variantaccession chr start end varianttype variantsubtype reference pubmedid method platform mergedvariants supportingvariants mergedorsample frequency samplesize observedgains observedlosses cohortdescription genes samples nsv7879 1 1 117193 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14782,nssv14763,nssv14776,nssv14775,nssv14777,nssv14770,nssv14780,nssv18103,nssv14789,nssv14781,nssv14790,nssv14772,nssv14788,nssv21423,nssv14784,nssv14771,nssv14786,nssv18093,nssv18117,nssv14787,nssv14766,nssv14783,nssv18113,nssv14791,nssv14785,nssv14762,nssv14773,nssv14768,nssv14764,nssv14774 M 31 25 1 Samples from several populations that are part of the HapMap project. FAM138A,FAM138F,LOC100288778,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 dgv1n71 1 1 346144 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870619,nsv871760 M 6533 2 0 FAM138A,FAM138F,LOC100132062,LOC100132287,LOC100133331,LOC100288778,LOC729737,OR4F5,WASH7P MS11497,SP58241 dgv2n71 1 1 836671 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871664,nsv871113 M 6533 3 0 FAM138A,FAM138F,FAM41C,LINC00115,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC100288778,LOC643837,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5,WASH7P IS30771,IS39243,IS41043 dgv1e1 1 377 167280 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15821,essv15097,essv10172,essv14783,essv9162,essv11114,essv3863 M 271 0 0 FAM138A,FAM138F,LOC100288778,LOC729737,OR4F5,WASH7P NA18860,NA18994,NA19129,NA19130,NA19159,NA19211,NA19223 nsv428112 1 377 167280 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,LOC100288778,LOC729737,OR4F5,WASH7P HGDP01088 dgv3e1 1 377 1008567 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6524,essv12864,essv7224,essv6104,essv606,esv595 M 271 0 0 AGRN,C1orf159,C1orf170,FAM138A,FAM138F,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC100288778,LOC643837,LOC729737,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,RNF223,SAMD11,WASH7P NA18502,NA18547,NA18572,NA18573,NA18947 esv27265 1 499 167231 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,LOC100288778,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 dgv3n71 1 10004 595956 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871393,nsv870710 M 6533 2 0 FAM138A,FAM138F,LOC100132062,LOC100132287,LOC100133331,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5,WASH7P IS31169,SP55842 nsv469759 1 17843 167209 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649780 M 265 14 0 Samples from several populations that are part of the HapMap project. FAM138A,FAM138F,LOC729737,OR4F5,WASH7P nsv471591 1 17844 167209 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550437,nssv550435,nssv550438,nssv550436 M 48 0 4 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P NA10492,NA10970,NA10971,NA17051 nsv437198 1 45257 76166 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 nsv437859 1 55871 68941 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471423,nssv469962,nssv471090,nssv468851,nssv471312,nssv471201,nssv467740,nssv470979 M 269 0 8 Samples from several populations that are part of the HapMap project. OR4F5 NA10831,NA10857,NA12044,NA12155,NA18912,NA18914,NA19207,NA19208 nsv514929 1 58360 60490 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 nsv161172 1 78053 79016 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179750 M 24 "" esv991724 1 126044 127189 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586083 S 3 0 1 LOC729737 HuRef nsv8990 1 166125 167223 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 nsv870793 1 227744 707348 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533163 S 6533 1 0 LOC100132062,LOC100132287,LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 MS11032 dgv4e1 1 307583 461231 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19438,essv19171,essv6302,essv2061 M 271 0 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA11840,NA12865,NA18609,NA18949 nsv428223 1 307583 461231 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450575,nssv450686 M 62 1 1 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 HGDP00984,NA18498 dgv5e1 1 307583 632895 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6152,essv21228,essv16896,essv14749,essv275,essv3049,essv1788,essv18422,essv479,essv7529,essv7127,essv6021,essv21797,essv6730,essv5344,essv563,essv22870,essv42,essv5822,essv15391,essv6816,essv13070,essv5209,essv4859,essv2576,essv6604,essv4965,essv20585,essv5049,essv8373,essv21138,essv14061,essv15368,essv18731,essv5240,essv4432,essv22385,essv16293,essv13159,essv18928,essv3078,essv398 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 307633 461200 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 13 17 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 307737 415038 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441629,nssv1441517,nssv1444850,nssv1447072,nssv1450405,nssv1442628,nssv1448183,nssv1443739,nssv1441518,nssv1445961,nssv1449294 M 95 1 10 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 nsv471518 1 308002 460787 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 nssv547890,nssv547887,nssv547888 M 3 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 dgv1n14 1 311662 456464 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433342,nsv433345,nsv433344 M 9 3 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA12156,NA18555,NA19240 nsv10050 1 337955 631462 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18107,nssv18114,nssv18121,nssv18095,nssv24597,nssv14769,nssv21446,nssv18100,nssv18111,nssv18098,nssv18096,nssv24606,nssv21441,nssv21443,nssv18109,nssv26896,nssv24594,nssv18118,nssv18105,nssv21439,nssv24614,nssv18116,nssv18112,nssv18120,nssv28054,nssv18101,nssv26902,nssv24604,nssv18099,nssv21433,nssv24618,nssv18119,nssv21426,nssv14765,nssv21424,nssv21450,nssv14767,nssv24612,nssv18106,nssv18110,nssv18104,nssv14778,nssv18094,nssv24595,nssv18092,nssv18115,nssv18102,nssv24620,nssv26886,nssv21447,nssv21435,nssv21449 M 31 8 30 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 nsv514924 1 356912 358042 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 nsv871303 1 389687 595956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570906 S 6533 0 1 "" IS32329 esv994970 1 426592 450877 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586250 S 3 0 1 "" HuRef dgv4n71 1 449226 615226 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870581,nsv871937 M 6533 0 3 OR4F16,OR4F29,OR4F3 SP55553,SP55804,SP56086 esv1004360 1 450924 461231 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586709 S 3 1 0 "" HuRef nsv871459 1 456464 617622 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513690 S 6533 1 0 OR4F16,OR4F29,OR4F3 SP55829 dgv6e1 1 511232 632895 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24485,essv18129,essv7831,essv680,essv1893,essv15885,essv8788,essv11817,essv24873,essv3867,essv4690,essv10773,essv1234,essv11842,essv3975,essv5438,essv1405,essv16081,essv852,essv20202,essv12580,essv9198,essv23137,essv18284,essv2348,essv16119,essv12160,essv8274,essv13656,essv11047,essv15246,essv12783,essv13620,essv18181,essv1953,essv9445,essv23929,essv23690,essv15724,essv24808,essv9009,essv15555,essv12294,essv11117,essv11947,essv24729,essv12450,essv15488,essv15621,essv8925,essv10404,essv1195,essv14290,essv6689,essv17510,essv11286,essv13768,essv22644,essv14424,essv21244,essv11537,essv20899,essv14172,essv4036,essv6244,essv16677,essv19212,essv24509,essv9346,essv13871,essv10692,essv12660,essv21964,essv19976,essv23021,essv20297,essv13036,essv3219,essv21709,essv9122,essv19771,essv14380,essv17097,essv18354,essv9811,essv5713,essv10930,essv10859,essv19599,essv8230,essv17122,essv22335,essv7384,essv9715,essv12764,essv23485,essv22778,essv14521,essv21382,essv15140,essv18622,essv22837,essv4875,essv8485,essv13540,essv5112,essv799,essv22228,essv7731,essv2208,essv5926,essv3733,essv16405,essv4148,essv22119,essv2295,essv2682,essv10308,essv4291 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 511276 713934 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 23 16 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 511321 537742 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586722 S 3 0 1 "" HuRef nsv471522 1 512002 746646 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,nssv547898,nssv547899 M 3 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 nsv830758 1 529118 646613 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442184,nssv1441962,nssv1441851,nssv1442073,nssv1442295,nssv1441740,nssv1442517,nssv1442406 M 95 0 8 OR4F16,OR4F29,OR4F3 dgv1e24 1 554297 639610 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750735,esv2750553,esv2750575,esv2750643,esv2750488,esv2750552,esv2750566,esv2750642,esv2750655,esv2750702,esv2750723,esv2750730,esv2750751 M 51 0 13 OR4F16,OR4F29,OR4F3 21634,21837,21847,21863,21872,21911,21938,21972,22007,22170,22231,22278,22371 dgv2n14 1 554340 696231 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433346,nsv433347 M 9 2 0 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 NA12156,NA19240 nsv820617 1 554403 560638 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419880 S 1 1 0 "" NA10851 nsv831869 1 569355 733174 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443406,nssv1443073,nssv1443517,nssv1442740,nssv1442629,nssv1443628,nssv1443184,nssv1443295,nssv1442851,nssv1442962 M 95 8 2 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 dgv7e1 1 622781 802347 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4575,essv5520,essv8112,essv19551,essv21546 M 271 0 0 FAM41C,LINC00115,LOC100133331,LOC100288069,LOC643837 NA12864,NA12873,NA18524,NA18529,NA19206 essv4734 1 622781 988152 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 nsv870961 1 664795 746302 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567218 S 6533 1 0 LOC100288069 IS31046 dgv5n71 1 688908 792493 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870766,nsv870864,nsv871796,nsv871816 M 6533 4 0 LINC00115,LOC100288069,LOC643837 MS10393,MS23767,SP52377,SP52432 dgv6n71 1 696231 766409 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871505,nsv871246,nsv871546,nsv871902 M 6533 5 0 LINC00115,LOC100288069,LOC643837 IS41769,SP51051,SP53412,SP56965,SP57983 nsv10161 1 701974 1698509 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28552,nssv28048,nssv28533,nssv26892,nssv21431,nssv26879,nssv24610,nssv28031,nssv21429,nssv18108,nssv21448,nssv28940,nssv26876,nssv26882,nssv28921,nssv26877,nssv21436,nssv28558,nssv26888,nssv28038,nssv24621,nssv24602,nssv28029,nssv28542,nssv24600,nssv28946 M 31 11 7 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 707782 733936 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 707782 737205 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621648,nssv624357 M 4 0 0 "" NA15510,NA18994 nsv513729 1 713995 716800 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626981 S 1 1 0 "" 1 esv26272 1 714177 717108 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 714177 717108 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420291 S 1 1 0 "" NA10851 dgv1n67 1 736271 839800 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821697,nsv822808,nsv823919 M 31 4 0 FAM41C,LINC00115,LOC643837 NA18564,NA18947,NA18951,NA18972 dgv1e55 1 742429 789326 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34681,esv34886 M 771 2 0 LINC00115,LOC643837 NA18620,NA18947 essv2408 1 742429 1008567 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 742429 1201155 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662132,nssv677805,nssv658652,nssv669544,nssv670683,nssv677935,nssv700902,nssv662754,nssv691743,nssv654371,nssv652918,nssv668090,nssv660727,nssv680332,nssv657472,nssv681209,nssv688100,nssv667239,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 744056 752485 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 744068 769619 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 esv1032937 1 746130 746130 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703690 S 2 1 0 "" HuRef nsv871252 1 751010 814156 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550103 S 6533 1 0 FAM41C,LINC00115,LOC643837 MS18290 nsv871911 1 753670 792493 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501433 S 6533 1 0 LOC643837 SP50857 dgv7n71 1 753670 841053 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870966,nsv871355,nsv870659,nsv871722,nsv871271,nsv871815 M 6533 6 0 FAM41C,LOC643837 SP50880,SP51411,SP56125,SP56832,SP56927,SP57163 nsv442837 1 755964 799636 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM41C,LOC643837 nsv298 1 762262 782522 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 773522 932280 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 esv1517733 1 778884 778933 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242314 S 2 0 1 LOC643837 HuRef nsv508924 1 779622 810192 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 esv1069885 1 792114 792114 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978908 S 2 1 0 "" HuRef nsv428334 1 799614 1145812 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 esv991325 1 800940 801701 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564868 S 3 1 0 FAM41C HuRef dgv2n67 1 802861 1351743 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 nsv509035 1 816649 910967 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621079,nssv619758 M 4 2 0 C1orf170,KLHL17,LOC100130417,NOC2L,PLEKHN1,SAMD11 NA10860,NA15510 dgv8n71 1 820044 871896 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871644,nsv871061 M 6533 0 3 LOC100130417,NOC2L,SAMD11 SP54725,SP54988,SP55021 nsv871883 1 820044 1020428 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573158,nssv1564241 M 6533 1 1 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC100130417,NOC2L,PLEKHN1,RNF223,SAMD11 IS30191,IS33248 dgv9n71 1 820044 1064487 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871440,nsv871153,nsv870592 M 6533 0 3 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC100130417,LOC254099,NOC2L,PLEKHN1,RNF223,SAMD11 IS39417,MS10311,SP54956 nsv871547 1 820044 1184667 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574977 S 6533 0 1 AGRN,B3GALT6,C1orf159,C1orf170,FAM132A,HES4,ISG15,KLHL17,LOC100130417,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS33684 dgv10n71 1 820044 1680910 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871124,nsv870496,nsv871621,nsv871723,nsv870831,nsv870837,nsv871887 M 6533 0 8 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 IS32322,IS34304,IS35484,IS37172,MS10769,MS16153,MS16315,MS17208 esv1562509 1 834463 834729 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716763 S 2 0 1 "" HuRef nsv511670 1 859114 860723 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626307 S 1 0 1 SAMD11 1 esv27608 1 859173 860210 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 859278 860210 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586109 S 3 0 1 SAMD11 HuRef esv1732269 1 859334 859446 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110931 S 2 0 1 SAMD11 HuRef esv1062785 1 859459 860187 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275138 S 2 0 1 SAMD11 HuRef esv2066434 1 861356 861730 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643302 S 1 0 1 SAMD11 NA18507 nsv870660 1 876247 908247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512780 S 6533 0 1 C1orf170,KLHL17,NOC2L,PLEKHN1 SP55624 dgv11n71 1 878522 1182378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870593,nsv871055,nsv870573,nsv870556,nsv871789,nsv871885,nsv870743 M 6533 0 8 AGRN,B3GALT6,C1orf159,C1orf170,FAM132A,HES4,ISG15,KLHL17,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS33504,IS33601,IS34235,IS37646,IS39233,IS41243,MS10386,MS11237 nsv482036 1 885830 890958 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 esv1003697 1 889874 889948 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568238 S 3 0 1 KLHL17 HuRef nsv159315 1 890012 890087 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177893 M 24 KLHL17 esv1001028 1 900918 903597 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565170 S 3 1 0 C1orf170 HuRef esv1165796 1 902141 903171 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038215 S 2 0 1 C1orf170 HuRef dgv12n71 1 908247 1379341 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870543,nsv870840,nsv871428,nsv871516,nsv871541,nsv871632,nsv871945,nsv870755,nsv871063 M 6533 0 9 ACAP3,AGRN,ATAD3C,AURKAIP1,B3GALT6,C1orf159,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,HES4,ISG15,LOC148413,LOC254099,LOC441869,MIR200A,MIR200B,MIR429,MRPL20,MXRA8,PUSL1,RNF223,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 IS33665,IS34057,IS38176,IS41410,IS41634,MS10123,MS10698,MS13727,MS13770 esv997839 1 918544 920627 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565560 S 3 0 1 "" HuRef dgv13n71 1 918699 1096336 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871064,nsv871522,nsv871619,nsv871160,nsv870574 M 6533 0 6 AGRN,C1orf159,HES4,ISG15,LOC254099,MIR200A,MIR200B,MIR429,RNF223 IS33178,IS33630,IS33776,IS33797,IS34005,MS18276 nsv871483 1 919053 967643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500911 S 6533 0 1 AGRN,HES4,ISG15 SP51109 nsv159328 1 921528 921593 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177906 M 24 "" esv1776849 1 921643 921643 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713900 S 2 1 0 "" HuRef nsv159419 1 921844 921974 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177997 M 24 "" nsv827252 1 923968 926370 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436318 S 31 1 0 HES4 NA18542 nsv828363 1 934543 938639 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436320,nssv1434856 M 31 1 1 "" NA18542,NA18942 nsv509146 1 935753 1036431 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619759,nssv621080 M 4 2 0 AGRN,C1orf159,ISG15,RNF223 NA10860,NA15510 dgv14n71 1 938821 984254 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870603,nsv870473,nsv870533 M 6533 0 4 AGRN,ISG15 SP50159,SP54593,SP54657,SP55992 dgv15n71 1 939517 1002388 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870826,nsv871669,nsv870936 M 6533 0 5 AGRN,ISG15,RNF223 SP54043,SP54684,SP54725,SP54988,SP55021 nsv871424 1 940371 969611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511160 S 6533 0 1 AGRN SP55019 dgv16n71 1 949705 977063 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870594,nsv871495 M 6533 0 2 AGRN SP54672,SP54967 nsv871557 1 952583 1002388 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503528 S 6533 1 0 AGRN,RNF223 SP52077 esv29017 1 953522 954343 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 esv987912 1 953683 954343 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586137 S 3 0 1 AGRN HuRef esv4415 1 953701 954430 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26856 S 1 0 1 Single Asian sample YH AGRN YH esv6517 1 954844 955351 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28958 S 1 0 1 AGRN SJK esv1064309 1 955858 955858 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670093 S 2 1 0 AGRN HuRef nsv870874 1 970323 1019668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509304 S 6533 0 1 AGRN,C1orf159,RNF223 SP54782 nsv871349 1 970323 1054842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514668 S 6533 0 1 AGRN,C1orf159,RNF223 SP56047 nsv829425 1 981285 983720 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434857 S 31 0 1 AGRN NA18942 nsv470680 1 995669 1303878 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547649,nssv547650,nssv547648 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 esv25577 1 1001051 1004691 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 1001111 1004546 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586245 S 3 1 0 "" HuRef nsv870663 1 1008567 1064487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592784 S 6533 0 1 C1orf159,LOC254099 IS39258 dgv17n71 1 1008567 1295424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870958,nsv871432,nsv871822 M 6533 0 4 ACAP3,B3GALT6,C1orf159,CPSF3L,DVL1,FAM132A,GLTPD1,LOC254099,MIR200A,MIR200B,MIR429,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS33239,IS39417,IS40230,MS13095 nsv1409 1 1020714 1049928 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 esv1010559 1 1024271 1025066 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586664 S 3 1 0 C1orf159 HuRef esv23529 1 1024271 1025066 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 esv1281251 1 1024878 1024878 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028372 S 2 1 0 C1orf159 HuRef dgv18n71 1 1033923 1109721 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871293,nsv870869 M 6533 0 3 C1orf159,LOC254099,MIR200A,MIR200B,MIR429,TTLL10 IS38144,MS10311,MS17825 nsv871553 1 1033923 1182378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595631 S 6533 0 1 B3GALT6,C1orf159,FAM132A,LOC254099,MIR200A,MIR200B,MIR429,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS40297 dgv19n71 1 1033923 1404875 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871511,nsv870540,nsv871129,nsv871394,nsv870625,nsv871946 M 6533 0 7 ACAP3,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,LOC148413,LOC254099,LOC441869,MIR200A,MIR200B,MIR429,MRPL20,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 IS30369,IS31656,IS32737,IS33361,IS33455,IS40396,SP54956 dgv20n71 1 1033923 1648805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871830,nsv871244,nsv870474,nsv870753 M 6533 0 4 ACAP3,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf70,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,GLTPD1,LOC148413,LOC254099,LOC441869,LOC643988,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MRPL20,MXRA8,PUSL1,SCNN1D,SDF4,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 IS32841,IS33504,IS41317,MS10311 nsv160439 1 1034078 1034388 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179017 M 24 C1orf159 nsv870771 1 1039813 1064487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510622 S 6533 0 1 C1orf159,LOC254099 SP54988 esv32594 1 1041551 1041689 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 nsv160193 1 1048777 1048856 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178771 M 24 "" esv2630187 1 1062939 1066829 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357752 S 1 0 1 LOC254099 NA18507 esv26506 1 1064242 1065980 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 nsv870527 1 1065697 1278446 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564415 S 6533 1 0 ACAP3,B3GALT6,CPSF3L,DVL1,FAM132A,GLTPD1,LOC254099,MIR200A,MIR200B,MIR429,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS30210 nsv161017 1 1065770 1065952 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179595 M 24 LOC254099 nsv469848 1 1071325 1247478 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649869 M 265 12 0 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 esv2524046 1 1073630 1078667 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287439 S 1 0 1 "" NA18507 esv2587289 1 1074686 1080803 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220272 S 1 0 1 "" NA18507 esv2317109 1 1076513 1077044 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717325 S 1 0 1 "" NA18507 nsv509257 1 1077198 1114713 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 dgv21n71 1 1077546 1200826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870699,nsv871637,nsv870767,nsv871915 M 6533 0 5 B3GALT6,FAM132A,MIR200A,MIR200B,MIR429,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS39258,IS40502,IS40799,MS11306,MS11467 nsv871744 1 1080420 1182378 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599197 S 6533 1 0 B3GALT6,FAM132A,MIR200A,MIR200B,MIR429,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS41433 nsv871079 1 1089205 1110877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509704 S 6533 0 1 MIR200A,MIR200B,MIR429,TTLL10 SP54956 dgv22n71 1 1089205 1295424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871404,nsv870892,nsv870738,nsv871039,nsv871180 M 6533 0 11 ACAP3,B3GALT6,CPSF3L,DVL1,FAM132A,GLTPD1,MIR200A,MIR200B,MIR429,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS30197,IS32888,IS34407,IS38144,IS38538,IS41894,MS11054,MS11579,MS12262,MS15997,MS19414 nsv829536 1 1102010 1102952 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436321 S 31 1 0 TTLL10 NA18542 nsv871107 1 1110133 1200826 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593131 S 6533 0 1 B3GALT6,FAM132A,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS39363 dgv23n71 1 1120590 1184667 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871779,nsv871345 M 6533 0 2 B3GALT6,FAM132A,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 SP54043,SP54988 nsv870548 1 1121065 1132589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507389 S 6533 0 1 TNFRSF18,TTLL10 SP54725 nsv871427 1 1121065 1145994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509034 S 6533 0 1 SDF4,TNFRSF18,TNFRSF4,TTLL10 SP54684 nsv871680 1 1121065 1161112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511301 S 6533 0 1 B3GALT6,SDF4,TNFRSF18,TNFRSF4,TTLL10 SP55021 nsv871133 1 1125105 1132589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514000 S 6533 0 1 TNFRSF18 SP55882 dgv24n71 1 1125105 1142494 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871139,nsv871599 M 6533 0 2 SDF4,TNFRSF18,TNFRSF4 SP50159,SP55992 nsv871329 1 1125105 1244704 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578820 S 6533 1 0 ACAP3,B3GALT6,CPSF3L,FAM132A,PUSL1,SCNN1D,SDF4,TNFRSF18,TNFRSF4,UBE2J2 IS34912 dgv25n71 1 1125105 1370430 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871270,nsv870912,nsv871234,nsv871814,nsv871183 M 6533 0 5 ACAP3,AURKAIP1,B3GALT6,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,UBE2J2,VWA1 IS33248,IS36876,IS37646,MS10386,MS19630 esv24081 1 1126866 1128146 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 dgv26n71 1 1130298 1181733 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871213,nsv871331,nsv871051,nsv871594,nsv871142,nsv870735 M 6533 0 7 B3GALT6,FAM132A,SDF4,TNFRSF18,TNFRSF4,UBE2J2 SP51109,SP54672,SP54750,SP54782,SP54967,SP55019,SP81010 nsv871512 1 1130733 1153827 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518102 S 6533 0 1 SDF4,TNFRSF18,TNFRSF4 SP57469 esv9332 1 1132571 1133002 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31773 S 1 0 1 "" SJK dgv27n71 1 1132725 1161112 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870938,nsv870832 M 6533 0 2 B3GALT6,SDF4,TNFRSF4 SP54591,SP54725 nsv455661 1 1142494 1201155 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 nsv871327 1 1142494 1229798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592082 S 6533 0 1 ACAP3,B3GALT6,FAM132A,SCNN1D,SDF4,UBE2J2 IS39233 nsv159887 1 1142956 1147823 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178465 M 24 SDF4 nsv870639 1 1148140 1278446 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551379 S 6533 0 1 ACAP3,B3GALT6,CPSF3L,DVL1,FAM132A,GLTPD1,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,UBE2J2 MS18848 nsv871666 1 1148140 1295424 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542680,nssv1599268 M 6533 1 1 ACAP3,B3GALT6,CPSF3L,DVL1,FAM132A,GLTPD1,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,UBE2J2 IS41524,MS15835 nsv871965 1 1148494 1180386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514262 S 6533 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 SP55992 nsv821698 1 1154213 1159633 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433403 S 31 1 0 B3GALT6,SDF4 NA18526 esv33767 1 1157979 1158939 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 esv5277 1 1173061 1173724 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27718 S 1 0 1 Single Asian sample YH "" YH esv1750792 1 1174236 1174500 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720664 S 2 0 1 "" HuRef nsv817616 1 1182378 1231947 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417737 S 112 0 1 ACAP3,SCNN1D,UBE2J2 NA19003 dgv28n71 1 1184667 1295424 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870863,nsv871910 M 6533 3 0 ACAP3,CPSF3L,DVL1,GLTPD1,MXRA8,PUSL1,SCNN1D,TAS1R3,UBE2J2 IS30265,IS41193,MS10758 dgv8e1 1 1189183 1309735 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv64,esv462 M 271 0 0 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MXRA8,PUSL1,SCNN1D,TAS1R3,UBE2J2 NA18991 dgv29n71 1 1191495 1295424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871853,nsv871405,nsv870586,nsv871354 M 6533 0 11 ACAP3,CPSF3L,DVL1,GLTPD1,MXRA8,PUSL1,SCNN1D,TAS1R3,UBE2J2 IS38403,IS39817,IS40297,MS15199,MS20670,SP51109,SP54782,SP54988,SP55021,SP56223,SP57469 nsv870963 1 1196206 1239050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505908 S 6533 0 1 ACAP3,CPSF3L,PUSL1,SCNN1D,UBE2J2 SP54043 dgv30n71 1 1201155 1389679 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870614,nsv871493,nsv870965 M 6533 3 0 ACAP3,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,SCNN1D,TAS1R3,TMEM88B,VWA1 IS33070,IS35581,MS17730 dgv31n71 1 1201155 1452629 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871901,nsv871797 M 6533 2 0 ACAP3,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,SCNN1D,TAS1R3,TMEM88B,VWA1 IS38271,IS39494 dgv32n71 1 1209999 1379341 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871460,nsv870855,nsv870677 M 6533 5 15 ACAP3,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,SCNN1D,TAS1R3,TMEM88B,VWA1 IS30835,IS30923,IS30953,IS32843,IS33178,IS33243,IS33263,IS33601,IS33797,IS34005,IS35726,IS36910,IS37825,IS37985,IS38293,IS38431,IS39258,IS41128,MS14318,MS22568 dgv33n71 1 1209999 1483590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870957,nsv871314 M 6533 0 2 ACAP3,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,C1orf70,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,SCNN1D,SSU72,TAS1R3,TMEM88B,VWA1 IS33162,MS18276 dgv34n71 1 1209999 1735586 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871002,nsv870481 M 6533 0 2 ACAP3,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,C1orf70,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,GLTPD1,GNB1,LOC148413,LOC441869,LOC643988,MIB2,MMP23A,MMP23B,MRPL20,MXRA8,NADK,PUSL1,SCNN1D,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM88B,VWA1 IS33684,IS39233 dgv35n71 1 1212369 1238194 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870857,nsv871895 M 6533 0 3 ACAP3,CPSF3L,PUSL1,SCNN1D SP51042,SP54042,SP54967 esv25372 1 1213422 1215557 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 1213431 1215612 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4728356 S 1 0 1 SCNN1D NA18507 nsv499366 1 1213443 1215496 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585600 S 9 1 0 SCNN1D esv1004967 1 1213507 1215472 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586753 S 3 1 0 SCNN1D HuRef nsv511671 1 1213721 1215484 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626308 S 1 0 1 SCNN1D 1 esv1653789 1 1213810 1214092 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908676 S 2 0 1 SCNN1D HuRef esv1027332 1 1214136 1215179 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148647 S 2 0 1 SCNN1D HuRef esv1323061 1 1215269 1215269 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960677 S 2 1 0 SCNN1D HuRef dgv36n71 1 1218034 1239050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870813,nsv871109 M 6533 0 2 ACAP3,CPSF3L,PUSL1 SP54725,SP54979 nsv160950 1 1218975 1218975 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179528 M 24 ACAP3 esv3050 1 1222311 1223087 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25491 S 1 0 1 Single Asian sample YH ACAP3 YH dgv37n71 1 1227692 1239050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871899,nsv871311,nsv870796,nsv871847 M 6533 0 8 ACAP3,CPSF3L,PUSL1 SP54225,SP54577,SP54621,SP54935,SP55318,SP55992,SP56047,SP81010 nsv870491 1 1229202 1285186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500512 S 6533 0 1 ACAP3,CPSF3L,DVL1,GLTPD1,MXRA8,PUSL1,TAS1R3 SP50159 dgv38n71 1 1231947 1379341 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870808,nsv871452,nsv870583 M 6533 0 6 ACAP3,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,TAS1R3,TMEM88B,VWA1 IS30837,IS31082,IS31282,IS31728,IS32803,IS33630 dgv39n71 1 1248109 1285186 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870913,nsv871211 M 6533 0 3 CPSF3L,DVL1,GLTPD1,MXRA8,TAS1R3 SP54043,SP54684,SP54725 nsv511672 1 1275043 1276733 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626309 S 1 0 1 "" 1 esv23965 1 1275263 1276763 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 1275263 1276763 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586390 S 3 0 1 "" HuRef esv3820 1 1292241 1292688 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26261 S 1 0 1 Single Asian sample YH "" YH esv9582 1 1292426 1292745 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32023 S 1 0 1 "" SJK nsv871837 1 1300787 1626497 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534671 S 6533 0 1 ATAD3A,ATAD3B,ATAD3C,C1orf70,CCNL2,CDK11A,CDK11B,LOC148413,LOC441869,LOC643988,MIB2,MMP23A,MMP23B,MRPL20,SLC35E2B,SSU72,TMEM88B,VWA1 MS11726 nsv871690 1 1303878 1735586 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589212 S 6533 1 0 ATAD3A,ATAD3B,ATAD3C,C1orf70,CCNL2,CDK11A,CDK11B,GNB1,LOC148413,LOC441869,LOC643988,MIB2,MMP23A,MMP23B,MRPL20,NADK,SLC35E2,SLC35E2B,SSU72,TMEM88B,VWA1 IS38315 esv2540358 1 1307160 1307861 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193104 S 1 1 0 "" NA18507 essv5472 1 1314392 1506413 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 1314392 2014198 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv532,essv3870 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 dgv40n71 1 1328459 1375074 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871832,nsv870642,nsv871434,nsv870455,nsv871507 M 6533 0 16 ATAD3C,LOC441869,MRPL20,TMEM88B,VWA1 SP51109,SP54043,SP54225,SP54591,SP54593,SP54657,SP54672,SP54684,SP54725,SP54750,SP54967,SP54988,SP55019,SP55021,SP55056,SP81010 nsv871787 1 1343243 1370430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500230 S 6533 0 1 LOC441869,TMEM88B,VWA1 SP50159 esv24333 1 1352293 1353399 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 dgv41n71 1 1366010 1429534 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870939,nsv871420 M 6533 2 0 ATAD3B,ATAD3C,VWA1 SP53490,SP54401 nsv482135 1 1374932 1395401 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 dgv42n71 1 1389679 1498897 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871029,nsv870563 M 6533 0 2 ATAD3A,ATAD3B,ATAD3C,C1orf70,SSU72 IS31656,SP54988 dgv43n71 1 1389679 1648805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871781,nsv870996,nsv870702,nsv870900,nsv870550,nsv870476,nsv870636,nsv871134,nsv871886 M 6533 0 12 ATAD3A,ATAD3B,ATAD3C,C1orf70,CDK11A,CDK11B,LOC643988,MIB2,MMP23A,MMP23B,SLC35E2,SLC35E2B,SSU72 IS31082,IS33178,IS33630,IS33665,IS34407,IS35287,IS35566,IS36910,IS37646,IS38235,IS39417,MS12545 nsv482146 1 1397027 1421444 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 1403212 1403212 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989689 S 2 1 0 ATAD3B HuRef esv25832 1 1404772 1406058 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 nsv871421 1 1404962 1441243 