1850762,esv1843107,esv1842760,esv1824698,esv1847255,esv1843326,esv1842829,esv1822864,esv1849380,esv1815850,esv1823242,esv1821108,esv1820004,esv1823755,esv1822654,esv1818314,esv1818632,esv1851370,esv1844334,esv1845981,esv1820971,esv1847181,esv1849915,esv1850508,esv1821198,esv1822307,esv1815933,esv1844601 M 6 0 30 "" NA18576,NA18980 dgv146e188 1 24805294 24809462 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1851159,esv1843443 M 6 0 2 "" NA18980 nsv822109 1 24805694 24806860 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431800 S 31 0 1 "" AK20 dgv31n67 1 24805694 24807922 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822131,nsv822120 M 31 0 6 "" AK16,NA18537,NA18547,NA18582,NA18949,NA18969 nsv513983 1 24805893 24806705 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627736 S 1414 0 1 "" esv1298380 1 24821569 24821569 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759955 S 2 1 0 "" HuRef dgv7389e59 1 24828164 24830763 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36115,esv37047 M 6 0 2 RCAN3 NA19239 esv41664 1 24869869 24870481 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111886 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv436645 1 24895458 24902243 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465929 S 2 0 1 Samples from several populations that are part of the HapMap project. C1orf130 NA18505 esv165866 1 24895661 24900785 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163626 S 185 0 14 Samples from several populations that are part of the HapMap project. C1orf130 NA18486,NA18498,NA18505,NA18508,NA18511,NA18522,NA18853,NA18912,NA19098,NA19152,NA19172,NA19204,NA19207,NA19210 esv27046 1 24895796 24901144 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13814 S 451 0 3 C1orf130 NA18505,NA18508,NA18511 nsv834458 1 24904319 24996135 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444096 S 95 0 1 C1orf130,SRRM1 esv1961948 1 24928605 24929273 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674738 S 1 0 1 C1orf130 NA18507 esv39129 1 24928704 24929168 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System essv118521,essv117084 M 6 0 2 Samples from several populations that are part of the HapMap project. C1orf130 NA19238,NA19240 esv166167 1 24928796 24929081 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164578,esv163031,esv163549,esv163565 M 185 0 28 Samples from several populations that are part of the HapMap project. C1orf130 NA18486,NA18498,NA18511,NA18522,NA18853,NA18912,NA18916,NA19093,NA19210,NA19238,NA19240 esv43503 1 24928796 24929081 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv41193,esv39647,esv40680,esv37778 M 6 0 6 Samples from several populations that are part of the HapMap project. C1orf130 NA19238,NA19240 esv41525 1 24930998 25095659 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110844 S 6 0 1 Samples from several populations that are part of the HapMap project. C1orf130,CLIC4,SRRM1 NA19240 esv2560351 1 24940648 24941441 CNV Insertion McKernan_et_al_2009 19546169 Sequencing Not specified essv5277621 S 1 1 0 "" NA18507 esv164920 1 24941232 24941298 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv428794,essv428901,essv428882,essv428440,essv428641,essv428818,essv428365 M 185 0 7 Samples from several populations that are part of the HapMap project. "" NA11931,NA12815,NA12872,NA12874,NA19143 esv42684 1 24941232 24941298 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112976 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv270489 1 24941243 24941593 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518426,essv2514377,essv2517676,essv2516951,essv2518511,essv2516078,essv2513896,essv2517906 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12287,NA12872,NA12873,NA12874,NA12878,NA19143,NA19240 esv272231 1 24941243 24941593 CNV Insertion Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581052,essv2581568 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv164834 1 24958340 24958499 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv550424,essv542286,essv550332,essv544827,essv544199,essv543994 M 185 0 6 Samples from several populations that are part of the HapMap project. "" NA12489,NA18608,NA18853,NA18870,NA18949,NA19114 esv42394 1 24958350 24958498 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv118837 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 