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499675 S 6533 0 1 ATAD3A,ATAD3B SP50156 nsv871696 1 1404962 1464030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509706 S 6533 0 1 ATAD3A,ATAD3B,C1orf70 SP54956 dgv44n71 1 1407979 1610720 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871514,nsv870988 M 6533 3 5 ATAD3A,ATAD3B,C1orf70,CDK11B,LOC643988,MIB2,MMP23A,MMP23B,SLC35E2B,SSU72 IS31728,IS32843,IS33243,IS33514,IS33871,IS41243,IS41410,MS15199 nsv871954 1 1415563 1712445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575689 S 6533 0 1 ATAD3A,ATAD3B,C1orf70,CDK11A,CDK11B,GNB1,LOC643988,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B,SSU72 IS33797 nsv821809 1 1433831 1437382 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428013 S 31 1 0 "" AK10 nsv821920 1 1433831 1453689 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440791 S 31 1 0 ATAD3A NA18969 nsv482157 1 1437418 1459927 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 nsv871540 1 1452629 1695996 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558399 S 6533 1 0 ATAD3A,C1orf70,CDK11A,CDK11B,LOC643988,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B,SSU72 MS23257 dgv45n71 1 1452629 1712445 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871628,nsv871896,nsv870495 M 6533 0 5 ATAD3A,C1orf70,CDK11A,CDK11B,GNB1,LOC643988,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B,SSU72 IS30764,IS31445,IS38463,IS38724,MS11579 esv1301718 1 1468970 1468970 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821253 S 2 1 0 SSU72 HuRef esv1010850 1 1490872 1490872 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572228 S 3 1 0 SSU72 HuRef nsv870847 1 1500664 1634768 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509707 S 6533 0 1 CDK11A,CDK11B,LOC643988,MIB2,MMP23A,MMP23B,SLC35E2B SP54956 nsv871940 1 1516133 1563724 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507456,nssv1511163,nssv1501664 M 6533 0 3 CDK11B,LOC643988,MIB2,MMP23A,MMP23B SP51109,SP54684,SP55019 dgv46n71 1 1516133 1586883 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871681,nsv870887 M 6533 0 3 CDK11B,LOC643988,MIB2,MMP23A,MMP23B,SLC35E2B SP54043,SP54672,SP54988 esv998174 1 1530713 1531833 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586347 S 3 1 0 "" HuRef esv23829 1 1530793 1531833 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 nsv822031 1 1542495 1543199 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434858 S 31 0 1 MIB2 NA18942 dgv47n71 1 1557334 1634768 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871496,nsv871301 M 6533 0 2 CDK11A,CDK11B,MMP23A,MMP23B,SLC35E2B SP52946,SP57045 nsv871583 1 1557334 1670079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512077 S 6533 0 1 CDK11A,CDK11B,MMP23A,MMP23B,SLC35E2,SLC35E2B SP55277 esv27786 1 1557744 1673566 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 dgv48n71 1 1563724 1615647 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870539,nsv871202 M 6533 3 0 CDK11B,SLC35E2B SP50521,SP54604,SP57078 nsv871676 1 1563724 1617847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504073 S 6533 0 1 CDK11B,SLC35E2B SP52175 nsv871749 1 1563724 1626497 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500453,nssv1517515,nssv1511892,nssv1506204,nssv1513497 M 6533 3 2 CDK11A,CDK11B,MMP23A,SLC35E2B SP50137,SP54078,SP55160,SP55789,SP57299 nsv870598 1 1563724 1635226 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502536 S 6533 1 0 CDK11A,CDK11B,MMP23A,SLC35E2B SP51244 esv1336011 1 1574409 1574409 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160103 S 2 1 0 CDK11B HuRef dgv3n67 1 1575237 1657017 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822253,nsv822142,nsv822364 M 31 3 0 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B NA18542,NA18566,NA18582 dgv49n71 1 1585061 1635226 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870658,nsv870974 M 6533 0 2 CDK11A,CDK11B,MMP23A,SLC35E2B SP50098,SP51353 dgv50n71 1 1586883 1634768 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870717,nsv871135 M 6533 2 0 CDK11A,CDK11B,MMP23A,SLC35E2B SP55558,SP55864 nsv871030 1 1586883 1643532 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516131 S 6533 1 0 CDK11A,CDK11B,MMP23A,SLC35E2B SP56458 esv1758309 1 1588294 1588461 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3827771 S 2 0 1 CDK11B,SLC35E2B HuRef esv6099 1 1605119 1605212 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28540 S 1 1 0 CDK11B,SLC35E2B SJK dgv51n71 1 1605424 1648805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871217,nsv871518 M 6533 0 5 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B SP50523,SP54561,SP54604,SP54725,SP55699 dgv10e1 1 1609516 1720123 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17575,essv1830,essv20259,essv10795,essv11783,essv16833,essv21660,essv11223,essv5454,essv16942,essv4042,essv13898,essv23336,essv20567,essv24958,essv17964,essv21384,essv7086,essv23590 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 dgv52n71 1 1610720 1674332 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870509,nsv871600,nsv870726 M 6533 0 4 CDK11A,CDK11B,MMP23A,NADK,SLC35E2,SLC35E2B SP50832,SP55034,SP56125,SP56248 dgv53n71 1 1615647 1675900 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871220,nsv871658 M 6533 2 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 SP57443,SP80936 nsv871560 1 1617665 1712445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565133,nssv1532352 M 6533 0 2 CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2 IS30369,MS10769 nsv442858 1 1617778 1662463 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 1619478 1674040 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 1622658 1801937 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 1624030 1645651 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 1624860 1670445 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439447 S 31 1 0 CDK11A,CDK11B,SLC35E2 NA18537 nsv822586 1 1625061 1640673 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438578 S 31 1 0 CDK11A,CDK11B NA18973 nsv822697 1 1625065 1657017 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422355 S 31 0 1 CDK11A,CDK11B,SLC35E2 NA18552 nsv871903 1 1626497 1673425 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504455,nssv1504111 M 6533 1 1 CDK11A,CDK11B,NADK,SLC35E2 SP52231,SP52497 nsv871121 1 1626497 1735586 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564211 S 6533 1 0 CDK11A,CDK11B,GNB1,NADK,SLC35E2 IS30180 essv725 1 1636649 1678052 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 1637729 1657017 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431056 S 31 0 1 CDK11A,CDK11B,SLC35E2 AK18 nsv509368 1 1638191 1638191 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 1638486 1638555 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 nsv159838 1 1638886 1638936 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178416 M 24 CDK11A,CDK11B esv988165 1 1638911 1638961 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570116 S 3 0 1 CDK11A,CDK11B HuRef esv1455500 1 1638923 1638974 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050580 S 2 0 1 CDK11A,CDK11B HuRef nsv160496 1 1638954 1639004 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179074 M 24 CDK11A,CDK11B nsv160062 1 1639576 1640537 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178640 M 24 CDK11A,CDK11B esv6106 1 1639919 1640397 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28547 S 1 0 1 CDK11A,CDK11B SJK nsv160158 1 1640463 1640463 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178736 M 24 CDK11A,CDK11B esv1736683 1 1670927 1670927 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785632 S 2 1 0 "" HuRef nsv870637 1 1674332 1708295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509708 S 6533 0 1 GNB1,NADK SP54956 dgv54n71 1 1686519 1706586 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871332,nsv871040 M 6533 0 2 GNB1,NADK SP54043,SP57469 nsv834335 1 1734770 1923265 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 1760874 1767320 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309496 S 1 0 1 GNB1 NA18507 dgv55n71 1 1799950 2041373 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871662,nsv871951 M 6533 0 2 CALML6,GABRD,GNB1,KIAA1751,PRKCZ,TMEM52 IS37172,MS10311 dgv56n71 1 1799950 2281540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870691,nsv871575 M 6533 0 2 C1orf86,CALML6,GABRD,GNB1,KIAA1751,LOC100129534,MORN1,PRKCZ,SKI,TMEM52 MS10769,MS18276 nsv871672 1 1803260 1841994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509709 S 6533 0 1 CALML6,GNB1,TMEM52 SP54956 nsv871204 1 1807989 1833906 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510628 S 6533 0 1 GNB1 SP54988 nsv10272 1 1810314 1813172 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28034,nssv26884,nssv21432,nssv18097,nssv29276,nssv24607,nssv24619,nssv21440,nssv28028,nssv21425,nssv28044,nssv24617,nssv21422,nssv21437,nssv28535,nssv21434,nssv28930 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 nsv870914 1 1833906 1982608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546432 S 6533 0 1 CALML6,GABRD,KIAA1751,PRKCZ,TMEM52 MS17208 nsv10383 1 1836475 1849741 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 esv2587332 1 1850375 1850824 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262341 S 1 1 0 "" NA18507 nsv512709 1 1850584 1850724 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625333 S 1 1 0 "" 1 esv6744 1 1856157 1856942 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29185 S 1 0 1 "" SJK esv5421 1 1856164 1857032 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27862 S 1 0 1 Single Asian sample YH "" YH nsv834446 1 1881903 2077734 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 1889056 1889385 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505691 S 1 0 1 KIAA1751 NA18507 esv25575 1 1900237 1903790 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 esv994854 1 1902795 1903600 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586225 S 3 0 1 KIAA1751 HuRef esv1576320 1 1903185 1903185 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312046 S 2 1 0 KIAA1751 HuRef dgv57n71 1 1906447 2058766 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871003,nsv871212 M 6533 0 2 GABRD,KIAA1751,PRKCZ IS32737,IS33601 esv1718201 1 1915018 1915018 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140788 S 2 1 0 KIAA1751 HuRef dgv58n71 1 1936451 1980874 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871308,nsv870670 M 6533 0 2 GABRD,PRKCZ SP54725,SP54988 nsv871701 1 1938861 2145729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538559 S 6533 0 1 C1orf86,GABRD,PRKCZ MS13770 nsv822920 1 1978127 1980416 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436323 S 31 1 0 PRKCZ NA18542 nsv2520 1 1984593 2010920 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 1993610 2098297 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619762,nssv619761 M 4 1 0 PRKCZ NA10860 nsv871663 1 1995968 2063411 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572607 S 6533 0 1 PRKCZ IS33162 esv1002714 1 2006889 2006889 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575233 S 3 1 0 PRKCZ HuRef esv1162822 1 2007081 2007081 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3941411 S 2 1 0 PRKCZ HuRef nsv3631 1 2012604 2046812 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 2013924 2103425 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 2014403 2017263 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 nsv871399 1 2023116 2272977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546433 S 6533 0 1 C1orf86,LOC100129534,MORN1,PRKCZ,SKI MS17208 esv4759 1 2027516 2028082 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27200 S 1 0 1 Single Asian sample YH PRKCZ YH dgv1e194 1 2027609 2028133 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1927480,esv2345828 M 1 0 1 PRKCZ NA18507 nsv160060 1 2028171 2028171 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178638 M 24 PRKCZ nsv460616 1 2030796 2079386 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537157 S 1557 0 1 PRKCZ NINDS_69 esv2196740 1 2031279 2031631 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845456 S 1 0 1 PRKCZ NA18507 nsv834557 1 2038930 2232403 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445073,nssv1444851,nssv1444962,nssv1445295,nssv1444184,nssv1444628,nssv1444517,nssv1444406,nssv1444739,nssv1445184,nssv1444295 M 95 0 11 C1orf86,PRKCZ,SKI esv2492368 1 2042381 2042872 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343806 S 1 1 0 PRKCZ NA18507 esv26913 1 2042821 2045835 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 2042821 2045905 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420402 S 1 0 1 PRKCZ NA10851 esv2505453 1 2043244 2045972 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233482 S 1 0 1 PRKCZ NA18507 esv4841 1 2043376 2045793 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27282 S 1 0 1 Single Asian sample YH PRKCZ YH esv1008133 1 2043483 2045670 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586410 S 3 1 0 PRKCZ HuRef esv1138741 1 2044405 2044513 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618162 S 2 0 1 PRKCZ HuRef nsv870901 1 2047883 2086498 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519759 S 6533 1 0 PRKCZ SP50544 nsv870615 1 2047883 2163364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573312 S 6533 1 0 C1orf86,PRKCZ,SKI IS33263 dgv59n71 1 2059960 2165898 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871955,nsv870529 M 6533 0 2 C1orf86,PRKCZ,SKI IS33162,SP54956 esv2313378 1 2063576 2063899 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884634 S 1 0 1 PRKCZ NA18507 esv4294 1 2063591 2063822 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26735 S 1 0 1 Single Asian sample YH PRKCZ YH nsv461727 1 2072349 2172330 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538084 S 1557 0 1 C1orf86,PRKCZ,SKI 1780862101_A dgv60n71 1 2086498 2170384 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871059,nsv870713 M 6533 0 3 C1orf86,PRKCZ,SKI IS33239,IS33797,IS39417 dgv61n71 1 2086498 2212443 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871318,nsv871410,nsv871463,nsv871614,nsv871855 M 6533 0 6 C1orf86,PRKCZ,SKI IS31656,IS32888,IS35484,IS41243,IS41634,MS10698 dgv62n71 1 2086498 2300053 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871167,nsv871127,nsv871631,nsv871721,nsv871357,nsv870623,nsv870833 M 6533 0 9 C1orf86,LOC100129534,MORN1,PRKCZ,SKI IS32322,IS32737,IS32841,IS33504,IS33684,IS34005,IS41410,MS10311,MS11306 dgv63n71 1 2108199 2163364 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871884,nsv871247,nsv870629,nsv871163 M 6533 0 4 C1orf86,SKI SP54043,SP54988,SP55019,SP55021 nsv470682 1 2109693 2300053 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547655,nssv547654,nssv547653,nssv547657,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 nsv818111 1 2130121 2146222 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417805 S 112 0 1 "" NA18853 nsv463949 1 2130121 2184977 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539962 S 1557 0 1 SKI 1780862414_A nsv834668 1 2145626 2314237 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447628,nssv1450517,nssv1448072,nssv1447073,nssv1445517,nssv1448961,nssv1450406,nssv1446406,nssv1445739,nssv1450628,nssv1450294,nssv1448406,nssv1448628,nssv1445406,nssv1447517,nssv1446184,nssv1448184,nssv1449072,nssv1449517,nssv1446850,nssv1448850,nssv1448739,nssv1450072,nssv1445962,nssv1446073,nssv1446961,nssv1445628,nssv1447184,nssv1447295,nssv1450183,nssv1447961,nssv1448295,nssv1449406,nssv1447739,nssv1449183,nssv1448517,nssv1446295,nssv1449628,nssv1449739,nssv1449850,nssv1447406,nssv1445850,nssv1447850,nssv1446739,nssv1446628,nssv1449961,nssv1449295,nssv1446517 M 95 0 48 LOC100129534,MORN1,RER1,SKI esv2648351 1 2148325 2150352 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208944 S 1 0 1 SKI NA18507 nsv465060 1 2170384 2210509 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 dgv64n71 1 2172330 2497275 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871321,nsv871383 M 6533 0 2 HES5,LOC100129534,LOC100133445,LOC115110,MORN1,PANK4,PEX10,PLCH2,RER1,SKI,TNFRSF14 IS37646,IS39233 nsv870822 1 2182293 2224492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590915 S 6533 1 0 SKI IS38603 dgv65n71 1 2182293 2279181 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871093,nsv870750,nsv870732,nsv870758,nsv870785,nsv870982 M 6533 0 8 LOC100129534,MORN1,SKI IS31082,IS33162,IS33514,IS34304,IS39417,IS40396,MS11237,MS16153 dgv66n71 1 2184977 2226557 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871845,nsv870836,nsv870681 M 6533 0 4 SKI IS35007,IS38235,IS38293,IS38403 nsv528621 1 2188917 2201709 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705251 S 2026 0 1 SKI nsv870904 1 2192634 2270521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582851 S 6533 1 0 MORN1,SKI IS36183 esv22780 1 2201920 2204035 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 2202020 2202233 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979301 S 2 0 1 SKI HuRef esv1536883 1 2202501 2202588 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775323 S 2 0 1 SKI HuRef esv1025209 1 2202650 2202865 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025462 S 2 0 1 SKI HuRef dgv67n71 1 2202780 2281540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871289,nsv870888,nsv870783,nsv871941,nsv871952,nsv870532,nsv870997 M 6533 0 8 LOC100129534,MORN1,SKI IS30369,IS33239,IS34057,IS37172,IS38538,IS40230,MS10698,MS16315 esv1682069 1 2202878 2203136 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061538 S 2 0 1 SKI HuRef esv1164473 1 2203161 2203247 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589181 S 2 0 1 SKI HuRef nsv870515 1 2214736 2304179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529769 S 6533 0 1 LOC100129534,MORN1,SKI MS10123 nsv823031 1 2224073 2256165 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426364 S 31 1 0 MORN1,SKI AK6 dgv68n71 1 2224492 2281540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871489,nsv871652,nsv870610,nsv870512,nsv871765 M 6533 0 5 LOC100129534,MORN1,SKI IS33601,MS17522,SP54782,SP54956,SP54988 nsv871848 1 2225591 2247587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507391 S 6533 0 1 MORN1,SKI SP54725 nsv4742 1 2226024 2272062 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 nsv871930 1 2226557 2369108 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573519 S 6533 0 1 LOC100129534,MORN1,PEX10,RER1,SKI IS33455 dgv4n67 1 2227388 2231840 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823253,nsv823586,nsv823142,nsv823475 M 31 4 0 SKI AK12,NA18564,NA18951,NA18969 nsv823364 1 2228155 2230862 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437213 S 31 1 0 SKI NA18949 esv2502867 1 2245558 2248109 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196708 S 1 0 1 MORN1 NA18507 nsv870616 1 2253748 2349841 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558400 S 6533 1 0 LOC100129534,MORN1,PEX10,RER1 MS23257 dgv69n71 1 2272977 2436740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870803,nsv870877,nsv871136,nsv871601 M 6533 0 4 LOC100129534,MORN1,PANK4,PEX10,PLCH2,RER1 IS32322,IS33178,IS33684,IS34235 dgv70n71 1 2289511 2322891 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870564,nsv871012,nsv870714 M 6533 0 3 MORN1,RER1 IS34304,IS35484,MS16153 nsv871856 1 2291551 2310562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587768 S 6533 0 1 MORN1 IS38111 dgv71n71 1 2291551 2541760 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871118,nsv871041,nsv870478,nsv870955,nsv871411,nsv870858,nsv871710,nsv871439 M 6533 0 14 C1orf93,HES5,LOC100133445,LOC115110,MMEL1,MORN1,PANK4,PEX10,PLCH2,RER1,TNFRSF14 IS30369,IS31045,IS32737,IS32841,IS34304,IS37985,IS41243,MS10204,MS10311,MS10386,MS10769,MS13770,MS17208,MS18276 dgv72n71 1 2293372 2472781 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870804,nsv871798,nsv871519,nsv871596,nsv870967,nsv871448,nsv870917 M 6533 0 19 HES5,LOC115110,MORN1,PANK4,PEX10,PLCH2,RER1 IS30835,IS33504,IS33601,IS35007,IS35484,IS36910,IS37172,IS37874,IS38176,IS38293,IS38388,IS38403,IS39817,IS40230,IS40368,IS41634,IS41894,MS10698,MS16315 dgv73n71 1 2296832 2380448 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871788,nsv871447 M 6533 0 2 MORN1,PEX10,RER1 IS40396,SP54956 nsv520511 1 2297341 2298942 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697462 S 2026 0 1 MORN1 nsv870492 1 2305577 2340772 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510632 S 6533 0 1 MORN1,PEX10,RER1 SP54988 dgv74n71 1 2309288 2398694 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870488,nsv871103,nsv871412,nsv871333 M 6533 0 8 MORN1,PEX10,PLCH2,RER1 IS31270,IS31766,IS31904,IS33514,IS33630,IS33797,IS39254,IS39258 dgv75n71 1 2309288 2842066 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870697,nsv870587,nsv871682,nsv871309,nsv871214 M 6533 0 5 C1orf93,HES5,LOC100133445,LOC115110,MMEL1,MORN1,PANK4,PEX10,PLCH2,RER1,TNFRSF14,TTC34 IS34005,IS39417,MS10123,MS11579,MS13095 nsv823697 1 2310992 2327218 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426365 S 31 1 0 MORN1,PEX10,RER1 AK6 nsv470684 1 2315869 2837348 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547670,nssv547665,nssv547663,nssv547669,nssv547664,nssv547658,nssv547668,nssv547661,nssv547666,nssv547671,nssv547659,nssv547660,nssv547662 M 443 0 12 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 nsv870567 1 2317675 2369108 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547668 S 6533 0 1 PEX10,RER1 MS17522 dgv76n71 1 2317675 2415852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870989,nsv871515,nsv870848 M 6533 0 6 PEX10,PLCH2,RER1 IS33239,IS33248,IS33665,IS33776,IS41410,MS18848 esv2631918 1 2322112 2323107 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353074 S 1 1 0 RER1 NA18507 dgv1n27 1 2322891 2440254 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467282,nsv466171 M 1557 0 2 PANK4,PEX10,PLCH2,RER1 HGDP00607,HGDP00614 nsv512710 1 2323086 2323243 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625334 S 1 1 0 RER1 1 nsv823808 1 2324440 2325694 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436324 S 31 1 0 RER1 NA18542 dgv77n71 1 2325536 2436740 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871641,nsv871767 M 6533 2 0 PANK4,PEX10,PLCH2,RER1 IS30210,IS31763 dgv78n71 1 2328934 2436740 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv870998,nsv870715,nsv871857 M 6533 7 9 PANK4,PEX10,PLCH2 IS32998,IS33162,IS33175,IS33403,IS33493,IS33543,IS36519,IS37577,IS38262,IS38430,IS40318,MS11237,MS12262,MS13727,MS15835,MS17114 nsv870799 1 2343729 2385312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511305 S 6533 0 1 "" SP55021 dgv79n71 1 2343729 2490499 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870920,nsv871004,nsv871838 M 6533 0 4 HES5,LOC100133445,LOC115110,PANK4,PLCH2,TNFRSF14 IS31656,IS32888,IS40799,SP54988 nsv470685 1 2349841 2440254 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 dgv80n71 1 2351880 2436740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871966,nsv870692,nsv871401 M 6533 0 3 PANK4,PLCH2 IS30197,MS11467,MS11726 nsv871359 1 2359358 2394116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507437 S 6533 0 1 "" SP54725 dgv81n71 1 2359358 2456493 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870948,nsv871068,nsv870865 M 6533 0 3 HES5,PANK4,PLCH2 IS34908,MS12202,SP54782 esv988545 1 2361810 2361879 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577413 S 3 0 1 "" HuRef esv1513739 1 2361857 2361857 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248036 S 2 1 0 "" HuRef nsv871726 1 2362949 2541760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543341 S 6533 0 1 C1orf93,HES5,LOC100133445,LOC115110,MMEL1,PANK4,PLCH2,TNFRSF14 MS16153 dgv11e1 1 2366114 2370109 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8862,esv312 M 271 0 0 "" NA18508 nsv870655 1 2369108 3091213 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533731 S 6533 0 1 ACTRT2,C1orf93,FLJ42875,HES5,LOC100133445,LOC115110,MIR4251,MMEL1,PANK4,PLCH2,PRDM16,TNFRSF14,TTC34 MS11306 esv25748 1 2380073 2381162 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 nsv871912 1 2380448 2470197 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578821 S 6533 1 0 HES5,PANK4,PLCH2 IS34912 esv989190 1 2383548 2383548 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583245 S 3 1 0 "" HuRef esv1307242 1 2383637 2383637 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3609131 S 2 1 0 "" HuRef nsv871255 1 2399136 2480088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584117 S 6533 0 1 HES5,LOC115110,PANK4,PLCH2,TNFRSF14 IS36876 nsv823920 1 2403604 2473701 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440793 S 31 1 0 HES5,LOC115110,PANK4,PLCH2 NA18969 nsv818222 1 2413982 2480088 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417806,nssv1417514 M 112 0 2 HES5,LOC115110,PANK4,PLCH2,TNFRSF14 NA18853,NA18968 nsv7171 1 2433858 2527931 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2141,nssv4052,nssv5821,nssv9849,nssv1153,nssv10864,nssv10880,nssv9802,nssv6533,nssv9287,nssv10990,nssv1241,nssv5743,nssv2047,nssv4140,nssv6621 M 9 0 0 C1orf93,HES5,LOC100133445,LOC115110,MMEL1,PANK4,TNFRSF14 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 dgv82n71 1 2439052 2472781 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871253,nsv870759,nsv870754 M 6533 0 4 HES5,LOC115110,PANK4 SP54043,SP54725,SP54956,SP55021 nsv824031 1 2442099 2472957 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426366 S 31 1 0 HES5,LOC115110,PANK4 AK6 dgv83n71 1 2442429 2456493 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871366,nsv871072 M 6533 0 5 HES5,PANK4 SP54345,SP54591,SP54657,SP54750,SP55019 esv2583485 1 2443495 2444308 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387623 S 1 1 0 PANK4 NA18507 esv1165961 1 2444115 2444115 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796592 S 2 1 0 PANK4 HuRef dgv84n71 1 2445360 2456493 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871949,nsv871346,nsv870645 M 6533 0 5 HES5,PANK4 SP51109,SP54593,SP54967,SP54979,SP81010 nsv1 1 2446450 2478865 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv1 S 1 0 0 HES5,LOC115110,PANK4 NA15510 esv996586 1 2471782 2490872 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564272 S 3 0 0 LOC100133445,LOC115110,TNFRSF14 HuRef dgv1n50 1 2472748 2489106 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513632,nsv513633 M 1 0 0 LOC100133445,LOC115110,TNFRSF14 1 esv2471749 1 2473764 2490238 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165573 S 1 0 0 LOC100133445,LOC115110,TNFRSF14 NA18507 dgv1n47 1 2474521 2489757 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499113,nsv499569,nsv499637 M 9 0 0 LOC100133445,TNFRSF14 esv1699286 1 2475133 2489144 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4270452 S 2 0 0 LOC100133445,TNFRSF14 HuRef dgv5n67 1 2476434 2478083 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824253,nsv824142 M 31 0 2 "" AK20,NA18972 nsv436691 1 2477117 2490251 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 nsv829648 1 2477440 2562200 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450739 S 95 0 1 C1orf93,LOC100133445,MMEL1,TNFRSF14 nsv871833 1 2480088 2689509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597588 S 6533 0 1 C1orf93,LOC100133445,MMEL1,TNFRSF14,TTC34 IS41317 nsv824364 1 2480304 2481406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434859 S 31 0 1 TNFRSF14 NA18942 nsv824475 1 2480963 2481406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431952 S 31 0 1 TNFRSF14 NA18972 nsv870979 1 2503076 2534500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510634 S 6533 0 1 C1orf93,MMEL1 SP54988 dgv85n71 1 2503076 2768903 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871287,nsv870971,nsv870953,nsv871821,nsv870671,nsv871944 M 6533 0 9 C1orf93,MMEL1,TTC34 IS32888,IS32918,IS33504,IS36876,IS38144,IS38176,MS10386,MS11237,MS13727 nsv428399 1 2543838 3142350 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 esv21805 1 2555784 2624042 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 23 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 2555862 2556342 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626021 S 1 0 1 "" 1 esv1931226 1 2555889 2556583 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612274 S 1 0 1 "" NA18507 esv1624207 1 2556377 2556377 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164733 S 2 1 0 "" HuRef esv994553 1 2562327 2573939 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565426 S 3 1 0 TTC34 HuRef nsv824586 1 2570328 2573301 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438579 S 31 1 0 TTC34 NA18973 nsv161117 1 2572889 2573455 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179695 M 24 TTC34 dgv1n6 1 2573419 2580949 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv160392,nsv160178 M 24 TTC34 esv1381913 1 2573430 2573430 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214883 S 2 1 0 TTC34 HuRef nsv820462 1 2573460 2624042 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420513 S 1 1 0 TTC34 NA10851 nsv160953 1 2573560 2574160 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179531 M 24 TTC34 nsv160689 1 2573792 2574393 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179267 M 24 TTC34 esv999533 1 2574087 2574929 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568762 S 3 0 1 TTC34 HuRef dgv86n71 1 2574398 2909010 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871729,nsv870893 M 6533 0 3 TTC34 IS34304,MS10769,MS16315 nsv159794 1 2574506 2576192 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178372 M 24 TTC34 nsv159997 1 2574735 2574895 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178575 M 24 TTC34 nsv160053 1 2575167 2575167 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178631 M 24 TTC34 esv8624 1 2575936 2619046 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31065 S 1 0 1 TTC34 SJK esv1995006 1 2577543 2599245 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845344 S 1 0 1 TTC34 NA18507 esv999575 1 2577640 2610115 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575600 S 3 0 1 TTC34 HuRef nsv5853 1 2579130 2604293 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5901,nssv9998 M 9 2 0 TTC34 NA18956,NA19129 esv1159004 1 2583107 2583107 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785302 S 2 1 0 TTC34 HuRef esv1780740 1 2583565 2583646 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117042 S 2 0 1 TTC34 HuRef esv1286791 1 2583736 2583816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745617 S 2 0 1 TTC34 HuRef esv1001627 1 2583755 2584637 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584427 S 3 0 1 TTC34 HuRef esv1366162 1 2585273 2585353 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788684 S 2 0 1 TTC34 HuRef esv1701153 1 2585378 2585617 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138724 S 2 0 1 TTC34 HuRef esv990905 1 2586613 2596446 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573398 S 3 0 1 TTC34 HuRef esv1348726 1 2586686 2586686 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133439 S 2 1 0 TTC34 HuRef esv992616 1 2586821 2591234 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581681 S 3 0 1 TTC34 HuRef esv1068112 1 2587408 2587408 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882975 S 2 1 0 TTC34 HuRef esv1134902 1 2588279 2588359 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644540 S 2 0 1 TTC34 HuRef esv1460747 1 2589318 2589438 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860280 S 2 0 1 TTC34 HuRef esv1312498 1 2590097 2590337 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349278 S 2 0 1 TTC34 HuRef esv997173 1 2591229 2591790 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566822 S 3 0 1 TTC34 HuRef esv1162144 1 2592696 2593218 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966245 S 2 0 1 TTC34 HuRef esv1394797 1 2594300 2594381 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279125 S 2 0 1 TTC34 HuRef nsv160294 1 2594341 2598916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178872 M 24 TTC34 esv1779754 1 2595041 2595041 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803937 S 2 1 0 TTC34 HuRef esv993173 1 2599619 2600180 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584575 S 3 0 1 TTC34 HuRef nsv159383 1 2600428 2606129 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177961 M 24 TTC34 esv989273 1 2601373 2604262 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575900 S 3 0 1 TTC34 HuRef esv6961 1 2605829 2618891 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29402 S 1 0 1 TTC34 SJK nsv159584 1 2606315 2606675 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178162 M 24 TTC34 nsv6964 1 2606625 2608044 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 2607837 2613499 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179455 M 24 TTC34 nsv7534 1 2608380 2611159 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 nsv160247 1 2610167 2612535 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178825 M 24 TTC34 nsv160029 1 2612675 2618697 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178607 M 24 TTC34 nsv160879 1 2612977 2615742 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179457 M 24 TTC34 nsv159137 1 2613123 2613243 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177715 M 24 TTC34 nsv160272 1 2613789 2622864 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178850 M 24 TTC34 nsv160341 1 2616150 2617033 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178919 M 24 TTC34 esv6481 1 2619841 2620149 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28922 S 1 0 1 TTC34 SJK esv1095177 1 2622421 2622421 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698632 S 2 1 0 TTC34 HuRef nsv160000 1 2622651 2622850 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178578 M 24 TTC34 nsv159461 1 2623124 2623966 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178039 M 24 TTC34 esv23086 1 2674115 2684820 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 2674115 2684900 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420624 S 1 1 0 TTC34 NA10851 esv1006680 1 2679384 2679543 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585900 S 3 0 1 TTC34 HuRef esv1125194 1 2679971 2680937 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352306 S 2 0 1 TTC34 HuRef nsv871110 1 2690232 2787716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585775 S 6533 0 1 TTC34 IS37646 nsv871406 1 2703187 2842567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580801 S 6533 0 1 "" IS35484 nsv469835 1 2730561 2912411 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649856 M 265 0 1 Samples from several populations that are part of the HapMap project. "" nsv870889 1 2744372 2995991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538561 S 6533 0 1 ACTRT2,FLJ42875,PRDM16 MS13770 dgv87n71 1 2744372 3220404 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871468,nsv871921 M 6533 0 2 ACTRT2,FLJ42875,MIR4251,PRDM16 MS10311,MS17208 esv2455629 1 2755817 2756685 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201421 S 1 1 0 "" NA18507 esv1778376 1 2755889 2755889 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921204 S 2 1 0 "" HuRef esv2606115 1 2758147 2759611 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324371 S 1 0 1 "" NA18507 esv1145877 1 2758505 2758505 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076825 S 2 1 0 "" HuRef nsv455662 1 2759402 2819411 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 2762644 2765985 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564145 S 3 1 0 "" HuRef nsv870507 1 2768903 2832130 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530404 S 6533 0 1 "" MS10311 nsv521946 1 2776953 2778968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694715 S 2026 0 1 "" nsv871556 1 2776953 2873718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509714 S 6533 0 1 "" SP54956 dgv88n71 1 2778968 2849584 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870985,nsv870651,nsv871834 M 6533 0 6 "" IS33684,IS39258,MS11579,MS12262,MS13727,MS15835 nsv870499 1 2819411 2891988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572107 S 6533 0 1 "" IS32888 nsv871683 1 2825552 2995991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543342 S 6533 0 1 ACTRT2,FLJ42875,PRDM16 MS16153 nsv159525 1 2827696 2827763 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178103 M 24 "" esv1009726 1 2855998 2856144 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577776 S 3 0 1 "" HuRef esv1533261 1 2856232 2856379 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287368 S 2 0 1 "" HuRef esv2132425 1 2866308 2866755 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889243 S 1 0 1 "" NA18507 esv3109 1 2866419 2866691 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25550 S 1 0 1 Single Asian sample YH "" YH esv993932 1 2866454 2866573 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566726 S 3 0 1 "" HuRef esv1703346 1 2866461 2866581 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656039 S 2 0 1 "" HuRef nsv871484 1 2869500 2909010 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544213,nssv1576876 M 6533 0 2 "" IS34304,MS16315 nsv870611 1 2869500 2927172 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584760 S 6533 0 1 "" IS37172 dgv89n71 1 2869500 3010106 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871673,nsv870537,nsv870817 M 6533 0 4 ACTRT2,FLJ42875,PRDM16 IS33504,IS34235,IS37646,MS10123 nsv871581 1 2869500 3636151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549598 S 6533 0 1 ACTRT2,ARHGEF16,FLJ42875,MEGF6,MIR4251,MIR551A,PRDM16,TP73,TPRG1L,WRAP73 MS18276 nsv470686 1 2879437 2973947 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 esv25503 1 2882654 2884779 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 dgv90n71 1 2886595 2934387 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871584,nsv871869 M 6533 0 2 ACTRT2 IS35484,IS39233 esv7294 1 2901349 2901716 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29735 S 1 0 1 "" SJK esv4855 1 2901350 2901794 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27296 S 1 0 1 Single Asian sample YH "" YH nsv829759 1 2913009 3000997 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450961,nssv1450850 M 95 0 2 ACTRT2,FLJ42875,PRDM16 dgv91n71 1 2918281 2995991 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871476,nsv871962 M 6533 0 2 ACTRT2,FLJ42875,PRDM16 IS34304,IS40799 esv1972331 1 2922693 2923095 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751842 S 1 0 1 "" NA18507 esv2494725 1 2931995 2932984 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336919 S 1 1 0 "" NA18507 nsv871668 1 2941694 3010106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509715 S 6533 0 1 FLJ42875,PRDM16 SP54956 nsv160478 1 2949127 2949127 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179056 M 24 "" nsv871200 1 2964712 3037112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574982 S 6533 0 1 FLJ42875,MIR4251,PRDM16 IS33684 nsv824697 1 2965717 2984572 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426367 S 31 1 0 FLJ42875,PRDM16 AK6 dgv92n71 1 3037112 3199783 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871419,nsv871104 M 6533 0 2 PRDM16 MS10123,MS16153 nsv871578 1 3047521 3121095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544214 S 6533 0 1 PRDM16 MS16315 nsv457884 1 3052221 3094490 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 nsv871691 1 3070715 3121095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592086 S 6533 0 1 PRDM16 IS39233 esv22935 1 3071567 3072666 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 nsv458995 1 3073572 3103540 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 esv25107 1 3073812 3074747 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 esv1279453 1 3074394 3074630 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971964 S 2 0 1 PRDM16 HuRef esv1001450 1 3087258 3088463 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586288 S 3 0 1 PRDM16 HuRef esv26942 1 3087323 3088663 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 esv2447933 1 3087770 3087831 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170486 S 1 0 1 PRDM16 NA18507 nsv160334 1 3087875 3087875 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178912 M 24 PRDM16 nsv871860 1 3091213 3152069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585777 S 6533 0 1 PRDM16 IS37646 nsv829870 1 3116665 3245948 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451072,nssv1451183,nssv1451405,nssv1451294 M 95 0 4 PRDM16 esv272780 1 3120199 3120284 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 nsv870780 1 3130324 3198235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573729 S 6533 0 1 PRDM16 IS33504 nsv527875 1 3134605 3198690 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704374 S 2026 0 1 PRDM16 nsv829981 1 3142452 3323676 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441607,nssv1441530,nssv1441641,nssv1441519,nssv1441618,nssv1441563,nssv1441652,nssv1441663,nssv1441574,nssv1441541,nssv1441630,nssv1441585,nssv1441674,nssv1441685,nssv1441596,nssv1441552 M 95 0 16 PRDM16 nsv870698 1 3152069 3194003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580803 S 6533 0 1 PRDM16 IS35484 esv2639320 1 3166925 3167569 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229663 S 1 1 0 PRDM16 NA18507 nsv870992 1 3167971 3225901 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532356 S 6533 0 1 PRDM16 MS10769 dgv93n71 1 3171275 3200810 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871315,nsv871128,nsv871225 M 6533 0 4 PRDM16 IS32322,IS33684,IS34304,MS16315 dgv94n71 1 3174715 3248973 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871593,nsv871677 M 6533 0 2 PRDM16 IS39233,MS11306 nsv871025 1 3187607 3199783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578969 S 6533 0 1 PRDM16 IS35007 dgv6n67 1 3199718 3201188 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824808,nsv824919 M 31 0 2 PRDM16 AK14,NA18552 nsv7645 1 3203967 3239047 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 3204425 3204425 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179608 M 24 PRDM16 esv2582992 1 3205073 3207155 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311128 S 1 0 1 PRDM16 NA18507 esv2000244 1 3205391 3206316 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511826 S 1 0 1 PRDM16 NA18507 nsv511673 1 3205467 3207548 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626311 S 1 0 1 PRDM16 1 esv1917341 1 3205479 3206076 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748244 S 1 0 1 PRDM16 NA18507 esv22281 1 3205520 3206970 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 nsv830092 1 3207806 3373233 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441785,nssv1441696,nssv1441818,nssv1441718,nssv1441729,nssv1441707,nssv1441741,nssv1441796,nssv1441829,nssv1441752,nssv1441840,nssv1441763,nssv1441807,nssv1441774 M 95 1 13 ARHGEF16,PRDM16 nsv522146 1 3217048 3218775 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694919 S 2026 0 1 PRDM16 dgv95n71 1 3217048 3548088 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870630,nsv871552 M 6533 0 2 ARHGEF16,MEGF6,MIR551A,PRDM16,TPRG1L,WRAP73 IS31045,MS11237 esv998521 1 3232455 3232513 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584219 S 3 0 1 PRDM16 HuRef esv1330141 1 3232469 3232528 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645168 S 2 0 1 PRDM16 HuRef nsv526836 1 3248973 3249043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703193 S 2026 0 1 PRDM16 nsv870990 1 3249229 3273388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530406 S 6533 0 1 PRDM16 MS10311 dgv96n71 1 3249229 3743673 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870694,nsv870633 M 6533 0 2 ARHGEF16,CCDC27,CEP104,LOC388588,LRRC47,MEGF6,MIR551A,PRDM16,TP73,TP73-AS1,TPRG1L,WRAP73 MS16153,MS17208 nsv871228 1 3259688 3339373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572108 S 6533 0 1 PRDM16 IS32888 dgv97n71 1 3259688 3454311 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871407,nsv870933,nsv871718 M 6533 0 3 ARHGEF16,MEGF6,PRDM16 IS37646,IS38176,MS13727 nsv470687 1 3262923 3669634 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547683,nssv547684,nssv547677,nssv547686,nssv547680,nssv547674,nssv547679,nssv547681,nssv547685,nssv547682,nssv547675,nssv547676 M 443 0 8 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 dgv12e1 1 3278798 3538713 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 3279589 3290990 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 dgv98n71 1 3279831 3346265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871241,nsv871322,nsv871347,nsv871692,nsv871159 M 6533 0 9 PRDM16 IS32841,IS33178,IS33601,IS33684,IS33797,IS39233,IS40230,MS13095,MS16315 dgv99n71 1 3279831 3701549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871793,nsv871020,nsv871038,nsv870744,nsv871608,nsv871154 M 6533 0 6 ARHGEF16,CCDC27,LOC388588,LRRC47,MEGF6,MIR551A,PRDM16,TP73,TP73-AS1,TPRG1L,WRAP73 IS33684,IS35484,IS39233,MS10123,MS10311,MS13770 nsv522900 1 3283525 3284832 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698558 S 2026 0 1 PRDM16 dgv100n71 1 3287498 3330715 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871231,nsv871367,nsv871054,nsv870935 M 6533 0 4 PRDM16 IS32322,IS34304,SP54956,SP54988 nsv524467 1 3297894 3298358 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700403 S 2026 0 1 PRDM16 dgv1n21 1 3297894 3304456 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521921,nsv527139 M 2026 2 0 PRDM16 dgv101n71 1 3308392 3431124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870718,nsv870839 M 6533 0 2 ARHGEF16,MEGF6,PRDM16 IS40396,IS41634 esv1000452 1 3324255 3329826 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565499 S 3 0 1 PRDM16 HuRef esv4712 1 3339813 3340125 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27153 S 1 0 1 Single Asian sample YH PRDM16 YH dgv102n71 1 3349547 3462788 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870845,nsv870661,nsv870638,nsv870940,nsv870682,nsv871705,nsv871422,nsv871384 M 6533 0 13 ARHGEF16,MEGF6 IS30369,IS32737,IS33162,IS33248,IS33504,IS34005,IS35007,IS37172,IS39417,IS40230,IS40799,IS41410,IS41894 nsv871243 1 3352116 3413327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574873,nssv1547669 M 6533 0 2 ARHGEF16,MEGF6 IS33665,MS17522 nsv871334 1 3352116 3431124 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580239,nssv1589911,nssv1572109,nssv1589730,nssv1591438 M 6533 1 4 ARHGEF16,MEGF6 IS32888,IS35245,IS38403,IS38430,IS38840 dgv103n71 1 3352116 3582296 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870571,nsv870882 M 6533 0 3 ARHGEF16,MEGF6,MIR551A,TP73,TPRG1L,WRAP73 MS11306,MS13095,MS16315 nsv830203 1 3352798 3514176 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441852,nssv1441863 M 95 0 2 ARHGEF16,MEGF6,MIR551A nsv160351 1 3356879 3356879 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178929 M 24 "" dgv104n71 1 3358003 3431124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870760,nsv871336,nsv871042,nsv871094 M 6533 0 11 ARHGEF16,MEGF6 IS33601,IS34057,IS36876,IS37577,IS37874,IS39258,IS39817,IS41648,MS10126,MS11669,MS12202 dgv105n71 1 3371558 3521455 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871380,nsv870733 M 6533 0 2 ARHGEF16,MEGF6,MIR551A MS10769,MS11579 esv1571906 1 3381505 3381565 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030830 S 2 0 1 ARHGEF16 HuRef nsv299 1 3383352 3419129 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9111,nssv4678,nssv4519 M 9 3 0 ARHGEF16,MEGF6 NA12156,NA12878,NA19129 dgv7n67 1 3390933 3395522 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825031,nsv825364,nsv825142 M 31 3 0 MEGF6 NA18542,NA18951,NA18973 nsv825253 1 3390933 3395784 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434860 S 31 0 1 MEGF6 NA18942 dgv106n71 1 3395156 3454311 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871122,nsv871229,nsv870890 M 6533 0 3 MEGF6 IS32841,IS37985,MS19630 esv1595391 1 3408473 3408473 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895480 S 2 1 0 MEGF6 HuRef nsv818333 1 3431124 3446731 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417807 S 112 0 1 MEGF6 NA18853 nsv10494 1 3435994 3441816 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21444,nssv21442 M 31 0 2 Samples from several populations that are part of the HapMap project. MEGF6 NA18942,NA18975 nsv519082 1 3445617 3446452 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696553 S 2026 1 0 MEGF6 nsv870784 1 3470009 3489106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500373 S 6533 0 1 MEGF6 SP50159 dgv107n71 1 3470009 3510731 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871341,nsv871568 M 6533 0 2 MEGF6 IS35007,MS10698 dgv108n71 1 3470009 3536795 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870915,nsv870599 M 6533 0 3 MEGF6,TPRG1L IS32918,IS33162,IS40799 nsv871823 1 3470009 3548088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564278 S 6533 0 1 MEGF6,TPRG1L,WRAP73 IS30197 nsv871942 1 3470009 3722567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573731 S 6533 0 1 CCDC27,CEP104,LOC388588,LRRC47,MEGF6,TP73,TP73-AS1,TPRG1L,WRAP73 IS33504 nsv870516 1 3472448 3521455 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564417 S 6533 1 0 MEGF6 IS30210 nsv818444 1 3476986 3500493 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417551 S 112 0 1 MEGF6 NA18971 dgv109n71 1 3476986 3562634 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871408,nsv871615,nsv871674,nsv870834,nsv871297,nsv871086 M 6533 0 8 MEGF6,TP73,TPRG1L,WRAP73 IS32737,IS33665,IS34908,IS39258,IS40502,IS41243,IS41410,SP54988 dgv110n71 1 3476986 3652705 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871095,nsv871397,nsv870800 M 6533 0 6 MEGF6,TP73,TP73-AS1,TPRG1L,WRAP73 IS32322,IS32841,IS32888,IS33455,IS34304,IS37646 esv1003247 1 3485168 3485168 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570647 S 3 1 0 MEGF6 HuRef esv1491138 1 3485189 3485189 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621012 S 2 1 0 MEGF6 HuRef esv2470115 1 3489252 3492632 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366115 S 1 0 1 MEGF6 NA18507 esv28730 1 3489592 3490491 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 esv1062679 1 3489887 3489959 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165604 S 2 0 1 MEGF6 HuRef esv1072885 1 3494306 3494306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183764 S 2 1 0 MEGF6 HuRef nsv160325 1 3494307 3494307 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178903 M 24 MEGF6 nsv160986 1 3498049 3498114 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179564 M 24 MEGF6 nsv160621 1 3498071 3498136 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179199 M 24 MEGF6 esv1645766 1 3498280 3498346 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161797 S 2 0 1 MEGF6 HuRef dgv111n71 1 3501155 3627319 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870588,nsv870737 M 6533 0 2 MEGF6,TP73,TPRG1L,WRAP73 IS34235,IS40230 dgv112n71 1 3502660 3582296 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871461,nsv871548 M 6533 0 3 MEGF6,TP73,TPRG1L,WRAP73 IS34407,IS38176,MS11726 nsv870859 1 3530234 3562634 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509717 S 6533 0 1 TP73,TPRG1L,WRAP73 SP54956 nsv410 1 3541511 3573504 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 esv2247294 1 3546704 3547177 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665883 S 1 0 1 WRAP73 NA18507 esv2489412 1 3549596 3551258 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381740 S 1 0 1 WRAP73 NA18507 esv29463 1 3550105 3550815 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 3550307 3550816 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571323 S 3 0 1 WRAP73 HuRef nsv830314 1 3567200 3710699 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441974,nssv1441951,nssv1441963,nssv1441985,nssv1441907,nssv1441940,nssv1441874,nssv1441929,nssv1441896,nssv1441885,nssv1441918,nssv1441996 M 95 1 11 CCDC27,LOC388588,LRRC47,TP73,TP73-AS1 dgv13e1 1 3574901 3645396 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1254,essv20812 M 271 0 0 TP73,TP73-AS1 NA10855 dgv113n71 1 3582296 3652705 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870960,nsv870551,nsv870500 M 6533 0 4 TP73,TP73-AS1 IS30197,IS32737,IS37985,IS38388 nsv460061 1 3586877 3661651 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 nsv870977 1 3586877 3685860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533520 S 6533 0 1 CCDC27,LOC388588,TP73,TP73-AS1 MS11237 esv1394802 1 3600206 3600206 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024850 S 2 1 0 TP73 HuRef esv1032022 1 3600542 3600542 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640841 S 2 1 0 TP73 HuRef esv1115862 1 3600687 3600687 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358577 S 2 1 0 TP73 HuRef esv1634361 1 3600759 3601179 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887450 S 2 0 1 TP73 HuRef nsv871368 1 3606461 3652705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574105 S 6533 0 1 TP73,TP73-AS1 IS33514 nsv871021 1 3620336 3643286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500428 S 6533 0 1 TP73,TP73-AS1 SP50159 esv994567 1 3641983 3645230 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565096 S 3 0 1 TP73,TP73-AS1 HuRef nsv830425 1 3647313 3748249 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 nsv871323 1 3647619 3777609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530408 S 6533 0 1 CCDC27,CEP104,DFFB,LOC388588,LRRC47,TP73-AS1 MS10311 dgv114n71 1 3674045 3743673 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871435,nsv871693 M 6533 0 2 CCDC27,CEP104,LOC388588,LRRC47 MS10769,MS21402 esv1678500 1 3704149 3704149 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118454 S 2 1 0 "" HuRef esv1763700 1 3706801 3706951 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015442 S 2 0 1 "" HuRef nsv509590 1 3732881 3808916 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 3738731 3739075 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952306 S 1 0 1 CEP104 NA18507 esv1074506 1 3738857 3738857 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942170 S 2 1 0 CEP104 HuRef nsv159844 1 3749765 3751122 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178422 M 24 CEP104 esv1467252 1 3775096 3775096 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229403 S 2 1 0 DFFB HuRef esv1008825 1 3780687 3780843 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580646 S 3 0 1 DFFB HuRef esv1273516 1 3780687 3780844 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131794 S 2 0 1 DFFB HuRef esv992605 1 3780687 3780921 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585949 S 3 0 1 DFFB HuRef esv26417 1 3798297 3799062 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 3798844 3798936 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067715 S 2 0 1 C1orf174 HuRef nsv460172 1 3913951 3980640 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 nsv871603 1 3915242 3989473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543345 S 6533 0 1 "" MS16153 nsv870560 1 3916997 4028383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546437 S 6533 0 1 "" MS17208 nsv521 1 3943724 3947893 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 3944616 3945124 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11152 S 451 0 1 "" NA18916 esv1003004 1 3959687 3959804 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578431 S 3 0 1 "" HuRef esv1647727 1 3959695 3959813 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880229 S 2 0 1 "" HuRef nsv159163 1 3959696 3959813 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177741 M 24 "" nsv870482 1 4011047 4113891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522410 S 6533 0 1 "" SP53023 dgv115n71 1 4011047 4212065 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870878,nsv870662,nsv871931,nsv871031 M 6533 0 8 "" SP50822,SP52562,SP54050,SP54072,SP54845,SP55265,SP57243,SP81203 nsv460283 1 4017414 4199587 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 4020171 4022959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697551 S 2026 0 1 "" esv21720 1 4023703 4027828 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 esv5203 1 4024404 4024858 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27644 S 1 0 1 Single Asian sample YH "" YH nsv511674 1 4025102 4025799 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626312 S 1 0 1 "" 1 esv1280652 1 4025195 4025292 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810874 S 2 0 1 "" HuRef esv5764 1 4026050 4026650 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28205 S 1 0 1 "" SJK esv23365 1 4036853 4038828 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 4037161 4037566 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578155 S 3 0 1 "" HuRef esv1100125 1 4037241 4037647 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668289 S 2 0 1 "" HuRef nsv821406 1 4037678 4038778 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420735 S 1 1 0 "" NA10851 esv1767486 1 4038421 4038421 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227901 S 2 1 0 "" HuRef nsv509701 1 4042750 4119760 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 esv2637444 1 4054369 4055994 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194644 S 1 0 1 "" NA18507 esv2259067 1 4054830 4055525 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563770 S 1 0 1 "" NA18507 esv3887 1 4054909 4055444 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26328 S 1 0 1 Single Asian sample YH "" YH esv7346 1 4055023 4055323 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29787 S 1 0 1 "" SJK esv1112137 1 4096657 4096657 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248978 S 2 1 0 "" HuRef esv7714 1 4104361 4104429 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30155 S 1 1 0 "" SJK esv2619231 1 4104535 4104584 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231288 S 1 0 1 "" NA18507 nsv527177 1 4116722 4126954 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703573 S 2026 0 1 "" nsv871697 1 4127324 4200666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522411 S 6533 0 1 "" SP53023 nsv830536 1 4139870 4285041 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442018 S 95 1 0 "" nsv871218 1 4163857 4208143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517006 S 6533 0 1 "" SP57027 nsv830647 1 4177167 4347440 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442029 S 95 1 0 "" esv25427 1 4184495 4185865 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14207 S 451 0 1 "" NA19240 esv272116 1 4188287 4188632 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511379,essv2499471,essv2512478,essv2510776,essv2504302,essv2493758,essv2498493,essv2507275,essv2507417,essv2506563,essv2509525,essv2497030,essv2512043,essv2501977,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 4188288 4188633 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584271,essv2584599,essv2583870 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv871137 1 4243808 4622906 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554375 S 6533 1 0 AJAP1,LOC284661 MS20753 nsv159648 1 4262904 4262904 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178226 M 24 "" esv28339 1 4291441 4304135 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 4292371 4295672 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626587 S 1 0 1 "" 1 esv2505018 1 4296153 4296861 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228093 S 1 1 0 "" NA18507 esv1619694 1 4296448 4296448 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918928 S 2 1 0 "" HuRef esv275066 1 4320920 4323975 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585519 S 1250 0 1 "" nsv830759 1 4347441 4569221 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442051,nssv1442040 M 95 0 2 LOC284661 esv2213507 1 4380017 4380434 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764956 S 1 0 1 LOC284661 NA18507 esv1543124 1 4380214 4380276 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354508 S 2 0 1 LOC284661 HuRef esv274284 1 4431874 4432099 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 nsv460394 1 4473849 4491976 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 nsv871602 1 4478355 4568530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558401 S 6533 1 0 "" MS23257 esv1006796 1 4495890 4501949 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586737 S 3 0 1 "" HuRef esv21437 1 4497777 4503228 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 4503150 4504226 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375102 S 1 1 0 "" NA18507 esv995887 1 4503622 4503622 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569284 S 3 1 0 "" HuRef esv1262838 1 4503642 4503642 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924372 S 2 1 0 "" HuRef nsv871520 1 4573797 4617251 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543346 S 6533 0 1 AJAP1 MS16153 esv2398993 1 4576173 4576682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895725 S 1 0 1 "" NA18507 nsv825475 1 4612979 4617295 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433404 S 31 1 0 AJAP1 NA18526 nsv871046 1 4634374 4663261 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505399 S 6533 0 1 AJAP1 SP53458 esv1009421 1 4634634 4637986 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565733 S 3 0 1 AJAP1 HuRef nsv460505 1 4637391 4653917 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537066 S 1557 0 1 AJAP1 1780862093_A nsv520031 1 4647597 4650890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701964,nssv660165,nssv683157 M 2026 0 3 AJAP1 nsv521535 1 4647597 4672577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694458 S 2026 0 1 AJAP1 nsv460617 1 4650890 4686979 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537158 S 1557 0 1 AJAP1 NINDS_66 nsv830870 1 4695246 4881159 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 4700006 4701050 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191133 S 1 1 0 AJAP1 NA18507 nsv830981 1 4722125 4898111 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442074 S 95 1 0 AJAP1 nsv870493 1 4761020 4794660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533734 S 6533 0 1 "" MS11306 nsv521327 1 4772431 4774365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697933 S 2026 0 1 "" nsv632 1 4809273 4813432 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2960 S 9 1 0 "" NA18555 nsv521101 1 4931239 4954210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687649,nssv682279 M 2026 0 2 "" esv2483299 1 4953212 4954328 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225073 S 1 0 1 "" NA18507 nsv525603 1 4968070 4968815 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701747 S 2026 0 1 "" esv271127 1 4989857 4990019 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 dgv116n71 1 5003897 5081475 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870687,nsv870969 M 6533 4 0 "" IS33850,MS20009,MS21515,SP56248 nsv523740 1 5013771 5070572 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699556 S 2026 1 0 "" nsv460839 1 5013771 5073664 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 5027130 5068705 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101012 S 51 0 1 "" 21693 esv1109223 1 5035641 5035641 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4201133 S 2 1 0 "" HuRef nsv520723 1 5051105 5064284 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697576 S 2026 1 0 "" esv2532762 1 5071907 5072624 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197882 S 1 1 0 "" NA18507 esv1289856 1 5072350 5072350 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3630167 S 2 1 0 "" HuRef esv2464561 1 5080714 5080790 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250667 S 1 0 1 "" NA18507 esv27138 1 5096531 5097274 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 5120011 5120756 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290540 S 1 1 0 "" NA18507 esv2918 1 5120121 5120467 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25359 S 1 0 1 Single Asian sample YH "" YH nsv521242 1 5183802 5186968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697864 S 2026 0 1 "" dgv14e1 1 5189627 5459265 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2534,esv329 M 271 0 0 "" NA19003 nsv870776 1 5198919 5220394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540994 S 6533 0 1 "" MS15145 esv1963263 1 5205884 5206310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703012 S 1 0 1 "" NA18507 nsv460950 1 5230617 5248130 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 esv34107 1 5267544 5414367 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 "" nsv10605 1 5293450 5294873 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28532,nssv29260,nssv21430,nssv24593 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA12802,NA18504 esv2259894 1 5396616 5397044 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831068 S 1 0 1 "" NA18507 nsv160607 1 5396755 5396828 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179185 M 24 "" esv1028089 1 5396817 5396892 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224996 S 2 0 1 "" HuRef nsv10716 1 5397617 5399397 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 5415955 5566331 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442085 S 95 1 0 MIR4417 esv2607553 1 5482096 5482197 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236789 S 1 0 1 "" NA18507 nsv527712 1 5546270 5548153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704192 S 2026 0 1 MIR4417 dgv2n21 1 5547116 5548153 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519513,nsv526005 M 2026 0 4 "" nsv871264 1 5550499 5566345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503204 S 6533 0 1 "" SP52003 esv1008325 1 5575936 5575936 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577403 S 3 1 0 "" HuRef esv1402936 1 5575937 5575937 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729262 S 2 1 0 "" HuRef esv2165265 1 5585810 5586177 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4655011 S 1 0 1 "" NA18507 esv2622825 1 5586421 5586481 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341576 S 1 0 1 "" NA18507 esv2474640 1 5654415 5657276 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304912 S 1 1 0 "" NA18507 nsv871747 1 5671670 5745956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537045 S 6533 0 1 "" MS13095 nsv523099 1 5681359 5687940 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698792 S 2026 1 0 "" nsv521706 1 5713085 5713242 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698329 S 2026 1 0 "" esv2165525 1 5726629 5727090 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933008 S 1 0 1 "" NA18507 nsv470688 1 5733711 5836208 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 nsv508723 1 5759862 5954595 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623770,nssv619765,nssv619764 M 4 2 0 MIR4689,NPHP4 NA10860,NA18994 esv2444036 1 5785240 5785988 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245268 S 1 1 0 "" NA18507 esv2487333 1 5791947 5792087 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391968 S 1 0 1 "" NA18507 esv28776 1 5799180 5800681 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 nsv871294 1 5809727 5867308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549599,nssv1538563 M 6533 0 2 MIR4689,NPHP4 MS13770,MS18276 nsv831203 1 5812677 5950549 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442118,nssv1442096,nssv1442107 M 95 0 3 MIR4689,NPHP4 esv2494780 1 5814791 5815226 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176671 S 1 1 0 "" NA18507 nsv512712 1 5814902 5815025 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625336 S 1 1 0 "" 1 esv1660216 1 5814954 5814954 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159802 S 2 1 0 "" HuRef nsv871389 1 5825820 5856823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597260 S 6533 0 1 MIR4689,NPHP4 IS40799 nsv518390 1 5828924 5836208 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695820 S 2026 1 0 "" nsv871082 1 5828924 6167730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530409 S 6533 0 1 CHD5,KCNAB2,MIR4689,NPHP4,RPL22 MS10311 nsv871579 1 5836208 5922716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532359 S 6533 0 1 MIR4689,NPHP4 MS10769 nsv825586 1 5856348 5857220 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423942 S 31 0 1 NPHP4 NA18582 esv267940 1 5856856 5857155 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546492,essv2526292,essv2542430,essv2544022,essv2556816,essv2568304,essv2531812,essv2577574,essv2548522,essv2521758,essv2550523,essv2525217,essv2534982,essv2520650,essv2577694,essv2565503,essv2576291,essv2520239,essv2537454,essv2528266,essv2546759,essv2557449,essv2556995,essv2552344,essv2550074,essv2537008,essv2538991,essv2561318,essv2566798,essv2551010,essv2528121,essv2533980,essv2538589,essv2526664,essv2560651,essv2560838,essv2560424,essv2538004,essv2548990,essv2563519 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 5856861 5857150 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581767,essv2582322,essv2582865 M 7 3 0 Samples from several populations that are part of the HapMap project. NPHP4 NA12878,NA12891,NA12892 nsv831314 1 5872056 6045644 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442151,nssv1442162,nssv1442129,nssv1442140 M 95 0 4 KCNAB2,NPHP4 nsv743 1 5884716 5929974 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 nsv870809 1 5922716 6010951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534674 S 6533 0 1 KCNAB2,NPHP4 MS11726 nsv506919 1 5958193 5964193 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 esv33437 1 5960156 5960624 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 nsv520207 1 5965521 5968851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697281 S 2026 0 1 NPHP4 nsv871226 1 5968851 6135457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549600 S 6533 0 1 CHD5,KCNAB2,NPHP4 MS18276 esv2470104 1 5987298 5989575 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382298 