nsv160922 1 24958744 24967010 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179500 M 24 "" esv41215 1 24961233 24961660 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111826 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv460862 1 24986877 25039867 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537354 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SRRM1 HGDP00974 esv41249 1 25009670 25010077 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110515 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv161608 1 25070389 25073738 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471890,essv485040,essv458448,essv461135,essv464485,essv479657,essv475643,essv492853 M 185 0 8 Samples from several populations that are part of the HapMap project. CLIC4 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 nsv522437 1 25080522 25186716 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705795 S 2026 1 0 CLIC4 esv41239 1 25096696 25097276 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111518 S 6 0 1 Samples from several populations that are part of the HapMap project. CLIC4 NA12878 nsv7076 1 25116318 25196628 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3984,nssv973,nssv1983 M 9 0 3 CLIC4 NA12878,NA18555,NA19240 esv42243 1 25117940 25118185 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111892 S 6 0 1 Samples from several populations that are part of the HapMap project. CLIC4 NA12878 esv161659 1 25125189 25128238 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv491646,essv471033,essv461187,essv464855,essv458849,essv479751,essv484703,essv475375 M 185 0 8 Samples from several populations that are part of the HapMap project. CLIC4 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv2525447 1 25157720 25161753 CNV Deletion McKernan_et_al_2009 19546169 Sequencing Not specified essv5183045 S 1 0 1 CLIC4 NA18507 esv2082154 1 25158490 25161719 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974766 S 1 0 1 CLIC4 NA18507 nsv511684 1 25158545 25161741 CNV Loss Wilson et al 2010 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626323 S 1 0 1 CLIC4 1 esv3809 1 25158670 25161579 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26250 S 1 0 1 Single Asian sample YH CLIC4 YH nsv498666 1 25158687 25161526 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585426 S 9 0 1 CLIC4 esv165609 1 25158688 25161509 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163305,esv162773,esv163362,esv162352,esv164525 M 185 0 327 Samples from several populations that are part of the HapMap project. CLIC4 NA06985,NA06986,NA06994,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11832,NA11840,NA11881,NA11918,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12005,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12760,NA12761,NA12828,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18504,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18948,NA18949,NA18953,NA18959,NA18960,NA18961,NA18964,NA18973,NA19005,NA19099,NA19108,NA19114,NA19129,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 dgv7390e59 1 25158688 25161713 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv37589,esv43636 M 6 0 30 CLIC4 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv995974 1 25158690 25161511 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3571583 S 3 0 1 CLIC4 HuRef esv1446144 1 25158703 25161525 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781063 S 2 0 1 CLIC4 HuRef esv995045 1 25158703 25164490 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Not Submitted essv3564027 S 3 0 1 CLIC4 HuRef nsv160319 1 25158704 25161525 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178897 M 24 CLIC4 esv7429 1 25158705 25161513 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29870 S 1 0 1 CLIC4 SJK esv43319 1 25161287 25161464 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv40536 S 6 0 1 Samples from several populations that are part of the HapMap project. CLIC4 NA19240 esv165567 1 25178602 25184192 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv162213 S 185 0 1 Samples from several populations that are part of the HapMap project. "" NA07347 esv1823271 1 25189427 25380659 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4423336 S 6 1 0 RUNX3 NA18576 esv165682 1 25201734 25203732 