S 1 0 1 KCNAB2 NA18507 esv22772 1 5987337 5989520 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 nsv159264 1 5987880 5988077 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177842 M 24 KCNAB2 nsv511675 1 5988444 5989387 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626313 S 1 0 1 KCNAB2 1 esv7234 1 5988558 5989006 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29675 S 1 0 1 KCNAB2 SJK nsv511127 1 5988686 5993457 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626143 S 1 0 1 KCNAB2 1 nsv871698 1 6010951 6500352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546438 S 6533 0 1 ACOT7,CHD5,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,MIR4252,PLEKHG5,RNF207,RPL22,TNFRSF25 MS17208 nsv461283 1 6030964 6106679 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 dgv117n71 1 6039758 6119456 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871316,nsv871032 M 6533 0 2 CHD5,KCNAB2 IS39233,MS21124 dgv118n71 1 6063912 6135457 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870519,nsv871667,nsv871573,nsv871138 M 6533 0 4 CHD5,KCNAB2 IS32737,IS32841,IS33684,IS41894 nsv871817 1 6063912 6167730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597261 S 6533 0 1 CHD5,KCNAB2,RPL22 IS40799 nsv870945 1 6063912 6379059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529774 S 6533 0 1 ACOT7,CHD5,GPR153,HES3,ICMT,KCNAB2,RNF207,RPL22 MS10123 nsv470689 1 6071709 6156160 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547693,nssv547692,nssv547691,nssv547694 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 dgv119n71 1 6081149 6500352 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871215,nsv870643,nsv871265,nsv871659,nsv870602,nsv870634,nsv871174,nsv870777 M 6533 0 8 ACOT7,CHD5,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,MIR4252,PLEKHG5,RNF207,RPL22,TNFRSF25 IS32841,IS34005,IS37646,IS38176,IS39233,MS10311,MS16153,MS18276 nsv871337 1 6083662 6119456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509718 S 6533 0 1 CHD5,KCNAB2 SP54956 nsv825697 1 6084347 6085127 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431963 S 31 1 0 CHD5 NA18972 esv21998 1 6089305 6091890 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 nsv870818 1 6098076 6135457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584762 S 6533 0 1 CHD5 IS37172 nsv831425 1 6111938 6247065 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442196,nssv1442185,nssv1442173 M 95 0 3 ACOT7,CHD5,GPR153,HES3,ICMT,RNF207,RPL22 nsv818555 1 6112802 6135457 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417552 S 112 0 1 CHD5 NA18971 nsv854 1 6113852 6158730 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 nsv871123 1 6124832 6167730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572613,nssv1589064 M 6533 0 2 CHD5,RPL22 IS33162,IS38293 dgv120n71 1 6168958 6296061 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871491,nsv871597,nsv870577 M 6533 0 3 ACOT7,GPR153,HES3,ICMT,RNF207,RPL22 IS33455,IS33504,IS34235 dgv121n71 1 6175030 6252602 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871342,nsv871654 M 6533 0 4 ACOT7,GPR153,HES3,ICMT,RNF207,RPL22 IS30369,IS33239,IS37172,MS10769 dgv8n67 1 6203268 6246950 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825808,nsv825919 M 31 2 0 ACOT7,GPR153,HES3,ICMT,RNF207 AK6,NA18969 nsv508825 1 6203922 6269196 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 nsv871569 1 6214397 6310371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557673 S 6533 0 1 ACOT7,GPR153,HES3,ICMT MS22798 dgv122n71 1 6214397 6482950 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871195,nsv870891,nsv871073 M 6533 0 4 ACOT7,ESPN,GPR153,HES2,HES3,ICMT,MIR4252,PLEKHG5,TNFRSF25 IS32322,IS33684,MS13095,MS13770 dgv123n71 1 6214657 6252602 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871272,nsv871369,nsv871090,nsv871616,nsv870672,nsv870972 M 6533 0 8 ACOT7,GPR153,HES3,ICMT SP51109,SP54593,SP54657,SP54725,SP54956,SP54967,SP54988,SP55019 nsv871385 1 6216477 6234603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511725 S 6533 0 1 GPR153,HES3,ICMT SP55056 nsv871646 1 6227499 6384117 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572614 S 6533 0 1 ACOT7,GPR153,HES3 IS33162 dgv124n71 1 6227640 6247685 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871571,nsv871034 M 6533 0 2 ACOT7,GPR153,HES3 SP54043,SP54173 nsv871266 1 6227640 6252602 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506331 S 6533 0 1 ACOT7,GPR153,HES3 SP54225 nsv526371 1 6229842 6289806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702667 S 2026 0 1 ACOT7,GPR153 nsv871324 1 6231157 6273763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509309 S 6533 0 1 ACOT7,GPR153 SP54782 nsv871592 1 6234603 6246918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518105 S 6533 0 1 GPR153 SP57469 nsv965 1 6235767 6280469 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 nsv871117 1 6238119 6252602 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505815 S 6533 0 1 ACOT7,GPR153 SP53990 nsv519253 1 6245523 6252602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696748 S 2026 0 1 ACOT7 esv24092 1 6288906 6291480 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 6289806 6379059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694782 S 2026 0 1 ACOT7 nsv521525 1 6302194 6310371 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698142 S 2026 0 1 ACOT7 nsv1076 1 6307937 6352169 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 dgv125n71 1 6325607 6486743 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871801,nsv870578 M 6533 0 2 ACOT7,ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 IS35484,IS40396 nsv523989 1 6333801 6379059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699845 S 2026 0 1 ACOT7 esv21684 1 6360781 6368422 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 dgv2n27 1 6379059 6494762 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461839,nsv461950,nsv461616,nsv461728 M 1557 0 4 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 1780862021_A,HGDP00814,NINDS_66,NINDS_98 esv29840 1 6381440 6382138 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 6389543 6483676 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 6399215 6444103 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 nsv871453 1 6399775 6409618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505916 S 6533 0 1 ESPN,HES2 SP54043 nsv871719 1 6399775 6486743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510638 S 6533 0 1 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 SP54988 nsv7880 1 6400615 6594561 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21438,nssv11789,nssv24605 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 nsv482179 1 6407435 6443590 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 nsv831536 1 6411973 6587990 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442307,nssv1442340,nssv1442273,nssv1442362,nssv1442240,nssv1442318,nssv1442218,nssv1442351,nssv1442251,nssv1442373,nssv1442207,nssv1442229,nssv1442284,nssv1442262,nssv1442296,nssv1442329 M 95 0 16 ESPN,KLHL21,MIR4252,NOL9,PLEKHG5,TAS1R1,TNFRSF25,ZBTB48 dgv9n67 1 6412513 6447077 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826030,nsv826142 M 31 2 0 ESPN,MIR4252,TNFRSF25 NA18564,NA18969 nsv470690 1 6416986 6494762 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 nsv870465 1 6421441 6455722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509017,nssv1508766 M 6533 0 2 ESPN,PLEKHG5,TNFRSF25 SP54672,SP54725 dgv126n71 1 6421441 6500352 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871254,nsv870922,nsv870746 M 6533 0 3 ESPN,PLEKHG5,TNFRSF25 MS16315,SP54043,SP54956 dgv127n71 1 6432145 6464917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870902,nsv870790 M 6533 0 2 ESPN,PLEKHG5,TNFRSF25 SP55019,SP55021 nsv470691 1 6442898 6500352 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 dgv128n71 1 6444795 6457368 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871013,nsv871111,nsv870707,nsv871841,nsv871413 M 6533 0 8 PLEKHG5,TNFRSF25 SP54591,SP54593,SP54657,SP54750,SP54937,SP54967,SP55992,SP81010 nsv870716 1 6446017 6464917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509016 S 6533 0 1 PLEKHG5,TNFRSF25 SP54684 nsv462061 1 6446017 6503483 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 nsv1187 1 6470431 6490052 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 nsv831647 1 6508456 6570177 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442451,nssv1442518,nssv1442418,nssv1442429,nssv1442462,nssv1442529,nssv1442473,nssv1442395,nssv1442484,nssv1442540,nssv1442495,nssv1442384,nssv1442407,nssv1442506,nssv1442440 M 95 0 15 NOL9,TAS1R1,ZBTB48 esv1249079 1 6541559 6541559 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064753 S 2 1 0 TAS1R1 HuRef esv259781 1 6543027 6553006 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396471,essv2398444,essv2395903 M 144 0 0 Samples from several populations that are part of the HapMap project. TAS1R1 NA18517,NA18871,NA18945 dgv129n71 1 6546086 6643577 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871768,nsv871069 M 6533 0 2 DNAJC11,KLHL21,PHF13,TAS1R1,THAP3,ZBTB48 MS17208,MS18276 nsv871348 1 6562434 7032921 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558402 S 6533 1 0 CAMTA1,DNAJC11,KLHL21,PHF13,THAP3,ZBTB48 MS23257 nsv870646 1 6565251 6575926 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499683 S 6533 0 1 KLHL21,ZBTB48 SP50159 dgv130n71 1 6579827 6610945 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871056,nsv871742 M 6533 0 3 KLHL21,PHF13,THAP3 SP54043,SP54725,SP55021 nsv826253 1 6582832 6611290 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426369 S 31 1 0 KLHL21,PHF13,THAP3 AK6 nsv437199 1 6624738 6726334 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 esv2640779 1 6651194 6652460 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234545 S 1 0 1 DNAJC11 NA18507 esv2237641 1 6651805 6652374 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834781 S 1 0 1 DNAJC11 NA18507 nsv1298 1 6660795 6681039 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 nsv525013 1 6679021 6683848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701050 S 2026 0 1 DNAJC11 esv28409 1 6685213 6686083 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 6710103 6715982 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14015 S 451 1 0 "" NA19225 nsv512713 1 6725094 6725389 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625337 S 1 1 0 "" 1 esv1464790 1 6725208 6725208 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709090 S 2 1 0 "" HuRef esv1979443 1 6781129 6781558 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873252 S 1 0 1 CAMTA1 NA18507 esv1086035 1 6781239 6781418 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780745 S 2 0 1 CAMTA1 HuRef esv999225 1 6781243 6781419 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581910 S 3 0 1 CAMTA1 HuRef esv25521 1 6783932 6784505 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 nsv871178 1 6809236 6894980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586580 S 6533 0 1 CAMTA1 IS37874 esv2556451 1 6923003 6923833 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345164 S 1 1 0 CAMTA1 NA18507 nsv512714 1 6923530 6923586 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625338 S 1 1 0 CAMTA1 1 esv1590628 1 6923582 6923582 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106152 S 2 1 0 CAMTA1 HuRef esv28688 1 6945255 6946116 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 esv2482000 1 6966217 6967286 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354983 S 1 1 0 CAMTA1 NA18507 esv988826 1 7000790 7000790 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566621 S 3 1 0 CAMTA1 HuRef nsv519205 1 7012803 7022247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696693 S 2026 0 1 CAMTA1 esv990496 1 7069978 7082370 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563883 S 3 0 1 CAMTA1 HuRef esv2444029 1 7086693 7086841 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208770 S 1 0 1 CAMTA1 NA18507 esv1124399 1 7097432 7097873 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044198 S 2 0 1 CAMTA1 HuRef nsv462394 1 7108912 7154071 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 nsv871273 1 7179530 7249208 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558403 S 6533 1 0 CAMTA1 MS23257 esv275496 1 7247055 7247995 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586154 S 1250 0 1 CAMTA1 nsv1410 1 7338213 7362575 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 nsv871464 1 7386962 7590933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530411 S 6533 0 1 CAMTA1 MS10311 nsv527338 1 7405633 7408904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703764 S 2026 0 1 CAMTA1 esv274189 1 7408744 7408958 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 esv269095 1 7408811 7409078 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520936,essv2569345,essv2556155,essv2529481,essv2538855,essv2530281,essv2571096 M 157 7 0 Samples from several populations that are part of the HapMap project. CAMTA1 NA18498,NA18508,NA18871,NA19093,NA19108,NA19141,NA19238 nsv831758 1 7413944 7594260 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442584,nssv1442562,nssv1442551,nssv1442573 M 95 1 3 CAMTA1 nsv871310 1 7415578 7448569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543348 S 6533 0 1 CAMTA1 MS16153 nsv871370 1 7427324 7449895 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558404 S 6533 1 0 CAMTA1 MS23257 nsv522589 1 7430229 7441851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705976 S 2026 0 1 CAMTA1 nsv518903 1 7435612 7441285 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696361 S 2026 0 1 CAMTA1 nsv870872 1 7435612 7498253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546440 S 6533 0 1 CAMTA1 MS17208 nsv526782 1 7469799 7472075 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703134 S 2026 0 1 CAMTA1 esv2647714 1 7475559 7475822 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309036 S 1 0 1 CAMTA1 NA18507 esv1935214 1 7475977 7476287 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549214 S 1 0 1 CAMTA1 NA18507 nsv527595 1 7479739 7489999 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704056 S 2026 0 1 CAMTA1 nsv826364 1 7489022 7490019 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421439 S 31 1 0 CAMTA1 NA18997 nsv7991 1 7491072 7494340 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 esv28432 1 7491802 7494108 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 7491802 7494188 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420846 S 1 0 1 CAMTA1 NA10851 nsv826475 1 7491802 7494188 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421440,nssv1438581,nssv1427245,nssv1422357,nssv1423943,nssv1440113,nssv1425484,nssv1430329,nssv1424725,nssv1428015,nssv1431790,nssv1431057,nssv1426370 M 31 0 13 CAMTA1 AK10,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18552,NA18564,NA18582,NA18973,NA18997 esv2592830 1 7492204 7494913 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286155 S 1 0 1 CAMTA1 NA18507 nsv819302 1 7492405 7494002 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419290 S 2 0 1 CAMTA1 AK1 esv2190574 1 7492498 7494279 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836092 S 1 0 1 CAMTA1 NA18507 esv3915 1 7492621 7494271 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26356 S 1 0 1 Single Asian sample YH CAMTA1 YH esv7233 1 7492661 7494110 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29674 S 1 0 1 CAMTA1 SJK dgv10n67 1 7492810 7493979 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826586,nsv826697 M 31 2 0 CAMTA1 NA18968,NA18969 nsv826808 1 7493150 7493730 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436326 S 31 1 0 CAMTA1 NA18542 dgv15e1 1 7494050 7610646 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1390,essv12439 M 271 0 0 CAMTA1 NA19152 esv23816 1 7500245 7502465 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 nsv512715 1 7502743 7503046 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625339 S 1 1 0 CAMTA1 1 nsv870745 1 7507401 7547442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529775 S 6533 0 1 CAMTA1 MS10123 esv993163 1 7531319 7531545 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579404 S 3 0 1 CAMTA1 HuRef esv1611358 1 7531327 7531554 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860626 S 2 0 1 CAMTA1 HuRef nsv520077 1 7560566 7567389 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697212 S 2026 0 1 CAMTA1 nsv871278 1 7608781 7671112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546441,nssv1592092 M 6533 0 2 CAMTA1 IS39233,MS17208 esv1977744 1 7637619 7637973 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674847 S 1 0 1 CAMTA1 NA18507 esv8105 1 7637637 7637872 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30546 S 1 0 1 CAMTA1 SJK nsv871889 1 7638363 7697922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585781 S 6533 0 1 CAMTA1 IS37646 esv28595 1 7685616 7688145 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 nsv870846 1 7768282 7833686 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555730 S 6533 0 1 PER3,UTS2 MS21528 nsv161033 1 7778984 7787527 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179611 M 24 PER3 esv991458 1 7812574 7812627 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570335 S 3 0 1 PER3 HuRef esv1585189 1 7845636 7845696 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804508 S 2 0 1 "" HuRef esv5046 1 7847521 7848259 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27487 S 1 0 1 Single Asian sample YH "" YH nsv160721 1 7847524 7847971 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179299 M 24 "" esv29691 1 7847539 7848144 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 7847539 7848144 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420957 S 1 0 1 "" NA10851 esv9095 1 7847542 7848172 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31536 S 1 0 1 "" SJK esv259866 1 7895683 7896229 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398355 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA19093 nsv871360 1 7895757 8166732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558405 S 6533 1 0 ERRFI1,PARK7,TNFRSF9 MS23257 nsv1521 1 7936826 7970080 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 esv2403277 1 7972997 7973356 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650492 S 1 0 1 "" NA18507 esv6796 1 8009540 8009603 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29237 S 1 1 0 "" SJK nsv528132 1 8067881 8069744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704677 S 2026 0 1 "" esv25059 1 8105031 8113962 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 8105049 8112441 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5053091,essv5012227,essv5037691,essv5115860,essv5022989,essv5113994,essv5088579,essv5028046,essv5060745,essv5142796,essv5141409,essv5016176,essv5120988,essv5009796,essv5014120,essv5022164,essv5003208,essv5078502,essv5071617,essv5132727,essv5038470,essv5120024,essv5005423,essv5075870,essv5021464,essv5114664,essv5019834,essv5015810,essv5073414,essv5080397,essv5053733,essv5031289,essv5146224,essv5147348,essv5107816,essv5143136,essv5142988,essv5159857,essv5154659 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 nsv442907 1 8105171 8111872 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv831870 1 8125994 8276744 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442652,nssv1442617,nssv1442630,nssv1442641,nssv1442606,nssv1442595 M 95 0 6 "" esv22301 1 8126671 8133714 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 nsv441679 1 8128717 8131908 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv23800 1 8139415 8163405 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15760 S 451 1 0 "" NA12156 nsv1632 1 8160996 8206161 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7290 S 9 0 1 "" NA12156 esv1547514 1 8259524 8259524 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685454 S 2 1 0 "" HuRef nsv871164 1 8295795 8359389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530412 S 6533 0 1 RERE,SLC45A1 MS10311 nsv1743 1 8300340 8334303 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 8304272 8305144 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625340 S 1 1 0 "" 1 esv2601359 1 8304404 8305201 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225689 S 1 1 0 "" NA18507 nsv516827 1 8313475 8346097 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684816,nssv685632,nssv693483,nssv671511,nssv656941,nssv679037,nssv657128,nssv654276,nssv693424 M 2026 0 9 RERE,SLC45A1 esv1250756 1 8314094 8314094 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006791 S 2 1 0 SLC45A1 HuRef esv2624373 1 8326992 8327926 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304328 S 1 1 0 "" NA18507 esv1162151 1 8327542 8327542 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276612 S 2 1 0 "" HuRef nsv819494 1 8338735 8344018 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419699 S 2 1 0 RERE AK1 esv990980 1 8358166 8358166 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583268 S 3 1 0 RERE HuRef esv273761 1 8369188 8369431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 8369196 8369518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558165,essv2565689,essv2575808,essv2540935,essv2521100,essv2526156,essv2542233,essv2536780,essv2522919,essv2543852,essv2570907,essv2556615,essv2531804,essv2521655,essv2550751,essv2525399,essv2535079,essv2553993,essv2544263,essv2552139,essv2520382,essv2547550,essv2558314,essv2577789,essv2559488,essv2565498,essv2576429,essv2564173,essv2554940,essv2561751,essv2546789,essv2552441,essv2551882,essv2532047,essv2544714,essv2562817,essv2523502,essv2541339,essv2538216,essv2542755,essv2540499,essv2524665,essv2565105,essv2534818,essv2561114,essv2539619,essv2549548,essv2519703,essv2560042,essv2522133,essv2566227,essv2531190,essv2532915,essv2567950,essv2528914,essv2567633,essv2541643,essv2570173,essv2563632,essv2553211,essv2535758,essv2572262,essv2559401,essv2551034,essv2556244,essv2528159,essv2533916,essv2578320,essv2573241,essv2555233,essv2533443,essv2555488,essv2567034,essv2530134,essv2573839,essv2527484,essv2555796,essv2534254,essv2522407,essv2531483,essv2573625,essv2543245,essv2577151,essv2571869,essv2527007,essv2538711,essv2526576,essv2524052,essv2530273,essv2572725,essv2571113,essv2545712,essv2574134,essv2536145,essv2538134,essv2548777,essv2533079,essv2525155,essv2563419 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 8378299 8394751 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700963 S 2026 0 1 RERE esv270262 1 8424556 8424907 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519296,essv2517053,essv2518736,essv2518542,essv2516472,essv2514425 M 157 6 0 Samples from several populations that are part of the HapMap project. RERE NA11894,NA11931,NA12045,NA12287,NA12814,NA12874 esv268185 1 8450866 8450951 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 esv25533 1 8473045 8474309 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 nsv159615 1 8500203 8503822 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178193 M 24 RERE nsv826919 1 8593977 8596557 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423363 S 31 1 0 RERE NA18968 esv26500 1 8594205 8608321 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 2 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 nsv827030 1 8597147 8607597 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435647 S 31 0 1 RERE NA18566 esv2407042 1 8628533 8628957 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792099 S 1 0 1 RERE NA18507 esv27511 1 8637775 8642826 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 8638338 8642367 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423374 S 31 1 0 RERE NA18968 esv2384996 1 8651416 8651857 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771378 S 1 0 1 RERE NA18507 nsv871184 1 8661524 8761887 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590112 S 6533 0 1 RERE IS38463 nsv871221 1 8661524 8813712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598966 S 6533 0 1 RERE IS41113 esv25426 1 8689030 8697499 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 nsv871694 1 8718138 8989282 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558406 S 6533 1 0 CA6,ENO1,ENO1-AS1,RERE,SLC2A7 MS23257 nsv871022 1 8744951 8839104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569056 S 6533 0 1 RERE IS31419 nsv1854 1 8748742 8782277 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 8810828 8839227 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv482,essv9828 M 271 0 0 "" NA18863 nsv871026 1 8843299 8898561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546442 S 6533 0 1 ENO1,ENO1-AS1 MS17208 nsv527110 1 8913728 8914460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703492 S 2026 0 1 "" nsv1965 1 8926325 8930244 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 8931993 8934309 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671111,nssv692368,nssv669183,nssv660728,nssv671439,nssv666175,nssv660321,nssv671923,nssv660579 M 2026 0 9 CA6 nsv871338 1 8953551 8979356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515922 S 6533 0 1 CA6 SP56313 nsv526389 1 8961609 8972459 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702688 S 2026 0 1 "" nsv871609 1 8967992 8990607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500211 S 6533 0 1 SLC2A7 SP50559 nsv462616 1 8981133 9003553 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 8981133 9003553 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701151 S 2026 1 0 SLC2A7 nsv462727 1 9002998 9055643 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 9014304 9170154 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 esv1504235 1 9036107 9036107 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665009 S 2 1 0 SLC2A5 HuRef esv1740239 1 9036142 9036142 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265262 S 2 1 0 SLC2A5 HuRef nsv512717 1 9043542 9044383 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625341 S 1 1 0 SLC2A5 1 esv2422210 1 9089163 9197219 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 nsv871145 1 9093465 9141308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576881 S 6533 0 1 GPR157,MIR34A IS34304 esv1519481 1 9098831 9098831 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133256 S 2 1 0 GPR157 HuRef nsv832092 1 9109155 9287189 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 nsv871755 1 9168159 9238434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509721 S 6533 0 1 H6PD SP54956 dgv2e55 1 9238434 9327280 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750846,esv2750843,esv2750844 M 771 3 0 H6PD,SPSB1 BEC_287,BEC_670,SPC_192 esv23318 1 9240393 9243813 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 dgv131n71 1 9240988 9329566 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870739,nsv871232,nsv870557,nsv871423 M 6533 7 0 H6PD,SPSB1 IS30539,IS34218,IS35506,IS36458,IS38050,IS38057,IS39046 dgv3n27 1 9240988 9334995 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463172,nsv462950,nsv463950,nsv462839,nsv463061 M 1557 5 0 H6PD,SPSB1 1780854392_A,1780854556_A,1780862066_A,1780862577_A,HGDP00136 nsv520191 1 9243828 9319247 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661584,nssv696393,nssv688630,nssv662674,nssv687341 M 2026 5 0 H6PD,SPSB1 esv2750845 1 9250000 9311805 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 nsv870719 1 9272525 9363627 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558407 S 6533 1 0 SPSB1 MS23257 esv2201511 1 9292566 9292989 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737746 S 1 0 1 SPSB1 NA18507 esv1000068 1 9292718 9292718 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571220 S 3 1 0 SPSB1 HuRef dgv132n71 1 9293686 9353810 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871319,nsv871027 M 6533 0 2 SPSB1 MS10311,MS17208 nsv871098 1 9293686 9391701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543349 S 6533 0 1 SPSB1 MS16153 nsv464172 1 9300451 9336233 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540129 S 1557 0 1 SPSB1 1780854065_A nsv827253 1 9353942 9354616 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431791 S 31 0 1 "" AK20 esv2616653 1 9361917 9363588 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231075 S 1 0 1 "" NA18507 esv2203424 1 9362487 9363139 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643328 S 1 0 1 "" NA18507 esv2443842 1 9393000 9393819 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170213 S 1 1 0 "" NA18507 nsv517755 1 9437433 9462280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674995,nssv653129,nssv661666,nssv658552,nssv693425,nssv670279,nssv692200 M 2026 0 7 "" esv2476310 1 9516165 9522726 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297378 S 1 0 1 SLC25A33 NA18507 esv2577357 1 9517491 9520883 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368321 S 1 0 1 "" NA18507 esv28451 1 9518760 9520515 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 9519805 9554020 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 nsv871521 1 9562878 9588951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510639 S 6533 0 1 SLC25A33,TMEM201 SP54988 nsv871610 1 9578382 9930808 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558408 S 6533 1 0 C1orf200,CLSTN1,CTNNBIP1,LZIC,NMNAT1,PIK3CD,TMEM201 MS23257 nsv2187 1 9589883 9616337 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3334,nssv9906,nssv10282,nssv4948,nssv3119,nssv6883,nssv1500 M 9 7 0 TMEM201 NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508847 1 9594782 9661476 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619767,nssv623772,nssv621081 M 4 3 0 C1orf200,PIK3CD,TMEM201 NA10860,NA15510,NA18994 esv1010171 1 9606595 9608107 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565355 S 3 1 0 "" HuRef nsv832203 1 9649219 9782796 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 9662837 9663252 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393758,essv2394044,essv2394363 M 6 0 0 Samples from several populations that are part of the HapMap project. PIK3CD NA19238,NA19239,NA19240 nsv160151 1 9685183 9688695 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178729 M 24 PIK3CD nsv827364 1 9745319 9747784 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431975 S 31 0 1 CLSTN1 NA18972 nsv2298 1 9748873 9780074 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 dgv11n67 1 9769142 9779958 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827475,nsv827586,nsv827697 M 31 0 4 CLSTN1 NA18526,NA18564,NA18570,NA18949 nsv498662 1 9769237 9779283 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585382 S 9 0 1 CLSTN1 nsv871146 1 9819588 9873875 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530414 S 6533 0 1 CTNNBIP1 MS10311 nsv527217 1 10016044 10179754 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703617 S 2026 1 0 UBE4B nsv522629 1 10048352 10161784 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706027 S 2026 1 0 UBE4B nsv525216 1 10118527 10123161 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701302 S 2026 1 0 UBE4B esv2562286 1 10152982 10154339 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304967 S 1 0 1 UBE4B NA18507 dgv17e1 1 10160657 10505141 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 nsv512718 1 10170195 10170662 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625342 S 1 1 0 "" 1 esv4531 1 10257291 10257519 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26972 S 1 0 1 Single Asian sample YH KIF1B YH esv2550823 1 10274566 10275850 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364930 S 1 0 1 KIF1B NA18507 nsv2409 1 10288677 10310823 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 10289074 10310291 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437201,nsv437200 M 60 0 2 KIF1B NA18500,NA18914 nsv436146 1 10291453 10301596 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 10291557 10301433 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26900,nssv26885,nssv24611 M 31 0 3 Samples from several populations that are part of the HapMap project. KIF1B NA18502,NA18853,NA19132 esv23835 1 10292005 10301472 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 esv2421759 1 10292133 10300570 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5118117,essv5131012,essv5151358,essv5104647,essv5029372,essv5110636,essv5117819,essv5072375,essv5048097,essv5066898,essv5124066,essv5146221,essv5031808,essv5073299,essv5011913,essv5028433,essv5158917,essv5098414,essv5032695,essv5093833,essv5142692,essv5011379,essv5012723,essv5103254,essv5074473,essv5084373,essv5033256,essv5071040,essv5049783,essv5081479,essv5145827,essv5145720,essv5107159,essv5053735,essv5075248,essv5087410,essv5100113,essv5037021,essv5005447,essv5089301,essv5155081,essv5062929,essv5060455,essv5014103,essv5064063,essv5077233,essv5033654,essv5031784,essv5095610,essv5141223,essv5030658,essv5131639,essv5054475,essv5013970,essv5131248,essv5045696,essv5059809,essv5062374,essv5109789 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 10292899 10296090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660763,nssv690059,nssv690144,nssv671141,nssv656381,nssv680299,nssv676915,nssv686246,nssv691095,nssv663872,nssv654559,nssv695737,nssv657555,nssv682975,nssv658813,nssv679262,nssv658241,nssv656820,nssv666539,nssv687648,nssv680418,nssv667908,nssv667133 M 2026 0 23 KIF1B nsv818666 1 10292899 10296090 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417808,nssv1416820,nssv1417809,nssv1418422 M 112 0 4 KIF1B NA18853,NA18854,NA19192,NA19238 nsv441678 1 10293128 10300570 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIF1B nsv513981 1 10293441 10300549 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 10297766 10301003 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467963,nssv471534,nssv467852,nssv468074,nssv468185,nssv467741 M 269 0 6 Samples from several populations that are part of the HapMap project. KIF1B NA18500,NA18502,NA18912,NA18914,NA19130,NA19132 essv3548 1 10372030 10505141 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 10373501 10383026 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 esv1010529 1 10398782 10401173 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564483 S 3 0 1 PGD HuRef nsv8324 1 10404184 10407232 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26893,nssv28046,nssv24601,nssv24615,nssv24609,nssv24596,nssv12119,nssv24608,nssv26889,nssv28538,nssv11773,nssv21445,nssv28037,nssv28052,nssv21428,nssv26875,nssv28548,nssv29270,nssv26887,nssv29251 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 10404830 10406384 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626314 S 1 0 1 "" 1 dgv12n67 1 10404929 10406229 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 10405039 10406535 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26118 S 1 0 1 Single Asian sample YH "" YH esv7749 1 10405061 10406392 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30190 S 1 0 1 "" SJK nsv160262 1 10405068 10406366 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178840 M 24 "" esv26404 1 10405137 10406094 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 esv2421360 1 10466423 10467633 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005178,essv5074992,essv5160849,essv5023863,essv5094667,essv5010570,essv5151853,essv5148686,essv5118967,essv5138311,essv5115009,essv5142946,essv5151994,essv5111430,essv5122639,essv5160550,essv5145841,essv5043282,essv5087529,essv5072629,essv5079670,essv5120264,essv5154504,essv5030172,essv5037011,essv5125662,essv5061676,essv5099736,essv5088559,essv5057594,essv5102680 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 10476117 10520758 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 nsv8435 1 10490771 10494961 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 nsv517464 1 10561191 10565784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679135,nssv652091,nssv685750,nssv693755,nssv683372,nssv681545 M 2026 0 6 PEX14 nsv818777 1 10561191 10565784 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417173 S 112 0 1 PEX14 NA18550 esv275132 1 10578911 10580499 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586077 S 1250 0 1 PEX14 dgv4n27 1 10595781 10719453 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464505,nsv465061 M 1557 0 2 CASZ1,PEX14 1780862093_A,1780862573_A esv29966 1 10599387 10796739 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 10600149 10717748 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436327 S 31 1 0 CASZ1,PEX14 NA18542 dgv133n71 1 10606685 10679786 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870483,nsv871737,nsv871950,nsv870460,nsv871156,nsv870683,nsv871824 M 6533 0 12 CASZ1,PEX14 IS32737,IS33665,IS33797,IS37172,IS37646,IS37985,IS38293,IS40828,IS41634,MS10123,SP54725,SP55021 dgv134n71 1 10606685 10699847 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871478,nsv871361,nsv871290 M 6533 0 7 CASZ1,PEX14 IS32888,IS38176,IS38403,IS39233,IS39417,MS16315,SP54988 dgv135n71 1 10606685 10724172 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870923,nsv871191,nsv871070,nsv871469 M 6533 0 4 CASZ1,PEX14 IS33684,MS16153,MS17208,MS18276 nsv464949 1 10613535 10679786 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540805 S 1557 0 1 CASZ1 1780862345_A nsv525693 1 10616712 10763492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701852 S 2026 0 1 CASZ1 nsv870849 1 10616712 10817311 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530415 S 6533 0 1 CASZ1 MS10311 nsv828141 1 10618064 10626784 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423940 S 31 1 0 CASZ1 NA18947 nsv828252 1 10620397 10625621 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433409 S 31 1 0 CASZ1 NA18526 nsv828364 1 10620397 10686751 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440798 S 31 1 0 CASZ1 NA18969 nsv436924 1 10627275 10654856 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 nsv871904 1 10627275 10679786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573162 S 6533 0 1 CASZ1 IS33248 nsv832314 1 10627398 10782506 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442696,nssv1442718,nssv1442707 M 95 0 3 CASZ1 nsv438081 1 10628678 10640184 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 nsv508858 1 10633211 10735797 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 nsv818888 1 10642232 10673019 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417515 S 112 0 1 CASZ1 NA18968 esv997282 1 10654369 10668236 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564310 S 3 0 1 CASZ1 HuRef dgv18e1 1 10665089 10843742 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7352,essv21666,essv22143,essv18597,essv11014,essv5362,essv2783,essv13846,essv18290,essv3996 M 271 0 0 CASZ1 NA10846,NA10857,NA12234,NA12248,NA18563,NA18570,NA18854,NA18970,NA18987,NA19143 dgv19e1 1 10665089 10977734 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7839,esv239 M 271 0 0 C1orf127,CASZ1 NA18558 nsv8546 1 10675514 10679354 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 nsv465172 1 10679786 10719453 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541028 S 1557 0 1 CASZ1 1780862416_A nsv871905 1 10679786 10724172 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570673 S 6533 0 1 CASZ1 IS32322 nsv465283 1 10690489 10738008 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541114 S 1557 0 1 CASZ1 NINDS_198 essv11784 1 10726405 10843742 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 dgv136n71 1 10754909 10824581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871772,nsv870589 M 6533 0 2 CASZ1 MS17208,MS18276 nsv159406 1 10767813 10767813 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177984 M 24 CASZ1 nsv871617 1 10781333 10857819 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543351 S 6533 0 1 "" MS16153 nsv871155 1 10781333 10921096 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558409 S 6533 1 0 "" MS23257 nsv832425 1 10826432 11045562 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 esv2418090 1 10835960 10836423 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522724 S 1 0 1 "" NA18507 esv27036 1 10874013 10874782 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19765 S 451 0 1 "" NA19147 nsv516264 1 10906538 10907149 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667169,nssv688415,nssv655703,nssv662101,nssv683701,nssv680546,nssv693249,nssv676652 M 2026 0 8 "" esv2576089 1 10915938 10916329 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340923 S 1 0 1 "" NA18507 nsv508869 1 10938844 10991103 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 esv1628805 1 10965819 10966556 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981893 S 2 0 1 "" HuRef esv2592186 1 10982291 10985877 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335168 S 1 0 1 "" NA18507 esv23739 1 10982754 10984494 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14228 S 451 0 1 "" NA19190 esv25881 1 11020149 11028638 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 dgv137n71 1 11025995 11052435 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870879,nsv870763 M 6533 0 2 EXOSC10,MASP2,SRM SP54725,SP54956 nsv871818 1 11034216 11047637 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505919 S 6533 0 1 SRM SP54043 nsv870986 1 11037527 11052435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508946 S 6533 0 1 EXOSC10,SRM SP54591 esv267860 1 11134836 11135161 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 nsv516050 1 11295225 11320952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700989,nssv665889,nssv683456,nssv701963 M 2026 0 4 "" nsv832536 1 11311364 11484928 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442752 S 95 0 1 PTCHD2 nsv465394 1 11416419 11443240 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541193 S 1557 0 1 "" 1780854097_A nsv528438 1 11419581 11424018 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705033 S 2026 0 1 "" dgv138n71 1 11454505 11536855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871576,nsv871842,nsv870530 M 6533 0 3 PTCHD2 IS33684,MS10311,MS16153 nsv2632 1 11459664 11490439 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 nsv871932 1 11480557 11549445 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558410 S 6533 1 0 PTCHD2 MS23257 nsv832647 1 11484934 11592183 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 11485077 11523706 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 11485077 11549445 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 11497847 11545566 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 11500418 11517918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694500 S 2026 0 1 PTCHD2 esv2628262 1 11504990 11505756 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205183 S 1 1 0 PTCHD2 NA18507 esv26916 1 11505139 11505609 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 esv273466 1 11522398 11522530 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 11536855 11549445 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697308 S 2026 0 1 "" esv2570682 1 11605279 11606978 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218562 S 1 0 1 "" NA18507 esv2017403 1 11605301 11605956 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788047 S 1 0 1 "" NA18507 esv3208 1 11605423 11605899 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25649 S 1 0 1 Single Asian sample YH "" YH esv7758 1 11605480 11605771 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30199 S 1 0 1 "" SJK nsv832758 1 11619670 11759731 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 dgv139n71 1 11629378 11651262 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871769,nsv871114,nsv871392,nsv870711 M 6533 0 4 FBXO2,FBXO44,FBXO6 SP54043,SP54725,SP54956,SP54988 nsv515826 1 11633148 11636150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666865,nssv664907,nssv693798,nssv682473,nssv685412,nssv681520,nssv679392,nssv673329,nssv660113,nssv683681,nssv674188,nssv682277,nssv655395 M 2026 0 13 FBXO2 nsv871014 1 11633148 11815237 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558411 S 6533 1 0 AGTRAP,C1orf187,CLCN6,FBXO2,FBXO44,FBXO6,MAD2L2,MTHFR MS23257 nsv871850 1 11635753 11647525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510492,nssv1511310 M 6533 0 2 FBXO2,FBXO44,FBXO6 SP54967,SP55021 nsv521468 1 11636150 11639887 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694449 S 2026 0 1 FBXO2,FBXO44 dgv140n71 1 11686264 11778965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870873,nsv870810 M 6533 0 2 AGTRAP,C1orf187,MTHFR IS38274,MS17208 nsv508880 1 11704027 11753907 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 nsv871919 1 11706071 11826663 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530417 S 6533 0 1 AGTRAP,CLCN6,MTHFR,NPPA-AS1 MS10311 nsv870510 1 11720346 11732784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506951 S 6533 1 0 AGTRAP SP54442 nsv871561 1 11725021 11732784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506982 S 6533 1 0 AGTRAP SP54448 dgv141n71 1 11737218 11778965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871826,nsv870631 M 6533 0 2 MTHFR MS16153,SP54956 nsv518652 1 11780298 11785365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696101 S 2026 0 1 MTHFR esv2280942 1 11812152 11812473 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641147 S 1 0 1 CLCN6 NA18507 nsv527521 1 11823412 11832101 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 11851417 11851482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669294,nssv681416,nssv656721,nssv673526,nssv653897,nssv652751,nssv690321 M 2026 0 7 "" dgv142n71 1 11851482 11923257 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871350,nsv871776,nsv870866 M 6533 0 3 KIAA2013,PLOD1 IS32322,IS38176,MS18276 nsv870926 1 11859991 11954617 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530418 S 6533 0 1 KIAA2013,PLOD1 MS10311 nsv870723 1 11881803 11917763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511311 S 6533 0 1 KIAA2013,PLOD1 SP55021 nsv828475 1 11912209 11915865 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423944 S 31 0 1 "" NA18582 esv22435 1 11912455 11916071 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16673 S 451 0 1 "" NA12414 esv27905 1 11953358 11954096 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 nsv870502 1 11966751 12035307 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585783 S 6533 0 1 MFN2,MIIP IS37646 nsv470693 1 11973221 12038278 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 nsv871917 1 11976617 12004921 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519546 S 6533 0 1 MFN2,MIIP SP81085 esv268997 1 11988806 11989196 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 nsv469830 1 12022313 12182502 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649851 M 265 0 0 Samples from several populations that are part of the HapMap project. MIR4632,TNFRSF1B,TNFRSF8 esv6101 1 12045141 12045477 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28542 S 1 0 1 "" SJK nsv466060 1 12052638 12064048 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541698 S 1557 0 1 TNFRSF8 1780862021_A nsv525898 1 12064048 12091110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702102 S 2026 0 1 TNFRSF8 esv1290308 1 12072780 12072878 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317882 S 2 0 1 TNFRSF8 HuRef nsv508891 1 12080564 12217689 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 nsv820293 1 12126165 12126349 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419048 S 2 0 1 TNFRSF8 AK1 nsv471622 1 12137851 12354230 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550319,nssv550325,nssv550330,nssv550326,nssv550318,nssv550343,nssv550324,nssv550321,nssv550322,nssv550327,nssv550323,nssv550336,nssv550338,nssv550328,nssv550332,nssv550341,nssv550337,nssv550342,nssv550339,nssv550333,nssv550335,nssv550334,nssv550340,nssv550329,nssv550331,nssv550320 M 48 1 25 MIR4632,TNFRSF1B,VPS13D NA10492,NA10494,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11776,NA15724,NA15725,NA15726,NA15727,NA15728,NA15730,NA15732,NA15733,NA16688,NA17014,NA17015,NA17017,NA17020,NA17051,NA17052,NA17059,P86GA dgv143n71 1 12146826 12171607 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871542,nsv871802 M 6533 2 0 TNFRSF1B SP54381,SP54650 nsv527024 1 12146826 12189852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703399 S 2026 0 1 MIR4632,TNFRSF1B nsv870819 1 12156341 12189852 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506952,nssv1506983 M 6533 2 0 MIR4632,TNFRSF1B SP54442,SP54448 nsv871005 1 12165045 12168762 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500665 S 6533 1 0 TNFRSF1B SP50179 dgv144n71 1 12165045 12174072 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871623,nsv871185,nsv871782,nsv871267 M 6533 0 5 TNFRSF1B SP50159,SP50908,SP54782,SP56874,SP80957 nsv871537 1 12165380 12168762 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512369 S 6533 0 1 TNFRSF1B SP55465 nsv871714 1 12169715 12186810 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509725 S 6533 0 1 MIR4632,TNFRSF1B SP54956 esv275384 1 12276894 12279663 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585374 S 1250 0 1 VPS13D nsv517848 1 12296335 12564830 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 12315193 12360087 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 12393279 12438696 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 nsv528439 1 12425014 12429547 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705034 S 2026 0 1 VPS13D nsv817617 1 12431530 12456055 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417810 S 112 0 1 VPS13D NA18853 essv17144 1 12521755 12753683 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 12521755 13749642 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17525,essv1738,essv4439,essv21792,essv3141,essv19269,esv631,essv15250,essv4720,essv24139 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 12522009 12607424 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694501 S 2026 0 1 DHRS3 nsv871052 1 12525566 12586361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546447 S 6533 0 1 DHRS3 MS17208 nsv466172 1 12547688 12592983 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541787 S 1557 0 1 DHRS3 NINDS_71 nsv466283 1 12547688 12607424 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 dgv145n71 1 12555342 12632141 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870676,nsv870568,nsv871922 M 6533 3 0 AADACL4,DHRS3 SP52559,SP53518,SP57873 nsv870867 1 12564830 12612279 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523779 S 6533 1 0 DHRS3 SP54191 dgv21e1 1 12596978 13052721 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2582,essv13601,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 12596978 13667714 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454165,nssv454221,nssv454176,nssv454154,nssv454243,nssv453130,nssv454232 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 nsv871219 1 12615712 12697586 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520366 S 6533 1 0 AADACL4 SP50830 nsv515525 1 12641798 12645771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691346,nssv687835,nssv663825,nssv655876 M 2026 0 4 AADACL4 nsv8657 1 12665734 12670547 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12449,nssv28045 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18853,NA19173 esv1936135 1 12665880 12669324 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851711 S 1 0 1 "" NA18507 esv259758 1 12669189 12674742 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394724,essv2396569,essv2399336,essv2395741 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18507,NA18522,NA18853 nsv466394 1 12697586 12836483 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 nsv871119 1 12702205 12769266 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520367 S 6533 1 0 AADACL3,C1orf158,PRAMEF12 SP50830 essv3598 1 12710993 12846549 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 12710993 13749642 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21921,essv21630,essv22720,essv12911,essv18416,essv22442,essv1381,essv8779,essv6526,essv6322,essv15030,essv2742,essv23457,essv24831,essv6145,essv22789,essv2050,essv10475,essv11698,essv12773,essv18517,essv21902,essv17868,essv4342,essv9820,essv18896,essv17159,essv22676,essv20489,essv16214,essv22849,essv22686,essv938,essv2428,essv18563,essv19111,essv2697,essv23267,essv4016 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 dgv146n71 1 12717537 12845198 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871589,nsv871711,nsv871523 M 6533 3 0 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 IS30213,IS30319,IS33553 nsv832869 1 12730060 12941777 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 nsv871047 1 12733155 12765587 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540573 S 6533 1 0 C1orf158,PRAMEF12 MS14919 dgv23e1 1 12741650 12846549 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 12743457 12836482 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547700,nssv547703,nssv547699,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 12743457 12836483 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 esv993047 1 12744887 12745098 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566471 S 3 0 1 "" HuRef dgv24e1 1 12745698 13052721 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17827,essv3731,essv5244,essv14768,essv11557,essv13702,essv14054,essv2857 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 dgv147n71 1 12746810 13614119 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871295,nsv870983,nsv871441 M 6533 3 0 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 IS31563,IS39243,MS17114 dgv5n27 1 12756840 12836483 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466505,nsv466727 M 1557 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1798860570_A,HGDP00007 dgv148n71 1 12758455 12793914 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870781,nsv870894 M 6533 0 7 PRAMEF1,PRAMEF12 IS30035,IS30165,IS37605,IS40103,MS12551,MS17580,SP58031 nsv871936 1 12758455 12810136 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523691 S 6533 1 0 PRAMEF1,PRAMEF11,PRAMEF12 SP54139 dgv6n27 1 12758455 12836483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466949,nsv466616,nsv466838 M 1557 0 3 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1780862077_A,HGDP00952,HGDP01366 dgv149n71 1 12758455 12962685 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871465,nsv871665,nsv870729,nsv871206,nsv871534,nsv870895 M 6533 6 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 IS37226,IS41045,IS41786,MS12466,MS15048,MS17056 nsv517190 1 12758455 13648417 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685626,nssv655601,nssv675460,nssv655298,nssv677999,nssv688922,nssv664467,nssv689950,nssv670301,nssv676168,nssv685508,nssv668984,nssv674582,nssv662916,nssv651901,nssv670769,nssv662340,nssv674765,nssv659765,nssv654351,nssv662505,nssv669367,nssv658961,nssv659462,nssv660425,nssv682789,nssv656069,nssv664297,nssv680385,nssv690595,nssv652682,nssv683316,nssv678527,nssv669316,nssv688196,nssv658218,nssv684041,nssv681069,nssv659030,nssv675328,nssv687198,nssv671841,nssv680570,nssv652055,nssv675204,nssv690145,nssv692088,nssv666273,nssv660265,nssv678613,nssv664702,nssv702090,nssv705370,nssv691789,nssv692526,nssv670277,nssv680870,nssv676529,nssv660049,nssv663203,nssv688182,nssv665485,nssv678933,nssv681241,nssv688036,nssv662290,nssv659477,nssv680419,nssv654248,nssv677586,nssv668625,nssv653971,nssv676136,nssv672363,nssv652446,nssv676530,nssv688711,nssv661007,nssv660725,nssv658040,nssv663875,nssv655162,nssv683850,nssv681352,nssv687685,nssv672026,nssv674814,nssv684928,nssv680445,nssv687277,nssv658370 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 nsv821559 1 12762564 12815652 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421068 S 1 1 0 PRAMEF1,PRAMEF11 NA10851 dgv13n67 1 12762564 12832142 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828697,nsv828586 M 31 0 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 AK20,NA18969 nsv471539 1 12762846 12787958 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 nssv547949,nssv547950,nssv547951 M 3 PRAMEF1 esv28644 1 12763195 12975525 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 36 11 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 12764394 12873662 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586626 S 3 1 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF4 HuRef esv2421662 1 12764515 12894420 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5129922,essv5073546,essv5128528,essv5003555,essv5022261,essv5134010,essv5138370,essv5051593,essv5012238,essv5053532,essv5117560,essv5131081,essv5102370,essv5139478,essv5116203,essv5114531,essv5102257,essv5039373,essv5159266,essv5066353,essv5018867,essv5109420,essv5132926,essv5084483,essv5067055,essv5027197,essv5009774,essv5106036,essv5122638,essv5102044,essv5133462,essv5038349,essv5143438,essv5017667,essv5009132,essv5072990,essv5104297,essv5030453,essv5121017,essv5053293,essv5057726,essv5089601,essv5041350,essv5115549,essv5159736,essv5140930,essv5040953,essv5038935,essv5065514,essv5140420,essv5098485,essv5034347,essv5077663,essv5024400,essv5061766,essv5023516,essv5109345,essv5115604,essv5098165,essv5013828,essv5025654,essv5122668,essv5082781,essv5074962,essv5029580,essv5089177,essv5006338,essv5116223,essv5064090,essv5018478,essv5109453,essv5068309,essv5048343,essv5050218,essv5098033,essv5049008,essv5061594,essv5107947,essv5040928,essv5120396,essv5150257,essv5088719,essv5024352,essv5124804,essv5111327,essv5144838,essv5018496,essv5059824,essv5097924,essv5116865 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 dgv150n71 1 12765587 12793914 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871208,nsv871761,nsv871960 M 6533 0 10 PRAMEF1 IS36955,IS37030,IS40319,MS26123,SP50713,SP51279,SP53803,SP53994,SP55851,SP81557 nsv871497 1 12765587 12810136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524224,nssv1563722,nssv1563190 M 6533 0 3 PRAMEF1,PRAMEF11 IS30054,MS25891,SP54921 nsv442270 1 12768450 12805683 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF1 nsv8768 1 12768742 13390175 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28033,nssv28927,nssv12763,nssv26890,nssv13763,nssv13429,nssv12429,nssv11777,nssv11770,nssv12765,nssv28032,nssv28560,nssv11763,nssv28539,nssv14093,nssv14083,nssv26901,nssv11769,nssv28546,nssv29259,nssv29274,nssv28944,nssv29262,nssv28043,nssv12113,nssv12754,nssv28933,nssv29268,nssv12093,nssv28945,nssv14099,nssv11771,nssv11774,nssv28056,nssv28543,nssv28938,nssv13769,nssv13099,nssv15113,nssv12099,nssv28047,nssv29264,nssv12108,nssv11780,nssv28554,nssv26891,nssv14429,nssv29258,nssv28941,nssv28040,nssv13423,nssv28923,nssv12109,nssv11772,nssv12773,nssv28553,nssv28559,nssv29275,nssv12438,nssv12435,nssv12433,nssv13098,nssv28929,nssv21451,nssv28557,nssv12779,nssv28039,nssv29256,nssv26880,nssv12437,nssv12101,nssv26898,nssv12426,nssv26895,nssv28934,nssv13428,nssv12424,nssv26878,nssv26883,nssv29250,nssv28937,nssv28041,nssv13109,nssv11776,nssv28544,nssv29269,nssv28931,nssv11766,nssv28550,nssv13744,nssv28051,nssv12112,nssv28549,nssv11791,nssv13433,nssv28556,nssv28948,nssv28042,nssv29266,nssv21427,nssv11778,nssv28936,nssv12450,nssv12443,nssv28555,nssv24616,nssv12120,nssv28551,nssv12121,nssv29257,nssv26899,nssv28947,nssv12105,nssv28541,nssv28036,nssv28035,nssv11782,nssv28920,nssv12096,nssv29278,nssv28547,nssv13084,nssv14074,nssv11775,nssv12439,nssv11762,nssv24599,nssv29265,nssv29267,nssv28531,nssv12767,nssv28545,nssv12092,nssv28928,nssv28943,nssv29249,nssv13103,nssv28935,nssv24598,nssv13093,nssv28919,nssv28049,nssv13753,nssv12107,nssv12094,nssv28053,nssv29277,nssv28939,nssv14423,nssv11779,nssv13439,nssv11781,nssv12111,nssv12769,nssv29271,nssv11764,nssv11783,nssv12422,nssv24622,nssv13414,nssv29263,nssv11790,nssv12768,nssv29253,nssv14753,nssv12752,nssv26881,nssv26904,nssv26897,nssv28540,nssv12103,nssv28932,nssv12780,nssv12441,nssv28050,nssv29261 M 31 30 19 Samples from several populations that are part of the HapMap project. HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,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 12769321 12842627 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829030,nsv828808 M 31 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 AK2,NA18997 esv32750 1 12769531 13065155 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 dgv151n71 1 12769585 12848958 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870685,nsv871477,nsv871670,nsv871746,nsv871479,nsv871235 M 6533 0 8 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 IS40757,MS19289,MS20987,MS21737,SP51082,SP51218,SP55077,SP55699 dgv152n71 1 12771679 12810136 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871196,nsv871302,nsv871207 M 6533 58 74 PRAMEF1,PRAMEF11 IS30539,IS30653,IS32523,IS32714,IS33460,IS33508,IS33651,IS33691,IS33868,IS33890,IS34051,IS34381,IS35704,IS35824,IS35846,IS36887,IS37064,IS37293,IS38050,IS38098,IS38146,IS38304,IS38394,IS38416,IS38479,IS38617,IS38634,IS38669,IS39625,IS39931,IS40005,IS40029,IS40237,IS40239,IS40329,IS40520,IS40556,IS40769,IS40843,IS41051,IS41340,IS41920,MS10638,MS10682,MS10685,MS10867,MS11084,MS11886,MS12018,MS12055,MS12244,MS12624,MS12662,MS12722,MS12785,MS13045,MS13253,MS13712,MS14872,MS14978,MS15060,MS15090,MS15502,MS15528,MS15601,MS15715,MS15737,MS16192,MS16467,MS16801,MS17255,MS17508,MS18149,MS18465,MS19177,MS19358,MS19503,MS19533,MS19886,MS20785,MS21465,MS21677,MS22454,MS22854,MS23210,MS23541,MS23770,MS23958,MS24357,MS24405,MS25471,MS25756,MS25842,MS25902,SP50032,SP50580,SP50592,SP50612,SP50791,SP51062,SP51104,SP51221,SP51380,SP51389,SP51398,SP52409,SP52553,SP52872,SP52933,SP53023,SP53449,SP53625,SP54405,SP54937,SP55842,SP56079,SP56350,SP56757,SP56927,SP57401,SP58141,SP58168,SP58404,SP80937,SP81019,SP81127,SP81243,SP81260,SP81275,SP81347,SP81363,SP81387 dgv153n71 1 12771679 12814937 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871281,nsv870905,nsv871280,nsv870524 M 6533 5 0 PRAMEF1,PRAMEF11 IS38152,SP51108,SP54684,SP55056,SP57610 dgv154n71 1 12771679 12821018 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870778,nsv871870 M 6533 7 0 PRAMEF1,PRAMEF11 IS32361,MS19454,MS19955,MS22104,MS24732,MS24873,SP54958 dgv155n71 1 12771679 12845198 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871414,nsv870823,nsv871734,nsv870924,nsv870782,nsv871622,nsv870703 M 6533 46 69 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 IS30467,IS30814,IS31098,IS31346,IS33304,IS33705,IS34374,IS34543,IS35018,IS35088,IS35299,IS35312,IS35342,IS35378,IS35802,IS35910,IS35982,IS36049,IS36752,IS37044,IS37753,IS38054,IS38055,IS38060,IS38170,IS38210,IS38267,IS38336,IS38380,IS38430,IS38589,IS40188,IS40326,IS40333,IS40373,IS40557,IS40838,IS40940,IS41894,MS10166,MS10386,MS11078,MS11165,MS11558,MS11980,MS12045,MS12092,MS12196,MS12331,MS12938,MS13561,MS13693,MS13694,MS14848,MS14943,MS14971,MS15103,MS15175,MS15383,MS15509,MS15682,MS15804,MS16559,MS16709,MS17380,MS18175,MS19365,MS19420,MS19858,MS20640,MS20725,MS20891,MS21124,MS21130,MS22678,MS23796,MS23811,MS23868,MS24260,MS24672,MS24769,SP50076,SP50653,SP51411,SP52376,SP52393,SP52493,SP52625,SP52634,SP53242,SP53643,SP54026,SP54442,SP54489,SP54626,SP54636,SP54665,SP54753,SP54803,SP54885,SP54952,SP55423,SP55937,SP56126,SP56173,SP56395,SP56731,SP56788,SP56845,SP56870,SP56899,SP56938,SP81146,SP81149,SP81501 dgv156n71 1 12771679 12845198 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871827,nsv871190,nsv871638,nsv870956,nsv870927 M 6533 8 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 IS38409,IS40799,MS14336,MS16128,MS20784,MS24935,SP52318,SP56766 dgv157n71 1 12771679 12861980 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871283,nsv871890 M 6533 6 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF4 IS34108,IS40145,IS40819,IS41243,MS17788,MS21315,MS22231,MS23670 dgv158n71 1 12771679 12886477 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871442,nsv870728 M 6533 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 MS15525,SP56084 nsv871956 1 12773129 12868842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500652 S 6533 0 1 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF4 SP50156 dgv159n71 1 12775335 12937470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870860,nsv870786,nsv871715,nsv871624,nsv871390 M 6533 0 5 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 IS38184,MS12630,MS25675,SP53803,SP80982 nsv870617 1 12775459 12793914 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507138 S 6533 0 1 PRAMEF1 SP54478 dgv15n67 1 12776279 12820751 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828919,nsv829141 M 31 0 2 PRAMEF1,PRAMEF11 AK6,NA18951 dgv160n71 1 12777429 12795459 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871091,nsv871358 M 6533 4 0 PRAMEF1 IS35100,MS18195,MS23577,MS25747 nsv870688 1 12777429 12800942 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521101,nssv1585373,nssv1502080,nssv1527114,nssv1505111 M 6533 2 3 PRAMEF1 IS37428,SP51031,SP52193,SP53060,SP58166 dgv25e1 1 12778733 12846549 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6560,essv2359,essv1080,essv973,essv9557,essv5619,essv1569 M 271 0 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 NA18593,NA18624,NA18861,NA18981,NA18990,NA18995,NA18997 nsv438192 1 12783336 12790824 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468518,nssv468629 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19101,NA19103 dgv7n27 1 12783336 12802943 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467505,nsv467283,nsv467394,nsv467171 M 1557 0 4 "" HGDP00702,HGDP00999,HGDP01254,HGDP01269 nsv470696 1 12783336 12836482 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547708,nssv547705,nssv547707,nssv547706,nssv547704 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 12783336 12836483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460339,nsv456440,nsv460039,nsv460006,nsv455885,nsv459662,nsv468505,nsv460317,nsv458996,nsv459440,nsv460195,nsv456551,nsv458773,nsv456218,nsv460150,nsv467616,nsv460328,nsv460173,nsv458329,nsv460250,nsv456107,nsv460084,nsv460028,nsv459329,nsv459107,nsv460073,nsv460206,nsv459218,nsv460217,nsv460128,nsv460261,nsv460117,nsv460228,nsv456329,nsv469171,nsv468616,nsv460095,nsv456996,nsv460139,nsv457662,nsv460295,nsv467727,nsv460306,nsv458440,nsv460184,nsv460017,nsv468838,nsv459551,nsv457440,nsv456885,nsv455774,nsv458551,nsv457996,nsv460284,nsv455996,nsv457773,nsv457218,nsv460050,nsv458107,nsv460239,nsv460161,nsv457885,nsv457551,nsv460062,nsv468727,nsv456774,nsv458884,nsv469393,nsv458662,nsv456662,nsv457329 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 12783336 12836483 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459939,nsv467949,nsv459995,nsv468171,nsv455663,nsv469060,nsv459973,nsv459951,nsv458218,nsv457107,nsv460272,nsv459962,nsv459773,nsv468282,nsv459884,nsv468949,nsv459984,nsv468060,nsv460106,nsv468394,nsv469282,nsv467838 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 12783336 12836483 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417408,nssv1418336,nssv1418245,nssv1418338,nssv1418244,nssv1417095 M 112 4 2 HNRNPCL1,LOC649330,PRAMEF11 NA10847,NA12239,NA18529,NA18951,NA19092,NA19094 nsv870489 1 12783436 12810136 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541668,nssv1504262,nssv1529956,nssv1521898 M 6533 3 1 PRAMEF11 MS10127,MS15427,SP52390,SP52627 dgv1n64 1 12788507 12836483 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817839,nsv818045,nsv817950 M 112 0 6 HNRNPCL1,LOC649330,PRAMEF11 NA10857,NA12044,NA12865,NA12874,NA18593,NA18965 nsv829252 1 12789721 12790323 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440800 S 31 0 1 "" NA18969 nsv871633 1 12790824 12836483 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548483 S 6533 1 0 HNRNPCL1,LOC649330,PRAMEF11 MS17869 dgv161n71 1 12790824 12848958 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870484,nsv871891,nsv871549,nsv871783,nsv870580,nsv871362,nsv870941,nsv871543 M 6533 0 48 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 IS30035,IS30134,IS34111,IS34393,IS34970,IS35053,IS35439,IS37030,IS37993,IS38064,IS38093,IS38108,IS38179,IS39832,IS40205,IS40292,IS40812,IS40854,IS41672,MS11243,MS12727,MS13957,MS14354,MS14786,MS15545,MS15826,MS17580,MS17677,MS17751,MS19917,MS21532,MS21937,MS23356,MS23401,MS23495,MS23626,MS23865,MS24223,MS26123,SP50137,SP50870,SP52003,SP53857,SP54478,SP55663,SP55851,SP56949,SP57322 nsv2965 1 12793128 13108493 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5045,nssv10340,nssv3620,nssv9308 M 9 0 4 HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12878,NA18517,NA18956,NA19129 nsv829363 1 12793527 12795558 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440801 S 31 0 1 "" NA18969 esv1063166 1 12798812 12798812 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300681 S 2 1 0 "" HuRef nsv871161 1 12800942 12845198 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526795,nssv1548842,nssv1581800,nssv1523252,nssv1563335,nssv1584270,nssv1533477,nssv1528077,nssv1590647,nssv1556866,nssv1595330,nssv1526652,nssv1564575,nssv1527190,nssv1531372,nssv1591939,nssv1586684,nssv1547707,nssv1584300,nssv1523374,nssv1564495,nssv1533687,nssv1555798,nssv1582681 M 6533 1 23 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 IS30224,IS30243,IS35728,IS36086,IS36939,IS36963,IS37946,IS38544,IS39102,IS40227,MS10413,MS11199,MS11273,MS17522,MS17879,MS21626,MS22245,MS25966,SP53838,SP53998,SP57700,SP57831,SP58236,SP81120 nsv7172 1 12802281 13249729 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9625,nssv5133,nssv5286,nssv6080,nssv3714,nssv10379,nssv7060,nssv7150,nssv9329,nssv10403,nssv11101,nssv11168,nssv5213,nssv382,nssv2496,nssv9624 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 12802740 12836483 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 nsv433182 1 12802943 12883614 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 nsv871065 1 12805718 12861980 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518092,nssv1547151 M 6533 2 0 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2,PRAMEF4 MS17216,SP57463 dgv162n71 1 12805718 13122944 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871450,nsv870918,nsv870797,nsv871106,nsv871849 