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv163461,esv164088 M 185 0 11 Samples from several populations that are part of the HapMap project. "" NA18519,NA18909,NA19099,NA19116,NA19238,NA19239 esv43826 1 25201822 25203635 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv39778,esv41829,esv38424,esv36534,esv38287,esv37866,esv36774 M 6 0 16 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv26140 1 25201833 25203426 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10325 S 451 0 3 "" NA18909,NA19099,NA19240 nsv508581 1 25210979 25294719 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622760 S 4 0 1 RUNX3 NA18994 esv1831881 1 25226841 25364737 CNV Loss Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array Human CGH 3x720K Whole-Genome Tiling v3.0 Array essv4424186 S 6 0 1 RUNX3 NA15510 esv1800783 1 25229661 25272388 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4421594 S 6 1 0 RUNX3 NA12239 esv161230 1 25255189 25257938 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv475708,essv470935,essv480213,essv485356,essv461299,essv464728,essv459194,essv492569 M 185 0 8 Samples from several populations that are part of the HapMap project. RUNX3 NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv37288 1 25255589 25257913 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv113458,essv114430 M 6 0 2 Samples from several populations that are part of the HapMap project. RUNX3 NA12878,NA19238 esv163528 1 25275251 25275545 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv521520,essv523464,essv537531 M 185 0 3 Samples from several populations that are part of the HapMap project. RUNX3 NA11830,NA11831,NA11920 esv40581 1 25282933 25283315 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111061 S 6 0 1 Samples from several populations that are part of the HapMap project. RUNX3 NA12878 esv160635 1 25327389 25330338 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv471128,essv476353,essv461415,essv491783,essv458846,essv464933,essv485745,essv479648 M 185 0 8 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11832,NA11995,NA12287,NA12749,NA18961,NA19257 esv36047 1 25327614 25330188 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv114058,essv115008,essv113533,essv113487,essv115847 M 6 0 5 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239 esv160626 1 25327914 25329863 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv478319,essv469279,essv465912,essv468797,essv488993,essv469836,essv478802,essv429220,essv462505,essv433065,essv481028,essv454751,essv472176,essv456186,essv483324,essv487323,essv476826,essv486364,essv439894,essv449113,essv482087,essv444110,essv450929,essv477752,essv439323,essv446729,essv466535,essv495679,essv483836,essv456659,essv434408,essv490365,essv436375,essv438423,essv474972,essv432159,essv435802,essv474172,essv430896,essv437325,essv431862,essv447524,essv457008,essv494180,essv472842,essv441945,essv453320,essv463407,essv449868,essv494341,essv484862,essv460694,essv489569,essv491565,essv467655,essv442548,essv448087,essv444878,essv493112 M 185 0 59 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA11995,NA12006,NA12043,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA12813,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18975,NA18976,NA18980,NA18981,NA19005 esv162286 1 25328613 25329085 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv509077,essv498047,essv523033,essv532728,essv530186,essv512360,essv534435,essv532663,essv500026,essv501570 M 185 0 10 Samples from several populations that are part of the HapMap project. "" NA10851,NA11881,NA18537,NA18592,NA18858,NA18943,NA18945,NA18947,NA19114,NA19238 esv35514 1 25338464 25341363 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116310 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv160194 1 25344264 25348763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv495127,essv455437,essv449305,essv481943,essv464786,essv490032,essv472243,essv470684,essv429839,essv473410 M 185 0 10 Samples from several populations that are part of the HapMap project. "" NA10847,NA11832,NA11993,NA12155,NA12249,NA12828,NA18522,NA18608,NA18853,NA18976 esv35320 1 25361064 25364763 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv115588 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv37045 1 25363864 25367963 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv116120 