M 6533 0 5 HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 IS30165,IS35018,SP54532,SP55764,SP57078 nsv870584 1 12814937 12845198 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505147,nssv1505715,nssv1517040,nssv1508674,nssv1508627,nssv1516189,nssv1516541,nssv1512222,nssv1512531 M 6533 5 4 HNRNPCL1,LOC649330,PRAMEF2 SP53276,SP53883,SP54607,SP54725,SP55346,SP55551,SP56518,SP56856,SP57067 nsv820528 1 12815653 12969918 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 nsv436469 1 12815837 12871344 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 dgv16n67 1 12820351 12842775 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829437,nsv829426,nsv829459,nsv829448 M 31 7 0 HNRNPCL1,LOC649330,PRAMEF2 AK10,NA18526,NA18564,NA18570,NA18947,NA18949,NA18972 nsv819147 1 12826587 13093905 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418797 S 2 1 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 AK1 nsv821616 1 12826893 13583802 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421290,nssv1421363,nssv1421352,nssv1421179,nssv1421374,nssv1421341 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 nsv442514 1 12831824 12849694 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF2 dgv163n71 1 12831826 12870150 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871099,nsv871402 M 6533 2 0 PRAMEF2,PRAMEF4 SP55401,SP56114 essv24011 1 12833683 12846549 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 12833787 12836483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460406,nsv460439,nsv460461,nsv460428,nsv460472,nsv460361,nsv460372,nsv460383,nsv460450,nsv460417,nsv460395 M 1557 0 11 "" HGDP00467,HGDP00541,HGDP00702,HGDP00832,HGDP00837,HGDP00846,HGDP00849,HGDP00876,HGDP00984,HGDP00995,HGDP00999 dgv164n71 1 12841261 12937470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870903,nsv871839,nsv871784 M 6533 0 5 PRAMEF10,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 IS30284,IS36955,IS40635,MS17580,SP81557 dgv165n71 1 12870150 12937470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870999,nsv871403,nsv871754,nsv870708 M 6533 0 8 PRAMEF10,PRAMEF6,PRAMEF7,PRAMEF8 IS33455,MS10626,MS10720,MS17808,SP54478,SP54776,SP56899,SP81263 dgv166n71 1 12904368 13083632 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871544,nsv870609,nsv871509,nsv870916,nsv871006,nsv871963,nsv871454 M 6533 0 16 PRAMEF22,PRAMEF5,PRAMEF6 IS30325,IS33605,IS38106,MS10183,MS10413,MS13390,MS13444,MS15392,MS23811,SP50612,SP51279,SP54489,SP54648,SP55160,SP57604,SP58310 nsv508902 1 12920626 13058533 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 12920626 13521717 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621649,nssv624358 M 4 0 0 LOC440563,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA15510,NA18994 esv1004322 1 12920968 12975585 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586195 S 3 1 0 PRAMEF22,PRAMEF6 HuRef nsv870811 1 12924515 13083632 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582156,nssv1525680 M 6533 1 1 PRAMEF22,PRAMEF5,PRAMEF6 IS35802,SP56769 dgv167n71 1 12926001 13205019 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870525,nsv871892 M 6533 0 2 LOC440563,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6 IS34358,MS22930 nsv433183 1 12937471 13110000 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 nsv821036 1 12969919 12975525 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419992 S 1 1 0 "" NA10851 nsv871466 1 12973925 13122944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583680 S 6533 1 0 LOC440563,PRAMEF5 IS36581 nsv871687 1 12973925 13205019 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576627 S 6533 1 0 LOC440563,PRAMEF22,PRAMEF3,PRAMEF5 IS34185 esv1010773 1 13025586 13047004 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586120 S 3 1 0 PRAMEF5 HuRef nsv820886 1 13025610 13071008 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420103 S 1 0 1 PRAMEF5 NA10851 esv27872 1 13025610 13142282 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 14 6 LOC440563,PRAMEF5 NA11894,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12878,NA18517,NA18523,NA18858,NA18861,NA19099,NA19108,NA19129,NA19190,NA19225 nsv871634 1 13033963 13662137 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520368 S 6533 1 0 LOC440563,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 SP50830 dgv168n71 1 13036311 13388933 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871157,nsv871923 M 6533 2 0 LOC440563,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 IS38162,IS41883 nsv870885 1 13044363 13247274 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517448 S 6533 0 1 LOC440563,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6 SP57274 dgv17n67 1 13065132 13110757 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829470,nsv829492,nsv829481 M 31 6 0 LOC440563 AK4,AK8,NA18564,NA18566,NA18592,NA18947 nsv112 1 13082358 13084889 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv112 S 1 1 0 "" NA15510 nsv821333 1 13084311 13142282 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420214 S 1 1 0 LOC440563 NA10851 esv8453 1 13101672 13110159 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30894 S 1 0 1 LOC440563 SJK esv987716 1 13134493 13142499 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586238 S 3 1 0 "" HuRef esv1000242 1 13192500 13241441 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586500 S 3 1 0 PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6 HuRef esv25471 1 13192634 13372033 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 34 11 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 nsv832981 1 13202753 13389999 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442807 S 95 0 1 PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 nsv511155 1 13212653 13218406 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626055 S 1 0 1 "" 1 nsv821207 1 13219599 13301979 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420225 S 1 0 1 PRAMEF15,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA10851 nsv871291 1 13252464 13557988 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586518 S 6533 1 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 IS37848 esv1001235 1 13289638 13347927 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586342 S 3 1 0 PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef nsv442562 1 13317495 13340609 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF14 esv1751185 1 13341076 13341129 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633436 S 2 0 1 "" HuRef nsv8879 1 13392625 13404986 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 nsv8991 1 13419392 13622373 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13757,nssv28924,nssv14087,nssv12444,nssv29272,nssv14419,nssv14418,nssv11784,nssv13095,nssv12106,nssv14748,nssv13425,nssv14759,nssv12423,nssv12756,nssv12431,nssv12100,nssv16433,nssv28536,nssv11788,nssv15108,nssv13097,nssv13755,nssv12114,nssv12432,nssv12434,nssv12102,nssv12436,nssv12442,nssv13759,nssv12771,nssv28534,nssv12764,nssv13094,nssv15773,nssv12104,nssv13111,nssv13101,nssv13758,nssv11787,nssv12451,nssv12430,nssv12781,nssv14413,nssv14404,nssv15443,nssv14089,nssv12759,nssv14088,nssv28942,nssv13082,nssv13412,nssv12110,nssv14743,nssv15094,nssv13110,nssv13440,nssv13427,nssv28537,nssv16103,nssv14734,nssv12760,nssv15119,nssv12774,nssv29273,nssv11786,nssv28925 M 31 30 7 Samples from several populations that are part of the HapMap project. PRAMEF13,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 nsv871425 1 13421561 13548583 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544023 S 6533 1 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 MS16211 nsv870544 1 13421561 13587131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540747 S 6533 0 1 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF7,PRAMEF8,PRAMEF9 MS15014 nsv508137 1 13423878 13644737 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 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 NA10860 esv24967 1 13426574 13429455 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 nsv820708 1 13479789 13525723 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420236 S 1 0 1 PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 NA10851 esv29915 1 13479789 13595707 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 5 PRAMEF13,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 dgv169n71 1 13480743 13592320 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871777,nsv871149 M 6533 0 2 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF7,PRAMEF8,PRAMEF9 MS11361,MS22886 nsv871611 1 13500580 13614119 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558325 S 6533 1 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF9 MS23210 esv987523 1 13509546 13569151 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586687 S 3 1 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef nsv871524 1 13542778 13592320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511989 S 6533 0 1 PRAMEF13,PRAMEF14,PRAMEF17,PRAMEF18,PRAMEF19 SP55223 nsv9102 1 13635069 13654782 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13441,nssv12762,nssv15449,nssv13770,nssv13431 M 31 1 4 Samples from several populations that are part of the HapMap project. "" NA18502,NA18860,NA19173,NA19221,NA19240 nsv871035 1 13645076 13953335 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558615 S 6533 1 0 LRRC38,PDPN,PRDM2 MS23423 esv27160 1 13646671 13650046 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 13646704 13647506 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425488 S 31 1 0 "" AK4 esv2421816 1 13647613 13649415 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5088842,essv5051994,essv5078655,essv5029052,essv5136291,essv5074912,essv5058297,essv5047739,essv5103764,essv5154357,essv5038344,essv5156754,essv5070195,essv5138283,essv5145851,essv5160977,essv5014986,essv5124207,essv5133703,essv5037812,essv5154618,essv5053308,essv5146662,essv5054130,essv5113890,essv5113231,essv5152549,essv5055935,essv5089793,essv5115047,essv5043697,essv5153368,essv5113057,essv5119368,essv5115799,essv5153639,essv5116299,essv5130030,essv5113322,essv5054861,essv5040208,essv5087732,essv5062851,essv5089820,essv5119297,essv5037910,essv5140759,essv5149288,essv5084227,essv5063651,essv5003662,essv5052409,essv5101761,essv5101907,essv5104141,essv5068630,essv5130729,essv5119113,essv5085452,essv5059200,essv5130132,essv5154171,essv5129509,essv5141839,essv5008201,essv5081621,essv5159320,essv5122714,essv5057582,essv5093159,essv5012309,essv5020433,essv5148013,essv5112792,essv5078647,essv5030554,essv5019707,essv5022297,essv5152519 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 nsv870787 1 13655941 13694622 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558412 S 6533 1 0 LRRC38 MS23257 esv2504117 1 13668926 13669517 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309749 S 1 1 0 "" NA18507 nsv833092 1 13677506 13836511 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442829,nssv1442818 M 95 0 2 LRRC38,PDPN nsv518971 1 13678626 13688708 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696439 S 2026 0 1 LRRC38 esv2376333 1 13721094 13721453 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939438 S 1 0 1 "" NA18507 esv1009061 1 13721194 13721194 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570627 S 3 1 0 "" HuRef esv2417844 1 13766904 13767355 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564737 S 1 0 1 "" NA18507 nsv460483 1 13776302 13789584 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537046 S 1557 0 1 PDPN 1780854159_A esv270520 1 13812578 13812935 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511920,essv2510686,essv2493308,essv2504204,essv2505998,essv2501024,essv2510822,essv2502129 M 157 8 0 Samples from several populations that are part of the HapMap project. PDPN NA18499,NA18501,NA18504,NA18505,NA18523,NA18856,NA19116,NA19257 nsv3076 1 13826780 13857121 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 13845837 13861814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704685 S 2026 0 1 "" esv1349671 1 13857506 13857506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353969 S 2 1 0 "" HuRef nsv523568 1 13864656 13877210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699350 S 2026 0 1 "" nsv3187 1 13864926 13910233 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 nsv871863 1 14011400 14100664 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558413 S 6533 1 0 PRDM2 MS23257 nsv871015 1 14032799 14086550 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593339 S 6533 1 0 "" IS39408 esv22539 1 14035627 14039603 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 nsv508007 1 14057508 14063508 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618491,nssv621465 M 4 0 2 "" CHM,NA15510 nsv516549 1 14081075 14081923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690011,nssv669085 M 2026 0 2 "" nsv870534 1 14104579 14259550 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593340 S 6533 1 0 "" IS39408 nsv516435 1 14157047 14159051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681150,nssv683301,nssv668340 M 2026 0 3 "" esv35099 1 14167192 14242955 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 14167906 14168414 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 14177669 14244987 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1095,essv9545,essv11300 M 271 0 0 "" NA18861,NA18863 esv27027 1 14184196 14244173 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 14186067 14243762 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700376 S 2026 1 0 "" nsv517840 1 14204527 14210431 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695245 S 2026 0 1 "" esv1011257 1 14213421 14222133 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563991 S 3 0 1 "" HuRef esv2573663 1 14308679 14311820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360365 S 1 0 1 "" NA18507 nsv819952 1 14308680 14311417 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419473 S 2 0 1 "" AK1 nsv829514 1 14308848 14309351 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431794 S 31 0 1 "" AK20 esv270235 1 14308870 14309072 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511449,essv2505102,essv2512440,essv2513178,essv2502516,essv2493382,essv2510523,essv2503037,essv2509677,essv2496486,essv2501176,essv2494717,essv2508926,essv2498301,essv2503314,essv2497288,essv2494540,essv2497116,essv2497750,essv2500052,essv2508300,essv2504521,essv2507862,essv2494465,essv2500085,essv2507683,essv2512691,essv2508440,essv2508702,essv2509972,essv2499321,essv2501622,essv2507498,essv2507109,essv2507423,essv2511639,essv2493069,essv2503738,essv2495147,essv2505681,essv2501390,essv2504784,essv2498982,essv2509519,essv2493549,essv2498673,essv2499721,essv2503604,essv2495758,essv2495048 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 esv22693 1 14308898 14311535 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 esv3429 1 14309627 14311615 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25870 S 1 0 1 Single Asian sample YH "" YH dgv18n67 1 14309636 14310701 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829537,nsv829525 M 31 0 2 "" NA18547,NA18949 nsv829548 1 14309636 14311391 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436328,nssv1422359,nssv1423396,nssv1434861,nssv1421444,nssv1423109,nssv1428816,nssv1423945,nssv1432008,nssv1440802,nssv1432529,nssv1431795,nssv1430332,nssv1434158,nssv1426373,nssv1431058,nssv1440119,nssv1437928,nssv1423978,nssv1433411 M 31 0 20 "" AK12,AK16,AK18,AK20,AK6,NA18526,NA18542,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 esv6543 1 14309668 14311526 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28984 S 1 0 1 "" SJK nsv528033 1 14413899 14418596 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704564 S 2026 0 1 "" nsv460494 1 14549496 14576441 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537055 S 1557 0 1 "" 1780862466_A nsv520614 1 14550316 14551313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697519 S 2026 0 1 "" nsv518697 1 14550316 14561294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696148 S 2026 0 1 "" nsv833203 1 14551787 14593526 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442885,nssv1442840,nssv1442852,nssv1442929,nssv1442896,nssv1442940,nssv1442863,nssv1442918,nssv1442907,nssv1442874 M 95 5 5 "" esv2617537 1 14611089 14612630 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289167 S 1 0 1 "" NA18507 nsv512719 1 14691762 14691812 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625344 S 1 1 0 "" 1 esv1086173 1 14713592 14713592 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139423 S 2 1 0 "" HuRef nsv833314 1 14771742 14941463 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 14779801 14854507 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 14784894 14812073 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 14832760 14917383 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 esv2637393 1 14851169 14852148 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269600 S 1 1 0 KAZN NA18507 esv1497348 1 14851595 14851595 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929982 S 2 1 0 KAZN HuRef nsv871585 1 14854507 14945201 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558414 S 6533 1 0 KAZN MS23257 nsv871843 1 14854507 14984514 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538828 S 6533 0 1 KAZN MS13777 nsv870604 1 14950154 14998801 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524751 S 6533 0 1 KAZN SP55209 esv8986 1 14986195 14986275 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31427 S 1 1 0 KAZN SJK esv1214811 1 15067050 15067050 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234331 S 2 1 0 KAZN HuRef nsv820102 1 15128849 15133915 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419679 S 2 1 0 KAZN AK1 esv23718 1 15147508 15152160 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 15149071 15151883 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KAZN esv27978 1 15199262 15199882 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 15213642 15214000 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697211 S 2026 0 1 KAZN nsv527648 1 15213642 15215681 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704119 S 2026 0 1 KAZN nsv517844 1 15213642 15216990 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695248 S 2026 0 1 KAZN nsv521566 1 15215681 15219950 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698183 S 2026 1 0 KAZN nsv871490 1 15225407 15261260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529777 S 6533 0 1 KAZN MS10123 dgv170n71 1 15233395 15278076 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871756,nsv871083 M 6533 0 2 KAZN MS13770,MS17208 esv22036 1 15237554 15238209 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 15237876 15237985 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577254 S 3 0 1 KAZN HuRef esv1748933 1 15237878 15237988 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823225 S 2 0 1 KAZN HuRef esv1186245 1 15238026 15238026 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944374 S 2 1 0 KAZN HuRef nsv870788 1 15241140 15297318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530419 S 6533 0 1 KAZN MS10311 esv2313486 1 15247610 15248022 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985131 S 1 0 1 KAZN NA18507 nsv833425 1 15282413 15490811 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 nsv508913 1 15291473 15364544 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 esv2618588 1 15309351 15309417 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193142 S 1 0 1 KAZN NA18507 esv22618 1 15328730 15333595 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 nsv437203 1 15360031 15362911 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 15361772 15362873 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TMEM51 nsv519926 1 15362404 15362471 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690383,nssv689561,nssv687857,nssv659518 M 2026 0 4 TMEM51 esv271128 1 15362689 15362774 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516145,essv2517814 M 157 2 0 Samples from several populations that are part of the HapMap project. TMEM51 NA12873,NA12878 esv273758 1 15362689 15362774 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 15373466 15383249 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178024 M 24 TMEM51 nsv460550 1 15391379 15423112 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 15402847 15423112 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 nsv871101 1 15404717 15442299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534675 S 6533 0 1 TMEM51 MS11726 esv2621292 1 15423576 15424577 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251821 S 1 1 0 "" NA18507 esv2423211 1 15429819 15431734 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345612 S 1 0 1 "" NA18507 esv28285 1 15448819 15450699 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 15453912 15454965 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 15458200 15466253 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654089,nssv691051,nssv669267,nssv678288 M 2026 4 0 FHAD1 esv2508152 1 15513246 15514137 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282605 S 1 1 0 FHAD1 NA18507 nsv833536 1 15522588 15727912 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442974,nssv1442985 M 95 0 2 CASP9,CELA2A,CELA2B,CTRC,DNAJC16,EFHD2,FHAD1 nsv460561 1 15559646 15622804 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537108 S 1557 0 1 EFHD2,FHAD1 NINDS_60 esv2117572 1 15644908 15645240 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687770 S 1 0 1 CTRC NA18507 nsv441683 1 15665011 15683808 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 15669395 15681459 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415732,nssv1415731 M 112 0 2 CELA2A,CELA2B NA12865,NA12875 esv29612 1 15785729 15786199 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18278 S 451 1 0 "" NA19240 nsv471769 1 15805560 15811009 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646050 M 0.128 95 "" esv259731 1 15817145 15819732 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395610 S 144 0 0 Samples from several populations that are part of the HapMap project. DDI2 NA18501 dgv171n71 1 15874175 15959751 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871400,nsv870635,nsv871913,nsv871528,nsv871635,nsv871724,nsv870501 M 6533 31 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 IS30039,IS30238,IS30244,IS30605,IS31679,IS32395,IS32761,IS33551,IS34515,IS34627,IS34630,IS34658,IS34770,IS35771,IS36077,IS36269,IS36458,IS37159,IS38265,IS38575,IS39026,IS39102,IS39527,IS39642,IS39788,IS40192,IS40267,IS41921,IS41949,MS14330,MS17665 nsv524044 1 15874175 16034423 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 15882131 15883977 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 dgv11n27 1 15888573 15967903 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460583,nsv460572 M 1557 2 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 HGDP00130,HGDP00160 dgv172n71 1 15900960 15954941 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871028,nsv871457,nsv870590 M 6533 7 0 PLEKHM2,SLC25A34,TMEM82 IS31909,IS33553,IS34700,IS35428,IS35572,IS37573,MS10959 nsv508925 1 15916178 16002655 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 dgv173n71 1 15920592 15969824 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871925,nsv871125,nsv871727 M 6533 0 3 FBLIM1,PLEKHM2,SLC25A34,TMEM82 IS33504,IS39233,SP54956 nsv871462 1 15920592 15983402 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543354,nssv1576251,nssv1577470 M 6533 1 2 FBLIM1,PLEKHM2,SLC25A34,TMEM82 IS34005,IS34468,MS16153 nsv871550 1 15920592 15995786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530420 S 6533 0 1 FBLIM1,PLEKHM2,SLC25A34,TMEM82 MS10311 nsv870503 1 15920592 16061268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546449 S 6533 0 1 FBLIM1,FLJ37453,PLEKHM2,SLC25A34,SPEN,TMEM82,UQCRHL MS17208 nsv460594 1 15948493 15998794 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537135 S 1557 0 1 FBLIM1 NINDS_70 nsv527046 1 15959847 15983402 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703422 S 2026 0 1 FBLIM1 nsv833647 1 15993124 16151416 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 nsv871162 1 15998794 16281504 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558415 S 6533 1 0 C1orf64,CLCNKA,CLCNKB,FAM131C,FLJ37453,HSPB7,SPEN,UQCRHL,ZBTB17 MS23257 dgv27e1 1 16000067 16027694 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv939,essv22007,essv19370 M 271 0 0 UQCRHL NA07019,NA12815 nsv3409 1 16009070 16051776 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 nsv511126 1 16021888 16034423 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626032 S 1 0 1 FLJ37453 1 nsv511677 1 16024357 16028385 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626315 S 1 0 1 "" 1 esv1010744 1 16024518 16030696 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564107 S 3 0 1 "" HuRef nsv498663 1 16024530 16028020 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585393 S 9 0 1 "" esv29597 1 16024861 16028089 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 16024864 16026544 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 "" nsv829559 1 16058573 16065542 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422361,nssv1428817,nssv1439448 M 31 0 3 SPEN AK12,NA18537,NA18552 esv22591 1 16082863 16086049 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 16114934 16380107 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619774,nssv619775 M 4 1 0 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,SPEN,ZBTB17 NA10860 dgv174n71 1 16132400 16455273 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871248,nsv871629 M 6533 0 2 ARHGEF19,C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,FBXO42,HSPB7,RSG1,SPEN,ZBTB17 MS10311,MS17208 nsv833758 1 16168110 16339601 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443007,nssv1443018 M 95 1 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,ZBTB17 nsv871695 1 16182875 16245711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585784 S 6533 0 1 C1orf64,CLCNKA,CLCNKB,HSPB7 IS37646 nsv517651 1 16204496 16253169 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674672,nssv674154,nssv673550,nssv698988,nssv673015,nssv683426,nssv666809,nssv680689,nssv655929,nssv654197,nssv688461,nssv683268,nssv692238,nssv674326,nssv701339,nssv687387,nssv692440,nssv653845,nssv672518,nssv667590,nssv653562,nssv661818,nssv678289,nssv680788,nssv664299,nssv669916,nssv670058,nssv700288,nssv663351,nssv664812,nssv685627,nssv659185,nssv669108,nssv673768,nssv701973,nssv687919,nssv656190,nssv675618,nssv668525,nssv669004,nssv656487 M 2026 5 36 C1orf64,CLCNKA,CLCNKB,HSPB7 dgv175n71 1 16204496 16265944 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871325,nsv871678 M 6533 2 0 C1orf64,CLCNKA,CLCNKB,FAM131C,HSPB7 IS37784,IS38430 dgv176n71 1 16204496 16286675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871209,nsv871626,nsv871582,nsv871757 M 6533 0 4 C1orf64,CLCNKA,CLCNKB,FAM131C,HSPB7 IS38403,IS39233,MS10123,MS15835 nsv520148 1 16204496 16338590 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 nsv871485 1 16204496 16386930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543355 S 6533 0 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 MS16153 nsv524045 1 16204496 16425359 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 dgv12n27 1 16213047 16240990 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460618,nsv460605 M 1557 0 2 CLCNKA,HSPB7 HGDP00525,HGDP00971 nsv460629 1 16213047 16253169 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 16213047 16269393 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 16219044 16249418 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460651,nsv460640 M 1557 2 0 CLCNKA,CLCNKB HGDP00906,HGDP00941 nsv870526 1 16219044 16265944 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538566 S 6533 0 1 CLCNKA,CLCNKB,FAM131C MS13770 esv25815 1 16219529 16263470 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 dgv2n64 1 16220999 16240911 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818078,nsv818067 M 112 5 0 CLCNKA NA19143,NA19172,NA19173,NA19193,NA19194 esv8597 1 16222373 16244282 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31038 S 1 0 1 CLCNKA,CLCNKB SJK dgv177n71 1 16230672 16340511 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871261,nsv871770,nsv871868 M 6533 0 4 CLCNKA,CLCNKB,EPHA2,FAM131C IS33162,IS33684,IS38388,IS40799 nsv829570 1 16231948 16276219 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426375 S 31 1 0 CLCNKA,CLCNKB,FAM131C AK6 esv2434454 1 16233712 16258094 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273432 S 1 0 1 CLCNKB,FAM131C NA18507 nsv511678 1 16234015 16256717 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626316 S 1 0 1 CLCNKB 1 esv995840 1 16234677 16257931 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574114 S 3 0 1 CLCNKB,FAM131C HuRef nsv436443 1 16235848 16256942 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 16236387 16261761 CNV Loss Ahn et al 2009 19470904 Sequencing esv5890,esv5593 M 1 0 1 CLCNKB,FAM131C SJK nsv871112 1 16236512 16265944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504782 S 6533 1 0 CLCNKB,FAM131C SP52729 esv32650 1 16236614 16262379 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 16240718 16251918 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CLCNKB esv6377 1 16249093 16258857 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28818 S 1 0 1 CLCNKB,FAM131C SJK esv1006289 1 16249104 16249104 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572231 S 3 1 0 CLCNKB HuRef esv1779187 1 16249105 16249105 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873209 S 2 1 0 CLCNKB HuRef nsv870466 1 16249540 16278749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509727 S 6533 0 1 CLCNKB,FAM131C SP54956 nsv870801 1 16269393 16378495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549606 S 6533 0 1 EPHA2,FAM131C MS18276 esv1072127 1 16293810 16293810 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733226 S 2 1 0 "" HuRef nsv833869 1 16309340 16477716 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 nsv871825 1 16315495 16402636 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585785 S 6533 0 1 ARHGEF19,EPHA2 IS37646 nsv870978 1 16327730 16455273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592096 S 6533 0 1 ARHGEF19,EPHA2,FBXO42,RSG1 IS39233 nsv470699 1 16338590 16403303 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 esv1258099 1 16363142 16363142 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037753 S 2 1 0 "" HuRef esv1271324 1 16365234 16365294 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655096 S 2 0 1 "" HuRef dgv2e180 1 16365251 16365322 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993479,esv993773 M 3 0 1 "" HuRef nsv3520 1 16420395 16454833 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 esv1036042 1 16510169 16510169 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767129 S 2 1 0 FBXO42 HuRef esv2618916 1 16512355 16512407 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350545 S 1 0 1 FBXO42 NA18507 nsv511679 1 16559188 16563537 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626317 S 1 0 1 "" 1 nsv829581 1 16621237 16627622 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421445 S 31 0 1 SPATA21 NA18997 esv1035588 1 16623300 16623300 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853896 S 2 1 0 SPATA21 HuRef dgv19n67 1 16623746 16627622 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829603,nsv829592 M 31 0 3 SPATA21 AK14,AK6,NA18969 dgv28e1 1 16636920 16998245 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2595,essv16154,essv4125,essv16669,essv15101,essv18376,essv3387,essv6723,essv4977,essv404,essv9940 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 16636920 17356568 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20767,essv1374,essv10302,essv2981,essv14148,essv16876,essv17478,essv11274,esv697,essv11570,essv10234,essv19098,essv20074,essv9815,essv8109,essv17163,essv7338,essv22395,essv11946,essv11626,essv2165 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 16636920 17356568 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454276,nssv454487,nssv454509,nssv454421,nssv454443,nssv454432,nssv454265,nssv454387,nssv454465,nssv454332,nssv454476,nssv454454,nssv454343,nssv454376,nssv454310,nssv454521,nssv454299,nssv454398,nssv454354,nssv454498,nssv454410,nssv454321,nssv454365 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 16638358 16809279 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833980,nsv834092 M 95 0 8 CROCCP3,MIR3675,NBPF1,NECAP2 nsv9213 1 16649604 16652120 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13424,nssv12118,nssv15103 M 31 0 3 Samples from several populations that are part of the HapMap project. NECAP2 NA18504,NA18517,NA19144 nsv9324 1 16669734 17153811 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14414,nssv14744,nssv13420,nssv13750,nssv16414,nssv16763,nssv12440,nssv13426,nssv14091,nssv14740,nssv17093,nssv15779,nssv13761,nssv12766,nssv13092,nssv28922,nssv13422,nssv12753,nssv13752,nssv13089,nssv14421,nssv12098,nssv16098,nssv13754,nssv15104,nssv11767,nssv13756,nssv14082,nssv13742,nssv13096,nssv14084,nssv13104,nssv29254,nssv13419,nssv12116,nssv14410,nssv15438,nssv11785,nssv14430,nssv15754,nssv14085,nssv17423,nssv29255,nssv12778,nssv12448,nssv13749,nssv13090,nssv14080,nssv12758,nssv14760,nssv14100,nssv15768,nssv11768,nssv15424,nssv12428,nssv14415,nssv16084,nssv12097 M 31 11 17 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 nsv870673 1 16671382 17055702 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561968 S 6533 1 0 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 MS25304 nsv436814 1 16678681 16822828 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 16681281 16902301 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 16681281 17215355 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9970,essv949,essv10181,essv12895,essv10959,essv7936,essv15194,essv7990,essv21574,essv8050,essv8586,essv13308,essv11038,essv14673,essv14235,essv8266,essv13252,essv8718,essv12447,essv9267,essv8984,essv15917,essv6477,essv6464,essv7960,essv16559,essv4644,essv12117,essv19900,essv12088,essv14574,essv13338,essv18898,essv9441,essv10442,essv12873,essv8565,essv23321 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 nsv159668 1 16682453 16684183 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178246 M 24 CROCCP3 esv33046 1 16694145 16885111 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 essv25036 1 16700378 16817945 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 dgv20n67 1 16704467 16979088 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821710,nsv829614,nsv821699,nsv829636 M 31 4 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA18564,NA18570,NA18973,NA18997 nsv821511 1 16704467 16979088 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420247 S 1 1 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA10851 nsv829625 