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19239 esv42552 1 25380745 25381020 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111191 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv41297 1 25397907 25398160 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv110679 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv42716 1 25399721 25400208 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv112646 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv526082 1 25409607 25419442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702326 S 2026 0 1 "" nsv471772 1 25410887 25411058 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646053 M 0.021 95 "" esv40959 1 25415563 25415732 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv111421 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv163281 1 25423747 25424089 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv529803,essv529087 M 185 0 2 Samples from several populations that are part of the HapMap project. "" NA18501,NA18871 esv42984 1 25438234 25438366 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv123272 S 6 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv147e188 1 25441733 25547941 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1794997,esv1816235,esv1804826 M 6 3 0 "" NA12239,NA18517,NA18576 dgv44e1 1 25445510 25463851 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1221,essv5839 M 271 0 0 "" NA18524 nsv523480 1 25459432 25460648 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699245 S 2026 0 1 "" esv160459 1 25492914 25494113 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II essv452966,essv439852,essv470029,essv448235,essv436803,essv491621,essv436158,essv441575,essv434326,essv454031,essv460672,essv456270,essv462434,essv483203,essv488721,essv454936,essv466348,essv469378,essv490644,essv478879,essv487240,essv477508,essv468650,essv495341,essv444326,essv443125,essv446962,essv444885,essv477581,essv482357,essv494245,essv467446,essv431776,essv473872,essv486619,essv474630,essv489501,essv429259,essv450091,essv455815,essv447485,essv494773,essv434253,essv476551,essv464017,essv466013,essv436519,essv457275,essv450894,essv478377,essv442257,essv432301,essv431186,essv438477,essv481165,essv448804,essv462960,essv483934,essv433105 M 185 0 59 Samples from several populations that are part of the HapMap project. "" NA06994,NA11881,NA11993,NA12006,NA12043,NA12044,NA12144,NA12156,NA12717,NA12751,NA12761,NA12763,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18609,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18967,NA18971,NA18972,NA18973,NA18974,NA18975,NA18980,NA18981,NA19005 dgv7391e59 1 25493153 25493586 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv43682,esv38060 M 6 0 5 "" NA19238,NA19239,NA19240 esv162060 1 25493189 25493521 CNV Loss Durbin_et_al_2010 20981092 Sequencing Illumina Genome Analyzer II + ABI SOLiD System essv516874,essv508725,essv496487,essv501912 M 185 0 4 Samples from several populations that are part of the HapMap project. "" NA18504,NA18522,NA18856,NA19129 dgv148e188 1 25518737 25751654 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1824843,esv1807197 M 6 2 0 C1orf63,RHCE,RHD,SYF2,TMEM50A NA18517,NA18576 nsv818112 1 25519623 25525881 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417310 S 112 0 1 "" NA18608 nsv7187 1 25523618 25555997 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6432 S 9 1 0 SYF2 NA12156 esv1848313 1 25564815 25663139 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4423946 S 6 1 0 C1orf63,RHD NA18980 nsv7298 1 25571068 25672138 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10899,nssv3995,nssv9806,nssv6442 M 9 0 4 C1orf63,RHD,TMEM50A NA12156,NA12878,NA15510,NA18507 nsv232 1 25573018 25672138 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv232 S 1 0 1 C1orf63,RHD,TMEM50A NA15510 dgv149e188 1 25582378 25762497 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1798399,esv1822987,esv1849367,esv1849723,esv1800785,esv1814256,esv1819210,esv1795985,esv1808406,esv1811652,esv1817466,esv1815505,esv1847625,esv1803875,esv1805586 M 6 15 0 RHCE,RHD,TMEM50A,TMEM57 NA12239,NA18517,NA18576,NA18980 dgv150e188 1 25582378 25858717 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1794049,esv1845542,esv1811032,esv1798851 M 6 4 0 RHCE,RHD,TMEM50A,TMEM57 NA12239,NA18517,NA18980 nsv834469 1 25582406 25762535 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444196,nssv1444107,nssv1444140,nssv1444118,nssv1444173,nssv1444218,nssv1444207,nssv1444151,nssv1444162,nssv1444229,nssv1444185,nssv1444129,nssv1444240 M 95 2 11 RHCE,RHD,TMEM50A,TMEM57 dgv151e188 1 25582578 25667380 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array esv1844535,esv1793766,esv1795155,esv1824703,esv1814866,esv1812764,esv1803833,esv1794792,esv1807664,esv1806153,esv1812922,esv1846664,esv1842751,esv1850775,esv1823707,esv1823459,esv1797807,esv1822163,esv1820127,esv1794729,esv1819139 M 6 21 0 RHD,TMEM50A NA12239,NA18517,NA18576,NA18980 nsv9768 1 25583315 25767616 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17074,nssv13418,nssv14417,nssv14745,nssv17404,nssv14751,nssv12115,nssv15102,nssv18443,nssv13086,nssv13108,nssv15450,nssv14749,nssv16094,nssv13764,nssv14742,nssv14747,nssv15105,nssv12772,nssv13413,nssv15435,nssv13416,nssv13434,nssv15763,nssv13438,nssv15111,nssv29252,nssv13106,nssv12770,nssv16428,nssv13743,nssv14101,nssv15434,nssv13100,nssv12776,nssv15764,nssv13083,nssv13771,nssv13088,nssv15433,nssv16744 M 31 38 3 Samples from several populations that are part of the HapMap project. RHCE,RHD,TMEM50A,TMEM57 NA07048,NA10839,NA10847,NA10863,NA12155,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144,NA19221,NA19240 esv1824289 1 25583637 25631342 CNV Gain Pinto_et_al_2011 21552272 BAC_aCGH,Oligo_aCGH,SNP_array NimbleGen Human CGH 2.1M Whole-Genome Tiling Array essv4423250 S 6 1 0 RHD NA18576 nsv822143 1 25585016 25665386 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422364,nssv1430337,nssv1433413 M 31 0 3 RHD,TMEM50A AK16,NA18526,NA18552 nsv821372 1 25585016 25665432 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420280 S 1 0 1 RHD,TMEM50A NA10851 esv22615 1 25585225 25665195 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17091,esv19712 M 451 24 6 RHD,TMEM50A NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv32921 1 25585345 25664858 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96835,essv101286,essv101732,essv93733,essv95026,essv100169 M 51 3 3 RHD,TMEM50A 21659,21805,21909,21972,22231,22286 dgv3e180 1 25585436 25664813 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990723,esv1009924 M 3 2 0 RHD,TMEM50A HuRef esv166347 1 25587609 25658041 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv164068 S 185 0 21 Samples from several populations that are part of the HapMap project. RHD NA06994,NA10851,NA11919,NA11931,NA11993,NA12004,NA12006,NA12043,NA12044,NA12156,NA12414,NA12716,NA12761,NA12763,NA12828,NA18861,NA19131,NA19171,NA19172,NA19200,NA19209 esv2421857 1 25589146 25662212 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5108701,essv5013628,essv5158031,essv5054446,essv5151355,essv5109110,essv5058426,essv5065928,essv5141824,essv5037674,essv5033778,essv5065634,essv5094217,essv5057948,essv5129683,essv5109647,essv5034340,essv5120740,essv5025505,essv5156202,essv5131476,essv5039765,essv5069190,essv5044887,essv5089622,essv5124283,essv5113984,essv5152554,essv5023178,essv5066670,essv5130187,essv5070189,essv5128978,essv5152069,essv5033407,essv5145070,essv5016991,essv5044859,essv5048811,essv5147588,essv5117026,essv5128345,essv5121511,essv5136383,essv5153011,essv5158850,essv5143138,essv5125910,essv5068330,essv5054650,essv5034343,essv5115319,essv5122788,essv5106123,essv5113628,essv5108756,essv5058514,essv5091441,essv5090256,essv5116211,essv5047974,essv5063006,essv5009459,essv5116136,essv5157994,essv5017876,essv5008097,essv5062085,essv5025353,essv5159485,essv5108066,essv5119807,essv5017327,essv5089478,essv5082163,essv5125105,essv5105430,essv5075759,essv5139596,essv5138177,essv5146020,essv5050338,essv5142656,essv5130740,essv5015825,essv5088003,essv5078382,essv5128172,essv5099229,essv5009382,essv5090060,essv5149523,essv5067460,essv5065254,essv5002879,essv5120048,essv5022767,essv5109954,essv5048844,essv5145086,essv5153623,essv5016090,essv5009799,essv5087504,essv5091094,essv5002155,essv5058251,essv5113903,essv5056633,essv5087709,essv5022144,essv5088678,essv5064696,essv5028430,essv5135986,essv5080950,essv5021910,essv5078218,essv5115091,essv5017260,essv5055335,essv5026565,essv5140020,essv5014373,essv5079059,essv5155256,essv5147235,essv5127709,essv5059333,essv5046028,essv5130404,essv5064974,essv5116093,essv5123139,essv5116864,essv5147839,essv5035013,essv5122992,essv