1 16704467 17154340 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423407,nssv1423946,nssv1423110,nssv1428819,nssv1434862,nssv1427247,nssv1431796,nssv1433412,nssv1428017,nssv1437217,nssv1436329 M 31 11 0 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 AK10,AK12,AK20,AK8,NA18526,NA18542,NA18582,NA18942,NA18949,NA18968,NA18999 esv29642 1 16705673 16998216 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 26 20 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 dgv31e1 1 16729814 16928493 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16398,essv9511,essv8527,essv18478,essv24736,essv15397,essv15729,essv19470,essv12804,essv17392,essv22522,essv14216,essv9681,essv16000,essv19114 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 16729814 16998245 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23488,essv20254,essv1741,essv2334,essv6017,essv22908,essv23350,essv15858,essv5156,essv21549,essv5730,essv14729,essv447,essv17268,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 dgv33e1 1 16736674 16841682 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 16738731 16782708 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443251,nssv1443218,nssv1443129,nssv1443140,nssv1443151,nssv1443162,nssv1443196,nssv1443229,nssv1443185,nssv1443207,nssv1443173,nssv1443240 M 95 0 12 MIR3675,NBPF1 essv17368 1 16743903 16803593 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 nsv499577 1 16751952 16879556 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585483 S 9 0 0 CROCCP2,MST1P2,NBPF1 nsv7173 1 16758161 17136901 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1910,nssv5314,nssv5331,nssv3885,nssv929,nssv9691,nssv747,nssv11237,nssv9949,nssv10485,nssv10890,nssv9682,nssv10507,nssv5304,nssv10523,nssv3861,nssv657,nssv10882,nssv9405,nssv1777,nssv3851,nssv9355,nssv1903,nssv6334,nssv1893,nssv1863 M 9 0 0 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv3632 1 16758433 16793011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5295,nssv2682,nssv3801,nssv9681,nssv11241,nssv564,nssv6260 M 9 7 0 NBPF1 NA12156,NA12878,NA15510,NA18507,NA18555,NA19129,NA19240 nsv834247 1 16759150 16869758 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443296,nssv1443273,nssv1443373,nssv1443362,nssv1443340,nssv1443307,nssv1443262,nssv1443318,nssv1443329,nssv1443351,nssv1443284,nssv1443384 M 95 1 11 CROCCP2,MST1P2,NBPF1 nsv221 1 16760883 16764275 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv221 S 1 1 0 NBPF1 NA15510 nsv471343 1 16762999 16791276 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,nssv548025,nssv548027 M 3 NBPF1 nsv471344 1 16762999 16812569 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,nssv548028,nssv548030 M 3 NBPF1 nsv482190 1 16762999 16812569 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 nsv514916 1 16764035 16766562 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 nsv435932 1 16764976 16765094 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465620 S 2 1 0 NBPF1 NA15510 nsv159149 1 16765080 16766617 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177727 M 24 NBPF1 nsv436039 1 16765276 16765332 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465731 S 2 1 0 NBPF1 NA15510 esv34697 1 16767863 16918233 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 nsv3743 1 16772086 16818208 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3842,nssv835 M 9 0 2 CROCCP2,NBPF1 NA12878,NA19240 dgv1n16 1 16781280 16788232 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436307,nsv435920 M 2 0 2 NBPF1 NA15510,NA18505 nsv160674 1 16783342 16789645 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179252 M 24 NBPF1 dgv34e1 1 16792858 17172570 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1312,essv2566,essv7452,essv2391,essv5863,essv1654,essv1297,essv4527,essv9483,essv1070,essv3658,essv635,essv3575,essv2922,essv1545,essv7886,essv14835,essv19315,essv11327,essv14917,essv22714,essv98,essv18806,essv4106,essv9528,essv8675,essv3489,essv4325,essv3943,essv20473,essv18690,essv1669,essv2946,essv12074,essv5077,essv507,essv3913,essv21893,essv10512,essv7246,essv7670,essv13813,essv8492,essv22267,essv23764,essv20753,essv21960,essv11309,essv5427,essv23713,essv14801,essv19814,essv24438,essv24019,essv5680,essv5953,essv24605,essv2,essv13968,essv14021,essv24180,essv613,essv22697,essv7649,essv21496,essv23097,essv8061,essv192,essv20981,essv2727,essv3252,essv13992,essv1573,essv1690,essv5646,essv2702,essv20819,essv1807,essv2144 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 16795117 16841025 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337771 S 1 1 0 CROCCP2,NBPF1 NA18507 dgv35e1 1 16795403 16841682 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19889,essv6793 M 271 0 0 CROCCP2,NBPF1 NA11881,NA18594 dgv36e1 1 16795403 16928493 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6935,essv25159,essv12038,essv21752,essv24554,essv15449,essv23162,essv15972,essv8991,essv11603,essv5622,essv19145,essv15156,essv22785,essv10595,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 16795827 16882680 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649816 M 265 45 1 Samples from several populations that are part of the HapMap project. CROCCP2,MIR3675,MST1P2,NBPF1 nsv471655 1 16795828 16882680 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550580,nssv550572,nssv550599,nssv550575,nssv550596,nssv550585,nssv550574,nssv550579,nssv550590,nssv550595,nssv550598,nssv550581,nssv550577,nssv550592,nssv550589,nssv550571,nssv550591,nssv550573,nssv550597,nssv550576,nssv550593,nssv550586,nssv550583,nssv550582,nssv550594,nssv550584,nssv550588,nssv550587,nssv550578 M 48 2 27 CROCCP2,MIR3675,MST1P2,NBPF1 JK1051,JK1058,JK776,NA10469,NA10494,NA10495,NA10496,NA10967,NA10969,NA10976,NA10979,NA11521,NA11523,NA15724,NA15725,NA15726,NA15728,NA15730,NA15731,NA15732,NA15733,NA17014,NA17015,NA17016,NA17020,NA17051,NA17052,NA17059,P86GA essv11467 1 16795835 16803593 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 nsv3854 1 16817728 16837158 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 esv29948 1 16820714 17130584 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 16825663 16979088 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821721,nsv821732 M 31 2 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9 AK14,NA18547 dgv37e1 1 16832049 16928493 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6418,essv2364,essv19296,essv19712,essv18520,essv20548,essv7638,essv14928,essv19372,essv995 M 271 0 0 ESPNP,MIR3675,MST1P2 NA07019,NA07022,NA11995,NA12236,NA12763,NA18545,NA18547,NA18964,NA18995,NA19132 dgv38e1 1 16832049 17088918 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv747,essv18043,essv722,essv13406,essv19835 M 271 0 0 ESPNP,MIR3675,MST1P2,MST1P9 NA06993,NA10847,NA18872,NA18940,NA19003 nsv436652 1 16847039 16955830 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 nsv160333 1 16873514 16873824 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178911 M 24 "" dgv178n71 1 16877437 17155012 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871363,nsv871292,nsv871526,nsv871417,nsv870770,nsv871699,nsv871087 M 6533 18 0 CROCC,ESPNP,MIR3675,MST1P9 IS30522,IS31145,IS31169,IS31369,IS33712,IS34059,IS36992,IS38610,IS38651,IS39243,IS40254,IS41832,IS41939,MS16039,MS23602,SP53407,SP54408,SP54812 esv6890 1 16878851 16925032 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29331 S 1 0 0 ESPNP,MIR3675 SJK dgv39e1 1 16880179 16998245 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3203,essv21290,essv6578,essv15527,essv15232,essv18131,essv12558,essv12264,essv3462,essv4752,essv21756,essv6329,essv24418,essv8651,essv24798,essv4243,essv14389,essv5796,essv5201,essv6909,essv20425,essv5576,essv3706,essv14604,essv24578,essv20210,essv529,essv16393,essv9749,essv17956,essv21315,essv11094,essv9084,essv1465,essv4715,essv7828,essv23121,essv1164,essv7560,essv1152,essv22983,essv2656 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 dgv40e1 1 16880179 17356568 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 dgv2n6 1 16882144 16885348 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv159352,nsv159492 M 24 "" nsv438303 1 16884242 16896887 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469074,nssv468852,nssv468963,nssv468740 M 269 0 4 Samples from several populations that are part of the HapMap project. ESPNP NA12802,NA12815,NA19138,NA19139 esv33965 1 16884707 17152562 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 31 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 16885327 16923389 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366950 S 1 1 0 ESPNP NA18507 nsv821743 1 16886175 16979088 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437930 S 31 1 0 ESPNP,MST1P9 NA18951 nsv437204 1 16887281 16896887 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 16887848 16905451 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426377 S 31 1 0 ESPNP AK6 nsv821765 1 16887848 16926498 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440804 S 31 1 0 ESPNP NA18969 nsv819277 1 16891008 16926528 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418721 S 2 1 0 ESPNP AK1 nsv437205 1 16891707 16908818 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 dgv41e1 1 16895990 17143724 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1047,essv5657,essv5761,essv18576,essv7481,essv6198,essv5003,essv4337,essv17409,essv3327,essv7051,essv25180,essv8890,essv1975,essv3684,essv6855,essv934,essv2412,essv3853,essv3440,essv2114 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 16896887 16955848 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 16897692 16928493 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 nsv511141 1 16907780 16919043 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625265 S 1 0 1 ESPNP 1 essv19867 1 16908187 16928493 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 esv2440890 1 16923389 16926768 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191715 S 1 1 0 "" NA18507 dgv22n67 1 16923424 16979241 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821776,nsv821787,nsv821798,nsv821810 M 31 4 0 MST1P9 AK16,AK18,AK2,AK4 nsv3965 1 16925098 16957629 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 nsv436227 1 16934681 17059410 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465895 S 2 0 1 Samples from several populations that are part of the HapMap project. MIR3675,MST1P9 NA18505 nsv436024 1 16935707 17060890 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465906 S 2 1 0 MIR3675,MST1P9 NA15510 nsv498664 1 16944010 16945799 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585404 S 9 0 1 "" dgv179n71 1 16979082 17155012 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871618,nsv871880 M 6533 7 0 CROCC,MIR3675 IS30953,IS32680,IS35717,IS37520,IS38069,IS41956,SP55684 esv26111 1 17048309 17154340 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 11 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 17048309 17154340 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420258 S 1 1 0 CROCC,MIR3675 NA10851 nsv834258 1 17049946 17153536 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443395,nssv1443407,nssv1443418 M 95 0 3 CROCC,MIR3675 nsv834269 1 17054365 17237613 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443551,nssv1443562,nssv1443606,nssv1443495,nssv1443429,nssv1443462,nssv1443518,nssv1443617,nssv1443440,nssv1443529,nssv1443629,nssv1443473,nssv1443573,nssv1443595,nssv1443640,nssv1443651,nssv1443506,nssv1443540,nssv1443484,nssv1443451,nssv1443662,nssv1443584 M 95 0 22 ATP13A2,CROCC,MFAP2,MIR3675,SDHB esv990069 1 17063449 17134834 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586006 S 3 0 1 CROCC HuRef nsv442727 1 17067742 17134834 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CROCC dgv180n71 1 17075479 17148404 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870547,nsv870479 M 6533 0 3 CROCC SP51025,SP52946,SP57243 dgv23n67 1 17080164 17145194 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821832,nsv821821 M 31 2 0 CROCC NA18547,NA18592 nsv433184 1 17081038 17135964 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 dgv181n71 1 17081038 17148404 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871712,nsv871436,nsv870898,nsv870928 M 6533 7 0 CROCC SP50082,SP52409,SP53473,SP54389,SP54510,SP55698,SP55984 dgv182n71 1 17081038 17153590 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871773,nsv870812 M 6533 2 4 CROCC SP51499,SP52017,SP54127,SP54734,SP57193,SP57430 esv29988 1 17081919 17124754 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 esv2421455 1 17082190 17140083 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5054086,essv5077283,essv5032170,essv5111824,essv5124332,essv5042829,essv5031308,essv5029838,essv5101917,essv5032316,essv5121813,essv5111803,essv5018172,essv5128068,essv5139328,essv5154202,essv5064272,essv5149086,essv5076597,essv5037077,essv5155101,essv5103759,essv5119538,essv5090959,essv5061003,essv5152984,essv5102550,essv5117088,essv5033382,essv5028158,essv5057556,essv5107567,essv5113257,essv5077016,essv5136376,essv5038223,essv5147986,essv5124020,essv5106431,essv5145666,essv5020012,essv5040787,essv5051588,essv5067874,essv5032838,essv5021982,essv5010456,essv5155596,essv5105600,essv5054766,essv5148378,essv5139461,essv5057255,essv5009191,essv5123038,essv5089140,essv5016066,essv5004269,essv5039437,essv5071647,essv5056899,essv5143147,essv5108682,essv5050841,essv5153944,essv5157797,essv5128349,essv5147022,essv5096758,essv5022891,essv5037850,essv5127759,essv5089873,essv5153097,essv5135966,essv5148185,essv5042763,essv5103479,essv5103826,essv5131352,essv5007479,essv5159082,essv5034838,essv5110272,essv5105069,essv5151178,essv5079108,essv5075932,essv5050331,essv5060130,essv5112080,essv5060841,essv5159525,essv5016821,essv5048230,essv5076924,essv5076127,essv5015485,essv5124242,essv5157953,essv5009278,essv5159099,essv5047389,essv5052144,essv5143625,essv5031423,essv5091243,essv5085316,essv5086951,essv5030592,essv5139651,essv5019668,essv5065387,essv5051479,essv5048475,essv5026401,essv5044987,essv5045712,essv5091035,essv5101695,essv5084304,essv5002204,essv5157199,essv5121988,essv5088248,essv5117492,essv5007344,essv5160920,essv5093849,essv5024780,essv5099230,essv5023433,essv5107641,essv5086692,essv5128868,essv5054193,essv5117269,essv5152822,essv5026386,essv5010139,essv5016691,essv5134163,essv5059367,essv5012897,essv5130918,essv5007504,essv5138662,essv5078913,essv5003156,essv5098676,essv5130731,essv5019753,essv5060943,essv5002508,essv5045249,essv5044592,essv5136646,essv5091443,essv5065965,essv5160258,essv5035906,essv5131593,essv5016687,essv5048632,essv5127109,essv5103126,essv5151782,essv5082199,essv5033107,essv5113637,essv5046441,essv5007467,essv5024608,essv5039517,essv5091949,essv5147309,essv5103778,essv5038858,essv5104936,essv5014694,essv5064371,essv5089028,essv5140684,essv5133752,essv5006467,essv5146556,essv5055154,essv5082429,essv5096269,essv5079911,essv5049281,essv5085572,essv5124993,essv5111040,essv5092709,essv5057234,essv5008077,essv5117284,essv5141036,essv5133268,essv5064954,essv5125769,essv5147504,essv5133749,essv5117717,essv5142986,essv5047731,essv5085246,essv5115530,essv5115299,essv5090302,essv5152854,essv5116384,essv5143890,essv5075589,essv5022534,essv5134482,essv5122841,essv5156750,essv5102812,essv5117231,essv5103855,essv5123426,essv5037567,essv5021994,essv5095836,essv5039612,essv5079291,essv5058964,essv5040406,essv5096754,essv5030772,essv5021138,essv5027457,essv5084328,essv5146659,essv5144065,essv5024108,essv5123076,essv5017332,essv5019727,essv5048317,essv5008849,essv5037760,essv5098055,essv5030387,essv5132756,essv5080865,essv5054059,essv5094810,essv5102792,essv5125345,essv5128437,essv5072970,essv5130528,essv5110166,essv5157006,essv5002999,essv5075234,essv5086014,essv5070553,essv5075073,essv5072037,essv5074373,essv5152392,essv5072067,essv5007503,essv5012961,essv5109088,essv5030913,essv5140347,essv5036548,essv5109258,essv5040328,essv5046748,essv5156813,essv5003922,essv5112366,essv5030042,essv5051017,essv5133688,essv5150465,essv5104802,essv5058624,essv5088695,essv5017379,essv5121029,essv5090795,essv5035883,essv5127846,essv5103379,essv5026844,essv5101426,essv5097921,essv5098012,essv5142856,essv5092816,essv5065791,essv5062035,essv5160797,essv5054318,essv5053715,essv5134440,essv5038258,essv5028001,essv5061412,essv5098315,essv5056651,essv5141602,essv5148048,essv5123097,essv5158152,essv5024519,essv5058603,essv5045814,essv5041804,essv5081157,essv5052108,essv5003961,essv5119235,essv5054964,essv5121456,essv5026768,essv5048396,essv5117383,essv5095343,essv5146549,essv5019407,essv5077378,essv5016121,essv5117045,essv5030908,essv5017890,essv5145356,essv5114344,essv5008007,essv5065233,essv5135695,essv5076075,essv5105050,essv5043135,essv5043100,essv5121078,essv5016987,essv5126766,essv5048039,essv5057304,essv5075339,essv5136757,essv5010821,essv5107122,essv5101825,essv5039926,essv5086531,essv5098036,essv5145780,essv5058411,essv5120827,essv5052392,essv5026223,essv5083100,essv5095375,essv5123032,essv5135140,essv5121681,essv5104214,essv5076373,essv5102689,essv5160566,essv5041116,essv5047063,essv5045172,essv5024133,essv5099314,essv5028085,essv5060546,essv5071124,essv5028804,essv5130948,essv5076471,essv5051979,essv5160425,essv5014810,essv5111478,essv5072259,essv5045959,essv5083668,essv5094626,essv5027419,essv5110435,essv5078545,essv5030657,essv5080701,essv5136108,essv5064258,essv5139716,essv5079835,essv5088205,essv5118820,essv5051893,essv5157609,essv5153278,essv5058107,essv5126792,essv5159156,essv5123196,essv5051919,essv5017049,essv5105512,essv5103322,essv5036337,essv5101186,essv5058801,essv5157311,essv5055357,essv5094689,essv5126598,essv5055429,essv5021274,essv5086846,essv5016117,essv5114829,essv5021954,essv5081843,essv5056012,essv5002555,essv5027231,essv5014551,essv5063794,essv5007779,essv5014180,essv5095772,essv5112594,essv5092468,essv5129159,essv5092744,essv5049316,essv5081270,essv5095894,essv5133449,essv5152305,essv5084521,essv5071772,essv5035947,essv5122630,essv5081263,essv5111201,essv5093717,essv5149295,essv5027775,essv5088408,essv5083755,essv5063672,essv5093740,essv5008648,essv5046536,essv5125865,essv5135969,essv5130485,essv5072329,essv5114395,essv5129041,essv5127811,essv5110120,essv5133460,essv5129083,essv5090458,essv5100613,essv5042364,essv5008000,essv5109059,essv5049633,essv5119616,essv5056674,essv5048138,essv5036913,essv5020880,essv5012630,essv5006182,essv5097100,essv5097885,essv5134195,essv5078646,essv5105478,essv5089151,essv5059149,essv5117997,essv5009030,essv5114338,essv5152363,essv5048413,essv5003158,essv5116575,essv5069245,essv5113041,essv5083511,essv5045122,essv5117115,essv5096519,essv5083861,essv5146796,essv5065875,essv5032435,essv5006951,essv5005212,essv5094424,essv5071137,essv5158666,essv5047555,essv5119346,essv5144538,essv5011869,essv5030388,essv5002754,essv5007838,essv5058264,essv5124285,essv5134811,essv5052461,essv5085115,essv5115933,essv5142022,essv5159889,essv5113019,essv5006519,essv5004085,essv5059805,essv5066867,essv5053053,essv5148464,essv5099089,essv5097008,essv5115772,essv5104217,essv5068855,essv5018347,essv5149250,essv5051004,essv5114280,essv5041786,essv5040865,essv5004154,essv5006744,essv5039821,essv5065761,essv5041587,essv5064028,essv5051739,essv5040075,essv5079599,essv5032473,essv5078527,essv5121490,essv5114037,essv5150313,essv5020555,essv5078659,essv5155086,essv5116817,essv5087089,essv5130675,essv5073684,essv5113457,essv5046246,essv5152014,essv5028561,essv5081176,essv5065490,essv5084771,essv5100179,essv5053913,essv5098226,essv5029256,essv5107685,essv5015131,essv5067082,essv5022960,essv5045942,essv5128315,essv5044837,essv5114781,essv5130594,essv5047898,essv5106194,essv5070821,essv5042625,essv5066756,essv5047562,essv5084421,essv5123887,essv5050835,essv5075151,essv5115411,essv5157378,essv5153800,essv5146134,essv5122596,essv5088681,essv5015446,essv5118836,essv5064411,essv5004468,essv5064968,essv5071800,essv5032394,essv5086298,essv5031356,essv5136415,essv5017794,essv5065940,essv5133655,essv5135041,essv5087014,essv5075006,essv5029931,essv5074418,essv5142604,essv5134308,essv5004444,essv5101859,essv5051143,essv5106735,essv5135370,essv5103286,essv5065977,essv5145900,essv5125312,essv5085965,essv5022653,essv5113280,essv5009826,essv5055998,essv5031413,essv5143110,essv5060560,essv5077558,essv5136324,essv5127120,essv5061190,essv5042300,essv5150991,essv5018177,essv5002576,essv5025494,essv5130303,essv5110538,essv5062523,essv5157375,essv5056267,essv5021931,essv5095692,essv5037942,essv5004579,essv5151985,essv5074168,essv5021911,essv5076493,essv5091264,essv5014326,essv5010067,essv5105240,essv5102184,essv5047270,essv5096648,essv5106448,essv5119844,essv5066068,essv5085695,essv5117452,essv5069410,essv5147413,essv5018074,essv5044467,essv5050900,essv5090873,essv5006977,essv5093977,essv5155913,essv5079342,essv5159643,essv5032830,essv5022740,essv5019224,essv5088822,essv5076785,essv5128838,essv5055362,essv5156413,essv5004735,essv5028380,essv5104607,essv5011659,essv5061722,essv5096642,essv5024993,essv5045095,essv5133764,essv5085304,essv5098068,essv5025020,essv5063353,essv5147835,essv5099226,essv5103415,essv5015676,essv5074466,essv5035199,essv5101502,essv5059015,essv5092490,essv5104436,essv5092788,essv5139551,essv5057110,essv5108762,essv5083014,essv5009673,essv5055587,essv5005847,essv5066838,essv5071290,essv5138727,essv5043721,essv5106778,essv5005544,essv5105910,essv5080108,essv5009440,essv5044898,essv5112506,essv5049622,essv5090798,essv5039355,essv5032469,essv5018174,essv5059549,essv5138642,essv5041169,essv5112549,essv5057016,essv5066540,essv5037484,essv5093178,essv5064110,essv5089240,essv5106741,essv5105808,essv5118129,essv5109355,essv5026732,essv5160036,essv5114019,essv5056874,essv5009199,essv5061673,essv5048257,essv5041980,essv5143686,essv5105480,essv5114680,essv5111876,essv5013009,essv5056144,essv5119957,essv5053255,essv5084910,essv5090637,essv5130759,essv5099069,essv5127738,essv5046634,essv5091838,essv5027238,essv5079526,essv5148716,essv5062068,essv5096160,essv5136215,essv5103771,essv5146488,essv5063859,essv5130484,essv5137608,essv5137317,essv5107317,essv5115989,essv5119277,essv5014507,essv5069984,essv5033589,essv5084379,essv5121588,essv5124305,essv5047004,essv5087882,essv5158627,essv5033120,essv5097936,essv5096769,essv5029426,essv5008791,essv5086652,essv5106798,essv5007786,essv5046901,essv5071444,essv5134265,essv5129917,essv5115978,essv5021628,essv5069059,essv5070319,essv5099962,essv5047460,essv5086003,essv5049144,essv5122188,essv5102014,essv5129387,essv5035516,essv5030022,essv5084952,essv5048297,essv5147205,essv5081290,essv5020252,essv5026459,essv5034553,essv5082948,essv5016348,essv5006490,essv5083720,essv5006486,essv5100525,essv5120699,essv5085767,essv5017352,essv5019386,essv5060750,essv5141584,essv5051338,essv5103961,essv5041206,essv5120412,essv5043975,essv5110707,essv5065850,essv5032089,essv5054679,essv5065477 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 nsv834280 1 17087300 17322088 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443684,nssv1443673,nssv1443728,nssv1443741,nssv1443717,nssv1443695,nssv1443706,nssv1443752 M 95 0 8 ATP13A2,CROCC,MFAP2,PADI2,SDHB essv24221 1 17089656 17143724 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 17089852 17129889 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 dgv24n67 1 17095279 17145222 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821843,nsv821876,nsv821887 M 31 3 0 CROCC NA18552,NA18566,NA18947 dgv183n71 1 17097851 17153590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871431,nsv871343 M 6533 0 2 CROCC SP53583,SP57410 dgv25n67 1 17102401 17133885 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821865,nsv821854,nsv821898 M 31 3 0 CROCC AK2,NA18537,NA18972 nsv508947 1 17108899 17210197 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619776,nssv623774 M 4 2 0 ATP13A2,CROCC,MFAP2 NA10860,NA18994 dgv184n71 1 17112560 17213465 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871043,nsv871503 M 6533 0 2 ATP13A2,CROCC,MFAP2 IS37646,MS17208 nsv482201 1 17121032 17172061 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 17121472 17140916 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 nsv438355 1 17126415 17137953 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469518,nssv469407,nssv469296,nssv469185 M 269 0 4 Samples from several populations that are part of the HapMap project. CROCC NA19207,NA19208,NA19238,NA19240 nsv471438 1 17127282 17153825 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 nssv548289,nssv548311,nssv548300 M 3 CROCC dgv185n71 1 17140083 17216866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870461,nsv870569,nsv871088 M 6533 0 6 ATP13A2,CROCC,MFAP2 IS39233,IS39417,MS10311,MS10698,MS10769,SP54956 nsv871590 1 17148404 17182127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510642 S 6533 0 1 CROCC,MFAP2 SP54988 esv2422314 1 17279980 17415709 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 nsv460662 1 17285088 17358138 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 17313683 17313918 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496597,essv2512606,essv2496873,essv2511845,essv2494255,essv2504098,essv2508968,essv2505310,essv2500978,essv2507211,essv2507295,essv2495578,essv2501405,essv2506546,essv2510812,essv2493548,essv2498908,essv2501826 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 17313692 17313975 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580878,essv2579123,essv2579728 M 7 3 0 Samples from several populations that are part of the HapMap project. PADI2 NA19238,NA19239,NA19240 esv2422211 1 17325509 17357086 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 17364857 17365637 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378317 S 1 1 0 "" NA18507 nsv512720 1 17365270 17366158 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625345 S 1 1 0 "" 1 esv1174577 1 17365301 17365301 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070341 S 2 1 0 "" HuRef nsv834291 1 17403404 17549299 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443763,nssv1443774 M 95 2 0 PADI1,PADI3,PADI4 esv1489199 1 17407679 17407679 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883314 S 2 1 0 PADI1 HuRef nsv871364 1 17418135 17442536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597263 S 6533 0 1 PADI1 IS40799 nsv470700 1 17424530 17467179 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 17439160 17441668 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626318 S 1 0 1 PADI1 1 esv1009642 1 17440535 17440822 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578196 S 3 0 1 PADI1 HuRef esv1398963 1 17440584 17440872 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4132855 S 2 0 1 PADI1 HuRef nsv508958 1 17443929 17495719 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623775,nssv619777,nssv621083 M 4 3 0 PADI1,PADI3 NA10860,NA15510,NA18994 nsv521814 1 17459240 17464911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694586 S 2026 0 1 PADI3 nsv516116 1 17464911 17486396 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669330,nssv668375,nssv691565,nssv654821,nssv666311 M 2026 5 0 PADI3 nsv4076 1 17482320 17493999 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 17488383 17488383 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808815 S 2 1 0 "" HuRef esv997286 1 17488389 17492015 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565762 S 3 1 0 "" HuRef nsv511142 1 17547408 17553864 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625376 S 1 0 1 PADI4 1 esv33950 1 17548102 17549701 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 17548473 17551517 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 17548480 17550349 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26882 S 1 0 1 Single Asian sample YH PADI4 YH nsv511681 1 17548587 17550285 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626319 S 1 0 1 PADI4 1 dgv26n67 1 17548925 17549903 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 esv2590404 1 17577359 17578787 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203286 S 1 0 1 PADI6 NA18507 esv2214804 1 17578009 17578656 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985556 S 1 0 1 PADI6 NA18507 esv2626551 1 17578194 17578505 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305827 S 1 0 1 PADI6 NA18507 nsv821932 1 17637086 17639506 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426379 S 31 1 0 RCC2 AK6 nsv4187 1 17702531 17736580 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 17730518 17912534 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443785,nssv1443796 M 95 0 2 ARHGEF10L esv997027 1 17734365 17749665 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564910 S 3 0 0 ARHGEF10L HuRef nsv818089 1 17760550 17775885 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417309 S 112 0 1 ARHGEF10L NA18608 nsv470701 1 17760550 17791187 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 esv988531 1 17761998 17772536 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563476 S 3 0 1 ARHGEF10L HuRef nsv460673 1 17765403 17791187 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 nsv870678 1 17768331 17837781 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534676 S 6533 0 1 ARHGEF10L MS11726 nsv870973 1 17791187 17904120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530423,nssv1546452 M 6533 0 2 ARHGEF10L MS10311,MS17208 nsv4298 1 17814253 17835256 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 nsv518693 1 17871364 17873214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696144 S 2026 0 1 ARHGEF10L nsv512721 1 17887887 17888572 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625346 S 1 1 0 ARHGEF10L 1 nsv508248 1 17936992 18012892 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 17946092 17947289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696036 S 2026 0 1 "" nsv161140 1 18096718 18096718 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179718 M 24 "" esv275339 1 18103122 18109206 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585726 S 1250 0 1 "" nsv871819 1 18132050 18177879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582210 S 6533 0 1 "" IS35853 esv269411 1 18143657 18143999 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511899,essv2493266,essv2509723,essv2496457,essv2493599,essv2507239,essv2493979,essv2509260,essv2501452,essv2504716,essv2510947,essv2509521 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 18154502 18361688 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443818,nssv1443829,nssv1443807 M 95 0 3 IGSF21 nsv508969 1 18185254 18251218 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623776,nssv619778 M 4 2 0 "" NA10860,NA18994 esv269972 1 18203950 18204379 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493973,essv2496899 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18871,NA19190 nsv521926 1 18221371 18284968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694696 S 2026 0 1 "" nsv526833 1 18247527 18250377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703190 S 2026 0 1 "" nsv834324 1 18373494 18553921 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 18379584 18412953 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 18416371 18430332 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 18434506 18469664 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 18451625 18473411 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705040 S 2026 0 1 IGSF21 nsv834336 1 18499440 18685787 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443852 S 95 0 1 IGSF21,KLHDC7A nsv870620 1 18499504 18640598 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558416 S 6533 1 0 IGSF21 MS23257 nsv4631 1 18502088 18534847 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 esv994039 1 18529669 18529764 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570521 S 3 0 1 IGSF21 HuRef nsv4743 1 18575182 18620397 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 esv259461 1 18665021 18665298 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394181,essv2393959 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv995072 1 18665125 18665125 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567950 S 3 1 0 "" HuRef nsv160887 1 18665127 18665127 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179465 M 24 "" esv1135568 1 18665188 18665188 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108538 S 2 1 0 "" HuRef nsv159998 1 18665196 18665196 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178576 M 24 "" esv275146 1 18672834 18679704 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585623 S 1250 0 1 "" nsv871296 1 18684763 18852461 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552651 S 6533 1 0 KLHDC7A,PAX7 MS19571 nsv518311 1 18685613 18686032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695742 S 2026 0 1 "" nsv4854 1 18745518 18791168 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 18766179 18781452 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 18797221 18797291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315808 S 2 0 1 "" HuRef nsv4965 1 18804399 18837973 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 nsv5076 1 18858189 18902861 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 18868065 18874065 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 nsv870794 1 18872418 18961005 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552652 S 6533 1 0 PAX7 MS19571 esv2599950 1 18925076 18925227 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276923 S 1 0 1 PAX7 NA18507 esv1070523 1 18943551 18943551 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207695 S 2 1 0 PAX7 HuRef nsv5187 1 18954665 18999571 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8645 S 9 0 1 "" NA12156 nsv870906 1 18998786 19080818 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552653 S 6533 1 0 ALDH4A1,TAS1R2 MS19571 esv2589469 1 19023733 19025210 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385528 S 1 0 1 "" NA18507 esv3876 1 19024338 19024992 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26317 S 1 0 1 Single Asian sample YH "" YH nsv834347 1 19115358 19341509 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 19125008 19125494 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625347 S 1 1 0 IFFO2 1 esv26882 1 19198813 19201050 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16565 S 451 0 1 "" NA18858 esv21929 1 19228238 19232463 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 19237962 19275195 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2867,nssv5363,nssv3923 M 9 3 0 UBR4 NA12878,NA18555,NA19129 nsv508980 1 19241429 19296838 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 esv1963532 1 19259049 19259392 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528609 S 1 0 1 "" NA18507 esv29322 1 19259249 19259959 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 nsv512723 1 19260386 19260504 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625348 S 1 1 0 "" 1 nsv470702 1 19415518 19452556 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 nsv871933 1 19441559 19559524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585787 S 6533 0 1 AKR7A2,AKR7A3,AKR7L,CAPZB,KIAA0090,LOC100506730,MRTO4,PQLC2 IS37646 esv26443 1 19472219 19487114 