5037645,essv5088421,essv5030906,essv5008221,essv5080467,essv5054376,essv5124582,essv5007672,essv5028311,essv5040904,essv5072538,essv5111735,essv5118360,essv5130794,essv5093377,essv5158180,essv5042185,essv5085338,essv5128108,essv5128808,essv5157141,essv5157677,essv5091674,essv5134935,essv5046481,essv5129477,essv5047169,essv5141412,essv5130611,essv5033012,essv5133513,essv5112124,essv5114671,essv5140307,essv5111829,essv5069482,essv5092242,essv5152955,essv5133792,essv5024213,essv5028365,essv5158896,essv5097618,essv5067947,essv5050184,essv5076093,essv5003234,essv5080406,essv5012871,essv5150619,essv5122105,essv5035986,essv5014510,essv5125283,essv5051480,essv5073133,essv5064492,essv5157836,essv5055292,essv5020784,essv5142820,essv5134564,essv5014537,essv5139792,essv5123095,essv5148164,essv5055624,essv5030807,essv5083463,essv5109869,essv5010813,essv5153490,essv5047101,essv5131302,essv5004352,essv5058217,essv5005217,essv5025602,essv5045453,essv5082433,essv5003958,essv5003366,essv5150897,essv5026235,essv5135218,essv5089045,essv5039122,essv5053175,essv5124630,essv5018521,essv5105085,essv5003311,essv5068241,essv5033915,essv5091462,essv5113393,essv5085137,essv5024154,essv5058769,essv5132115,essv5073403,essv5022476,essv5032861,essv5025216,essv5047152,essv5130239,essv5151593,essv5039265,essv5021447,essv5136938,essv5059195,essv5096259,essv5017565,essv5087858,essv5057263,essv5156244,essv5012855,essv5003226,essv5008817,essv5142370,essv5159704,essv5137308,essv5027267,essv5155647,essv5144277,essv5047250,essv5125039,essv5032508,essv5024098,essv5046014,essv5020838,essv5036702,essv5016370,essv5041714,essv5033550,essv5056096,essv5099909,essv5114255,essv5124430,essv5106367,essv5055329,essv5133677,essv5002344,essv5023035,essv5133133,essv5057653,essv5089551,essv5002183,essv5106070,essv5108293,essv5113423,essv5116489,essv5010391,essv5118565,essv5082929,essv5137440,essv5076799,essv5067157,essv5011384,essv5034606,essv5078460,essv5160623,essv5026739,essv5007066,essv5079981,essv5118643,essv5078911,essv5151146,essv5132018,essv5046501,essv5066801,essv5018977,essv5138781,essv5049421,essv5056058,essv5076833,essv5154775,essv5029065,essv5094802,essv5016021,essv5016506,essv5037688,essv5037893,essv5049893,essv5063196,essv5107616,essv5004232,essv5113590,essv5073065,essv5079054,essv5003442,essv5014447,essv5040974,essv5024116,essv5138232,essv5033301,essv5025268,essv5065371,essv5007440,essv5158951,essv5007583,essv5094386,essv5088120,essv5143932,essv5070008,essv5110081,essv5053567,essv5105366,essv5077667,essv5058796,essv5094025,essv5080575,essv5053235,essv5042292,essv5151764,essv5080281,essv5047766,essv5147945,essv5111192,essv5157623,essv5154564,essv5152295,essv5024612,essv5095663,essv5060529,essv5010857,essv5145360,essv5017143,essv5048597,essv5066634,essv5146558,essv5037110,essv5158872,essv5083652,essv5059029,essv5009261,essv5143595,essv5059254,essv5149063,essv5137751,essv5147815,essv5044349,essv5053389,essv5145980,essv5095554,essv5141369,essv5004315,essv5122226,essv5079399,essv5076452,essv5130660,essv5059401,essv5135973,essv5045154,essv5018506,essv5081685,essv5098695,essv5056082,essv5082883,essv5136889,essv5135855,essv5128183,essv5038039,essv5050776,essv5142111,essv5105392,essv5147272,essv5124398,essv5043793,essv5133094,essv5012416,essv5065734,essv5097823,essv5118896,essv5023208,essv5096398,essv5029243,essv5121794,essv5015901,essv5134977,essv5150816 M 1184 0 419 RHD NA06984,NA06985,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07022,NA07029,NA07031,NA07037,NA07045,NA07055,NA07056,NA07346,NA07349,NA07357,NA10830,NA10831,NA10835,NA10837,NA10838,NA10839,NA10843,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11882,NA11893,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12154,NA12156,NA12234,NA12248,NA12272,NA12273,NA12282,NA12283,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12740,NA12751,NA12752,NA12753,NA12761,NA12763,NA12766,NA12775,NA12776,NA12802,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12878,NA12890,NA12891,NA17980,NA17993,NA18102,NA18122,NA18154,NA18157,NA18159,NA18484,NA18488,NA18497,NA18507,NA18515,NA18516,NA18518,NA18519,NA18520,NA18526,NA18546,NA18552,NA18571,NA18599,NA18609,NA18613,NA18614,NA18615,NA18620,NA18631,NA18636,NA18640,NA18704,NA18855,NA18861,NA18863,NA18867,NA18869,NA18871,NA18872,NA18940,NA18946,NA18955,NA18960,NA18964,NA18994,NA19001,NA19054,NA19066,NA19075,NA19078,NA19079,NA19094,NA19095,NA19102,NA19107,NA19109,NA19117,NA19118,NA19122,NA19131,NA19132,NA19140,NA19141,NA19143,NA19146,NA19154,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19181,NA19192,NA19193,NA19194,NA19200,NA19202,NA19203,NA19206,NA19209,NA19211,NA19214,NA19221,NA19222,NA19236,NA19237,NA19309,NA19317,NA19327,NA19350,NA19375,NA19379,NA19380,NA19382,NA19435,NA19448,NA19474,NA19649,NA19650,NA19652,NA19653,NA19654,NA19658,NA19659,NA19661,NA19662,NA19678,NA19680,NA19684,NA19685,NA19686,NA19700,NA19703,NA19716,NA19746,NA19749,NA19751,NA19773,NA19776,NA19778,NA19782,NA19784,NA19794,NA19819,NA19828,NA19900,NA19901,NA20276,NA20277,NA20279,NA20284,NA20287,NA20288,NA20289,NA20290,NA20297,NA20317,NA20319,NA20332,NA20333,NA20334,NA20335,NA20336,NA20342,NA20343,NA20344,NA20345,NA20349,NA20350,NA20356,NA20360,NA20363,NA20504,NA20505,NA20506,NA20509,NA20512,NA20516,NA20518,NA20519,NA20522,NA20524,NA20528,NA20529,NA20530,NA20534,NA20538,NA20539,NA20540,NA20541,NA20543,NA20586,NA20589,NA20752,NA20754,NA20755,NA20756,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20770,NA20771,NA20773,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20792,NA20796,NA20797,NA20801,NA20807,NA20808,NA20809,NA20811,NA20813,NA20819,NA20826,NA20846,NA20847,NA20849,NA20851,NA20852,NA20854,NA20858,NA20859,NA20861,NA20870,NA20871,NA20873,NA20875,NA20879,NA20882,NA20884,NA20885,NA20888,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20899,NA20900,NA20902,NA20904,NA20908,NA20911,NA21089,NA21090,NA21091,NA21092,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21107,NA21113,NA21115,NA21117,NA21118,NA21123,NA21137,NA21141,NA21143,NA21144,NA21295,NA21301,NA21302,NA21303,NA21333,NA21339,NA21353,NA21356,NA21359,NA21367,NA21371,NA21381,NA21385,NA21386,NA21390,NA21391,NA21399,NA21401,NA21402,NA21403,NA21404,NA21405,NA21423,NA21424,NA21434,NA21435,NA21436,NA21441,NA21473,NA21475,NA21478,NA21480,NA21488,NA21489,NA21490,NA21524,NA21574,NA21575,NA21583,NA21599,NA21600,NA21601,NA21631,NA21635,NA21636,NA21647,NA21648,NA21678,NA21717,NA21718,NA21738,NA21740,NA21825 dgv7392e59 1 25589464 25611263 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36824,esv35414,esv37170 M 6 0 3 RHD NA12878,NA12891 nsv433185 1 25589623 25664666 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463066 S 9 0 1 Samples from several populations that are part of the HapMap project. RHD NA12156 dgv7393e59 1 25590214 25665713 CNV Loss Durbin_et_al_2010 20981092 Sequencing esv36776,esv39262,esv43616,esv43785 M 6 0 4 RHD,TMEM50A NA12891,NA12892,NA19240 esv165512 1 25590464 25595363 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160292 S 185 0 60 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA07357,NA10851,NA11830,NA11831,NA11832,NA11919,NA11920,NA11931,NA11992,NA11993,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12154,NA12156,NA12414,NA12489,NA12716,NA12717,NA12751,NA12761,NA12763,NA12776,NA12828,NA12878,NA12891,NA18504,NA18507,NA18517,NA18519,NA18523,NA18526,NA18532,NA18542,NA18545,NA18552,NA18570,NA18571,NA18573,NA18609,NA18638,NA18856,NA18870,NA18871,NA18912,NA18940,NA18942,NA18960,NA18964,NA19093,NA19102,NA19131,NA19138,NA19172,NA19209 nsv820028 1 25590778 25664198 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array GSE19651 + GPL10329 + GPL8887 + GPL6985 nssv1418757 S 2 1 0 RHD AK1 nsv498667 1 25590970 25662955 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585437 S 9 0 1 RHD nsv7174 1 25591787 25718224 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9251,nssv9262 M 9 0 0 RHCE,RHD,TMEM50A NA18517 nsv513984 1 25592663 25663607 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627847 S 1414 1 0 RHD esv166068 1 25592964 25599963 CNV Loss Durbin_et_al_2010 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II + ABI SOLiD System esv160278 S 185 0 49 Samples from several populations that are part of the HapMap project. RHD NA06994,NA07037,NA07346,NA07357,NA10851,NA11830,NA11831,NA11919,NA11920,NA11931,NA11992,NA11993,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12156,NA12414,NA12489,NA12716,NA12751,NA12761,NA12763,NA12776,NA12828,NA12878,NA12891,NA18507,NA18519,NA18526,NA18547,NA18550,NA18552,NA18561,NA18564,NA18571,NA18609,NA18861,NA18871,NA18940,NA18947,NA18964,NA19102,NA19131,NA19172,NA19200 nsv442830 1 25593128 25662005 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.