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 nsv871934 1 19500463 19559524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543356,nssv1584765,nssv1592098 M 6533 0 3 AKR7A2,CAPZB,PQLC2 IS37172,IS39233,MS16153 dgv186n71 1 19514913 19559524 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870883,nsv870761 M 6533 0 2 CAPZB,PQLC2 MS10311,MS22103 esv2547343 1 19519310 19521534 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328741 S 1 0 1 PQLC2 NA18507 nsv871443 1 19531936 19559524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555759 S 6533 0 1 CAPZB MS21536 nsv834358 1 19600452 19778614 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 19603885 19608461 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 esv2398290 1 19633847 19634376 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666927 S 1 0 1 CAPZB NA18507 esv3747 1 19633947 19634251 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26188 S 1 0 1 Single Asian sample YH CAPZB YH nsv471771 1 19633977 19634198 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646052 M 1.068 95 CAPZB esv6224 1 19634011 19634196 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28665 S 1 0 1 CAPZB SJK nsv470703 1 19722243 19776798 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 nsv508991 1 19766655 19904991 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 19770839 19771087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580093,essv2580490,essv2579901 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1007512 1 19802816 19819397 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565353 S 3 0 0 C1orf151,C1orf15-NBL1 HuRef nsv159533 1 19827465 19827530 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178111 M 24 C1orf151,C1orf15-NBL1 esv2395760 1 19841881 19842314 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876743 S 1 0 1 C1orf15-NBL1,NBL1 NA18507 esv7640 1 19841988 19842043 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30081 S 1 1 0 C1orf15-NBL1 SJK dgv187n71 1 19851482 19868078 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870605,nsv871844 M 6533 0 2 C1orf15-NBL1,HTR6,NBL1 SP54672,SP54956 nsv870984 1 19903735 20055929 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558417 S 6533 1 0 RNF186,TMCO4 MS23257 esv22015 1 19963063 19964549 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 nsv460717 1 20109318 20123386 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537249 S 1557 0 1 OTUD3,PLA2G2E NINDS_168 esv269632 1 20129651 20129993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576017,essv2571726,essv2546564,essv2576724,essv2535007,essv2547441,essv2530664,essv2562125,essv2537444,essv2528311,essv2522271,essv2570011,essv2563583,essv2572459,essv2566463,essv2536323,essv2524981 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 20129651 20129993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 20131192 20132300 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284149 S 1 1 0 "" NA18507 nsv871115 1 20141756 20188186 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558418 S 6533 1 0 PLA2G2A MS23257 nsv527818 1 20178474 20252732 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704313 S 2026 1 0 PLA2G2A nsv5520 1 20270133 20315058 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 20278935 20283694 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290042 S 1 0 1 PLA2G5 NA18507 esv2164449 1 20279549 20283386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4803624 S 1 0 1 PLA2G5 NA18507 esv25446 1 20279685 20283259 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 nsv519515 1 20280768 20281961 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674889,nssv693891,nssv656533,nssv689562 M 2026 0 4 PLA2G5 esv1003821 1 20303656 20315565 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564297 S 3 0 1 PLA2G2D HuRef esv2606339 1 20369396 20370758 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295790 S 1 0 1 PLA2G2C NA18507 esv2380061 1 20369588 20370508 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621106 S 1 0 1 PLA2G2C NA18507 esv26523 1 20369816 20370376 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 esv26309 1 20371591 20373385 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 esv1000843 1 20414216 20418043 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565754 S 3 0 1 "" HuRef nsv818100 1 20473599 20477546 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417739 S 112 0 1 "" NA19003 esv24128 1 20487218 20488654 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16821 S 451 1 0 "" NA11993 nsv871750 1 20525385 20590350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561150 S 6533 1 0 LOC339505,VWA5B1 MS24867 nsv5631 1 20537419 20580213 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5386,nssv3933 M 9 2 0 LOC339505,VWA5B1 NA12878,NA19129 nsv871486 1 20556533 20590350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542209 S 6533 1 0 LOC339505 MS15709 esv2513498 1 20581164 20582087 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214092 S 1 1 0 LOC339505 NA18507 esv2560487 1 20662449 20662898 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314979 S 1 1 0 "" NA18507 nsv512724 1 20662569 20662675 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625349 S 1 1 0 "" 1 nsv821943 1 20678598 20691234 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426380 S 31 1 0 CAMK2N1 AK6 nsv460729 1 20766552 20791499 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 esv2750602 1 20786879 20787704 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 20788288 20807383 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704704 S 2026 0 1 CDA esv998962 1 20797976 20803754 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565384 S 3 0 1 CDA HuRef nsv511682 1 20804213 20805394 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626320 S 1 0 1 CDA 1 esv24339 1 20805104 20806231 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 nsv834369 1 20808850 20978917 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443896,nssv1443885 M 95 0 2 CDA,DDOST,HP1BP3,KIF17,PINK1,SH2D5 esv270154 1 20817302 20817656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516723,essv2516990,essv2518821,essv2518495,essv2516305,essv2515659 M 157 6 0 Samples from several populations that are part of the HapMap project. CDA NA11881,NA11931,NA12045,NA12287,NA12814,NA12815 esv2633764 1 20822484 20822872 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230908 S 1 1 0 "" NA18507 nsv870827 1 20823946 21209900 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558419 S 6533 1 0 DDOST,EIF4G3,HP1BP3,KIF17,PINK1,SH2D5 MS23257 esv2499678 1 20824410 20826003 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192304 S 1 0 1 "" NA18507 esv3920 1 20824849 20825365 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26361 S 1 0 1 Single Asian sample YH "" YH esv1075995 1 20825075 20825255 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629701 S 2 0 1 "" HuRef nsv522796 1 20867539 20875313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698440 S 2026 0 1 KIF17 nsv520013 1 20883769 20927313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697177 S 2026 0 1 KIF17,SH2D5 nsv870993 1 20899548 20927313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510643 S 6533 0 1 KIF17,SH2D5 SP54988 dgv188n71 1 20908165 20927313 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871506,nsv871790 M 6533 0 2 KIF17,SH2D5 SP54043,SP54725 nsv871858 1 20948045 21328502 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545849 S 6533 0 1 EIF4G3,HP1BP3 MS16986 nsv5742 1 20957474 20992598 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 esv1356855 1 21015136 21015578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611504 S 2 0 1 EIF4G3 HuRef nsv834380 1 21271857 21447028 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443907 S 95 1 0 ECE1,EIF4G3 nsv160811 1 21300656 21303960 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179389 M 24 EIF4G3 esv1007787 1 21357379 21359034 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565532 S 3 1 0 EIF4G3 HuRef nsv871876 1 21380475 21455898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589066 S 6533 0 1 ECE1 IS38293 nsv870456 1 21380475 21839420 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555703 S 6533 1 0 ALPL,ECE1,LOC100506801,NBPF3,RAP1GAP MS21517 esv1000397 1 21393754 21412491 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565165 S 3 0 0 "" HuRef nsv871179 1 21406824 21418169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508891 S 6533 0 1 ECE1 SP54726 esv1387368 1 21409684 21410106 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804670 S 2 0 1 "" HuRef esv1006358 1 21446403 21458931 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564803 S 3 0 1 ECE1 HuRef esv2109865 1 21499905 21500323 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765838 S 1 0 1 ECE1 NA18507 nsv515620 1 21529749 21529826 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656270,nssv664134 M 2026 0 2 ECE1 esv23912 1 21531415 21532035 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 esv34155 1 21566164 22039203 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 21570077 21687749 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 21608059 21687749 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420269 S 1 1 0 NBPF3 NA10851 dgv42e1 1 21608771 21815001 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11654,esv191,essv11511 M 271 0 0 ALPL,NBPF3,RAP1GAP NA19154,NA19173 nsv428432 1 21608771 21815001 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454598,nssv454554,nssv454620,nssv454565,nssv454609,nssv454587,nssv454576 M 62 7 0 ALPL,NBPF3,RAP1GAP HGDP00460,HGDP00463,HGDP00472,HGDP01093,HGDP01094,NA18916,NA19096 nsv9435 1 21610330 21672782 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15120,nssv16109,nssv14412 M 31 2 1 Samples from several populations that are part of the HapMap project. NBPF3 NA18502,NA19173,NA19221 esv7069 1 21627030 21678937 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29510 S 1 0 0 NBPF3 SJK esv989724 1 21659005 21659276 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569889 S 3 0 1 NBPF3 HuRef esv2456631 1 21659007 21659278 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375893 S 1 0 1 NBPF3 NA18507 esv1311289 1 21659007 21659279 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347116 S 2 0 1 NBPF3 HuRef esv2195718 1 21660138 21660586 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650166 S 1 0 1 NBPF3 NA18507 esv1213372 1 21660332 21660396 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769496 S 2 0 1 NBPF3 HuRef nsv160214 1 21660333 21660396 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178792 M 24 NBPF3 nsv527108 1 21695879 21699153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703488 S 2026 0 1 "" nsv834391 1 21722520 21923069 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443918,nssv1443951,nssv1443940,nssv1443929,nssv1443963 M 95 0 5 ALPL,RAP1GAP,USP48 esv1457635 1 21726126 21726126 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639911 S 2 1 0 ALPL HuRef nsv517096 1 21736278 21869435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678465,nssv657650,nssv676837,nssv667702,nssv699191,nssv678892,nssv705217,nssv671036,nssv682311,nssv682220,nssv652854,nssv674071,nssv651804,nssv679211,nssv658962,nssv695226,nssv674624,nssv683155,nssv653597,nssv661510,nssv667278 M 2026 0 21 ALPL,RAP1GAP dgv189n71 1 21736793 21869435 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871284,nsv871562 M 6533 0 2 ALPL,RAP1GAP MS10311,MS17208 dgv190n71 1 21755407 21783477 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870545,nsv870469 M 6533 0 2 ALPL IS30127,IS40799 nsv871612 1 21755407 21810962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573734,nssv1578375 M 6533 0 2 ALPL,RAP1GAP IS33504,IS34768 nsv460740 1 21762093 21772078 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537258 S 1557 0 1 ALPL NINDS_181 nsv871706 1 21774044 21826023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593367 S 6533 0 1 ALPL,RAP1GAP IS39417 nsv508359 1 21777461 21853278 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 21777461 21853278 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 dgv191n71 1 21780191 21820307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871398,nsv871444 M 6533 0 2 RAP1GAP IS39233,MS13770 nsv470704 1 21789821 21810961 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 nsv871036 1 21789821 21839420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543357 S 6533 0 1 RAP1GAP MS16153 dgv192n71 1 21794323 21826023 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870875,nsv871914 M 6533 0 2 RAP1GAP IS37172,MS18276 nsv870959 1 21800435 21869435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570675 S 6533 0 1 RAP1GAP IS32322 esv1002267 1 21807902 21817453 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564498 S 3 0 1 RAP1GAP HuRef nsv871675 1 21808292 21856198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574991 S 6533 0 1 RAP1GAP IS33684 nsv460751 1 21831123 21861209 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537263 S 1557 0 1 RAP1GAP 1780854065_A nsv870764 1 21842876 21879308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573735 S 6533 0 1 RAP1GAP,USP48 IS33504 nsv5854 1 21875736 21910696 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 nsv5965 1 21913545 21944069 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 21915252 22003696 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 nsv871274 1 21961428 22122176 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530426 S 6533 0 1 HSPG2,LDLRAD2,USP48 MS10311 nsv515659 1 21998916 22137880 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687314,nssv705427,nssv705759,nssv704109,nssv663807,nssv695098,nssv669540,nssv664272,nssv669785 M 2026 0 9 HSPG2,LDLRAD2 nsv9546 1 22001165 22010558 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 22003696 22174188 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 dgv193n71 1 22004123 22057139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870689,nsv870870,nsv870579,nsv871897,nsv871386 M 6533 0 6 HSPG2,LDLRAD2 IS32841,IS37172,IS39233,IS40230,MS13095,MS16315 dgv194n71 1 22004123 22088866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870980,nsv871831,nsv870861 M 6533 0 4 HSPG2,LDLRAD2 MS10123,MS10769,MS16153,MS18276 esv33753 1 22004531 22009931 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 22007819 22195709 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443985,nssv1443996,nssv1443974 M 95 0 3 CELA3B,HSPG2,LDLRAD2 esv33407 1 22011685 22011805 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 nsv460762 1 22014570 22057139 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537273 S 1557 0 1 HSPG2,LDLRAD2 NINDS_70 nsv870552 1 22014570 22193698 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546454 S 6533 0 1 CELA3B,HSPG2,LDLRAD2 MS17208 nsv469549 1 22014652 22219090 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649660 M 265 0 3 Samples from several populations that are part of the HapMap project. CELA3A,CELA3B,HSPG2,LDLRAD2 esv1196174 1 22017235 22017370 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606269 S 2 0 1 LDLRAD2 HuRef nsv470706 1 22019664 22200865 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 nsv871433 1 22030950 22088866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538568 S 6533 0 1 HSPG2 MS13770 nsv460784 1 22057139 22088866 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 22063120 22084921 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564134 S 3 0 1 HSPG2 HuRef dgv43e1 1 22095108 22285444 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18229,esv180 M 271 0 0 CDC42,CELA3A,CELA3B,HSPG2,LINC00339 NA12057 nsv834413 1 22107800 22292761 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444007,nssv1444018,nssv1444040,nssv1444029 M 95 0 4 CDC42,CELA3A,CELA3B,HSPG2,LINC00339 nsv460795 1 22122176 22157082 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537305 S 1557 0 1 HSPG2 NINDS_74 esv1468707 1 22158993 22159043 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697282 S 2 0 1 "" HuRef nsv871504 1 22165643 22193698 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511918 S 6533 1 0 CELA3B SP55174 esv24116 1 22166472 22214926 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 nsv436921 1 22172760 22190556 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 esv7729 1 22180317 22204950 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30170 S 1 0 1 CELA3A,CELA3B SJK nsv9657 1 22182113 22215918 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12446,nssv18083 M 31 0 2 Samples from several populations that are part of the HapMap project. CELA3A,CELA3B NA18972,NA19007 dgv27n67 1 22188645 22216691 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821954,nsv821965 M 31 0 2 CELA3A NA18570,NA18972 nsv441686 1 22193098 22209830 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CELA3A esv2422105 1 22193102 22203126 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5099187,essv5160488,essv5144788,essv5025821,essv5139034,essv5005963,essv5090968,essv5130100,essv5007855,essv5079332,essv5120929,essv5048433,essv5101041,essv5122800,essv5004304,essv5012703,essv5069649,essv5152666,essv5060991,essv5089636,essv5137057,essv5140524,essv5049931,essv5131129,essv5079181,essv5122038,essv5052234,essv5031926,essv5068701,essv5126066,essv5009703,essv5026382,essv5150276,essv5029182,essv5098002,essv5052611,essv5160782,essv5093683,essv5107178,essv5127796,essv5039091,essv5062103,essv5086958,essv5151805,essv5089331,essv5012250,essv5057648,essv5073331,essv5051602,essv5094720,essv5122426,essv5069364,essv5021959,essv5087547,essv5039080,essv5013711,essv5092401,essv5136010,essv5082060,essv5112361,essv5013849,essv5135997,essv5027369,essv5047107,essv5118566,essv5153959,essv5013797,essv5079757,essv5109676,essv5114201,essv5014076,essv5004960,essv5092266,essv5051720,essv5116678,essv5047066,essv5072556,essv5035309,essv5057717,essv5010298,essv5087741,essv5040269,essv5139157,essv5010859,essv5067557,essv5048403,essv5156755,essv5048628,essv5127647,essv5066006,essv5098330,essv5106182,essv5160939,essv5030225,essv5008724,essv5060599,essv5082807,essv5092467,essv5048896,essv5117747,essv5097180,essv5040804,essv5155528,essv5099755 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 22200866 22261914 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705302 S 2026 1 0 CDC42,CELA3A,LINC00339 nsv871778 1 22229804 22364571 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558420 S 6533 1 0 CDC42,LINC00339,WNT4 MS23257 nsv6076 1 22288886 22322991 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 nsv460806 1 22324432 22385434 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537310 S 1557 0 1 WNT4 1780862415_A nsv517086 1 22372117 22385434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653762,nssv664021,nssv663458,nssv676101,nssv682668,nssv677352,nssv682790,nssv661058,nssv656347,nssv665257,nssv669739,nssv684635,nssv683851,nssv663876,nssv687280,nssv653181,nssv679575,nssv671842,nssv671692,nssv666144,nssv664643 M 2026 0 21 "" esv2421859 1 22372815 22381838 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5106782,essv5142667,essv5007542,essv5117300,essv5046500,essv5143680,essv5066431,essv5119150,essv5095704,essv5054217,essv5081713,essv5063248,essv5016642,essv5025384,essv5114057,essv5155133,essv5026109,essv5060034,essv5054726,essv5095750,essv5102934,essv5009562,essv5139059,essv5138053,essv5062450,essv5023611,essv5006220,essv5147501,essv5112577,essv5043047 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 22398305 22399741 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282711 S 1 0 1 "" NA18507 nsv871529 1 22406195 22470644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530427 S 6533 0 1 "" MS10311 nsv522370 1 22428580 22464043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695150 S 2026 0 1 "" dgv195n71 1 22437958 22489565 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871707,nsv871660 M 6533 0 2 "" MS13770,MS20042 nsv516575 1 22461580 22470644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674738,nssv669268 M 2026 0 2 "" nsv522775 1 22472660 22472754 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698416 S 2026 0 1 "" nsv159512 1 22472667 22481250 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178090 M 24 "" nsv528939 1 22472754 22480144 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705630 S 2026 0 1 "" nsv520015 1 22547808 22555617 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697178 S 2026 0 1 "" nsv159392 1 22552144 22552282 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177970 M 24 "" nsv6187 1 22588151 22608508 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3965 S 9 0 1 "" NA12878 nsv6298 1 22705095 22750151 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 22707136 22713136 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619226,nssv620646,nssv623263 M 4 3 0 ZBTB40 NA10860,NA15510,NA18994 nsv819803 1 22728268 22728572 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418549 S 2 1 0 ZBTB40 AK1 nsv509024 1 22736070 22780823 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 nsv871044 1 22736580 22888593 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546455 S 6533 0 1 C1QA,C1QB,C1QC,EPHA8 MS17208 nsv870779 1 22750400 22805640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530428 S 6533 0 1 EPHA8 MS10311 esv27002 1 22759112 22760850 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 22761762 22763766 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 esv259650 1 22769411 22769706 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394098,essv2393757,essv2393972,essv2394312 M 6 0 0 Samples from several populations that are part of the HapMap project. EPHA8 NA12878,NA19238,NA19239,NA19240 esv259678 1 22769428 22769723 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397318,essv2395644,essv2397697,essv2399248,essv2394967,essv2399320,essv2394691,essv2395351,essv2395475,essv2400819,essv2397760,essv2394577,essv2398310,essv2395189,essv2399764,essv2397261,essv2395989,essv2397081,essv2400524,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 esv994542 1 22773973 22779231 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565422 S 3 1 0 EPHA8 HuRef esv3577 1 22776903 22777261 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26018 S 1 0 1 Single Asian sample YH EPHA8 YH nsv820259 1 22776986 22777082 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418885 S 2 1 0 EPHA8 AK1 esv1707275 1 22777074 22777074 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714244 S 2 1 0 EPHA8 HuRef nsv160591 1 22777075 22778172 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179169 M 24 EPHA8 esv4502 1 22777998 22778245 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26943 S 1 0 1 Single Asian sample YH EPHA8 YH esv34161 1 22798842 23016810 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 esv1510090 1 22858408 22858470 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329170 S 2 0 1 C1QB HuRef nsv870805 1 22929777 22996176 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558421 S 6533 1 0 EPHB2 MS23257 esv2538911 1 22953450 22954195 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338263 S 1 1 0 EPHB2 NA18507 nsv512725 1 22953875 22954105 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625350 S 1 1 0 EPHB2 1 nsv469829 1 22954609 23135997 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649850 M 265 0 4 Samples from several populations that are part of the HapMap project. EPHB2,MIR4253 nsv871487 1 22971569 23042090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529780 S 6533 0 1 EPHB2 MS10123 nsv870618 1 22978800 23015083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530429 S 6533 0 1 EPHB2 MS10311 nsv509036 1 22979219 23058578 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 esv1389294 1 23002726 23002776 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987352 S 2 0 1 EPHB2 HuRef nsv528926 1 23061710 23079271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705616 S 2026 0 1 EPHB2,MIR4253 nsv6409 1 23097385 23129238 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 esv2504682 1 23149050 23149979 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188949 S 1 1 0 "" NA18507 esv1485438 1 23149534 23149534 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125835 S 2 1 0 "" HuRef nsv819213 1 23183977 23211560 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418711 S 2 0 1 LOC729059 AK1 nsv871851 1 23245358 23275735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507176 S 6533 0 1 KDM1A SP54490 nsv6520 1 23276956 23295633 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 23317319 23321760 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419637 S 2 0 1 LUZP1 AK1 nsv834424 1 23331991 23475289 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444051 S 95 0 1 HTR1D,LUZP1 nsv871587 1 23359564 23383437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509730 S 6533 0 1 LUZP1 SP54956 nsv821976 1 23367288 23368997 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429554 S 31 1 0 LUZP1 AK14 nsv6631 1 23466481 23485360 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3974,nssv9804,nssv6423,nssv10760,nssv5405,nssv964,nssv1966 M 9 7 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv509047 1 23470552 23489158 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621087,nssv617990,nssv619782,nssv623777 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1003688 1 23475723 23476851 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564590 S 3 1 0 "" HuRef nsv525446 1 23568739 23573899 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701574 S 2026 1 0 C1orf213,ZNF436 nsv521882 1 23583062 23587252 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694653 S 2026 0 1 TCEA3 nsv512726 1 23591356 23591714 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625351 S 1 1 0 TCEA3 1 esv2558689 1 23591446 23591647 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285756 S 1 0 1 TCEA3 NA18507 esv9540 1 23591541 23591722 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31981 S 1 0 1 TCEA3 SJK dgv28n67 1 23609069 23610338 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821987,nsv821998 M 31 0 7 TCEA3 AK16,AK18,AK4,NA18547,NA18582,NA18592,NA18999 nsv834435 1 23672049 23850518 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 nsv819574 1 23682227 23683902 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419305 S 2 1 0 ASAP3 AK1 esv1790599 1 23694331 23694331 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794850 S 2 1 0 "" HuRef nsv871598 1 23748227 23767741 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509731 S 6533 0 1 ID3 SP54956 nsv160295 1 23763647 23767838 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178873 M 24 "" nsv460840 1 23809848 23860948 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537340 S 1557 0 1 MDS2 1780862162_A esv275297 1 23830358 23833443 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585424 S 1250 0 1 MDS2 esv267772 1 23853687 23854029 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517452,essv2514749,essv2515366,essv2518492,essv2517801,essv2516280,essv2516872,essv2513639 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 23853694 23854026 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581763,essv2582338,essv2582886 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv160080 1 23876065 23879493 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178658 M 24 "" esv1587089 1 24036505 24036505 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060701 S 2 1 0 "" HuRef esv29329 1 24072733 24073978 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 24073049 24073899 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822020,nsv822043,nsv822032,nsv822009 M 31 0 5 CNR2 AK2,AK6,NA18947,NA18951,NA18972 esv991485 1 24081324 24087471 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563891 S 3 1 0 CNR2 HuRef nsv512727 1 24082950 24083431 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625352 S 1 1 0 CNR2 1 esv1663042 1 24083423 24083423 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228988 S 2 1 0 CNR2 HuRef nsv6742 1 24126500 24159968 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 nsv511683 1 24191456 24194778 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626322 S 1 0 1 "" 1 esv270413 1 24201324 24201409 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 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 esv2609872 1 24275040 24276823 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352209 S 1 0 1 MYOM3 NA18507 esv1968924 1 24275390 24276076 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552184 S 1 0 1 MYOM3 NA18507 esv989974 1 24275574 24275890 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571507 S 3 0 1 MYOM3 HuRef esv1250620 1 24275590 24275907 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762899 S 2 0 1 MYOM3 HuRef esv5851 1 24275599 24275891 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28292 S 1 0 1 MYOM3 SJK nsv822054 1 24280927 24281558 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431798 S 31 0 1 MYOM3 AK20 nsv506922 1 24347155 24353155 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619227,nssv623264,nssv617526,nssv620647 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv506923 1 24364233 24370233 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619228,nssv620649,nssv623265,nssv617527 M 4 4 0 IL28RA CHM,NA10860,NA15510,NA18994 nsv6853 1 24364700 24398808 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 esv29789 1 24392931 24396291 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 dgv30n67 1 24393400 24395993 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822065,nsv822076,nsv822087 M 31 0 14 "" AK12,AK14,AK18,AK20,AK6,AK8,NA18542,NA18547,NA18570,NA18592,NA18942,NA18951,NA18969,NA18973 dgv196n71 1 24399682 24550859 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871102,nsv871580 M 6533 2 0 GRHL3,LOC284632 MS23257,SP55010 nsv822098 1 24428586 24429374 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434162 S 31 0 1 "" NA18570 dgv197n71 1 24447932 24512901 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871048,nsv871751 M 6533 2 0 "" SP52428,SP55100 nsv469575 1 24452284 24648983 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649688 M 265 0 0 Samples from several populations that are part of the HapMap project. C1orf201,GRHL3,NIPAL3 esv1964436 1 24464970 24465349 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922131 S 1 0 1 "" NA18507 nsv834447 1 24522170 24677795 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 esv1739869 1 24544150 24544150 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074743 S 2 1 0 GRHL3 HuRef esv1745617 1 24544352 24544352 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185921 S 2 1 0 GRHL3 HuRef esv994910 1 24647483 24651098 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565699 S 3 1 0 NIPAL3 HuRef nsv6965 1 24667583 24687729 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 esv23193 1 24676884 24680227 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 24677123 24680037 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585415 S 9 0 1 "" nsv822109 1 24678281 24679447 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431800 S 31 0 1 "" AK20 dgv31n67 1 24678281 24680509 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822120,nsv822131 M 31 0 6 "" AK16,NA18537,NA18547,NA18582,NA18949,NA18969 nsv513983 1 24678480 24679292 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 24694156 24694156 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759955 S 2 1 0 "" HuRef nsv436645 1 24768045 24774830 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 esv27046 1 24768383 24773731 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 24776906 24868722 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 24801192 24801860 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674738 S 1 0 1 C1orf130 NA18507 esv2560351 1 24813235 24814028 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277621 S 1 1 0 "" NA18507 esv270489 1 24813830 24814180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516951,essv2518511,essv2517906,essv2516078,essv2514377,essv2517676,essv2513896,essv2518426 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 24813830 24814180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581568,essv2581052 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv160922 1 24831331 24839597 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179500 M 24 "" nsv460862 1 24859464 24912454 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 nsv870740 1 24888005 25216742 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558423 S 6533 1 0 CLIC4,RUNX3 MS23257 nsv522437 1 24953109 25059303 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705795 S 2026 1 0 CLIC4 nsv871066 1 24955439 25020337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514670 S 6533 0 1 CLIC4 SP56047 nsv871535 1 24985162 25057784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508596 S 6533 0 1 CLIC4 SP54579 nsv7076 1 24988905 25069215 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv973,nssv1983,nssv3984 M 9 0 3 CLIC4 NA12878,NA18555,NA19240 esv2525447 1 25030307 25034340 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183045 S 1 0 1 CLIC4 NA18507 esv2082154 1 25031077 25034306 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974766 S 1 0 1 CLIC4 NA18507 nsv511684 1 25031132 25034328 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626323 S 1 0 1 CLIC4 1 esv3809 1 25031257 25034166 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26250 S 1 0 1 Single Asian sample YH CLIC4 YH nsv498666 1 25031274 25034113 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585426 S 9 0 1 CLIC4 esv995974 1 25031277 25034098 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571583 S 3 0 1 CLIC4 HuRef esv1446144 1 25031290 25034112 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781063 S 2 0 1 CLIC4 HuRef esv995045 1 25031290 25037077 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564027 S 3 0 1 CLIC4 HuRef nsv160319 1 25031291 25034112 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178897 M 24 CLIC4 esv7429 1 25031292 25034100 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29870 S 1 0 1 CLIC4 SJK esv26140 1 25074420 25076013 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 25083566 25167306 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 nsv871803 1 25102718 25140509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509732 S 6533 0 1 RUNX3 SP54956 dgv198n71 1 25257120 25302060 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870575,nsv871482 M 6533 0 2 "" IS35701,MS20041 nsv870720 1 25270554 25358790 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558424 S 6533 1 0 "" MS23257 nsv526082 1 25282194 25292029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702326 S 2026 0 1 "" nsv471772 1 25283474 25283645 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646053 M 0.021 95 "" dgv44e1 1 25318097 25336438 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5839,esv1221 M 271 0 0 "" NA18524 nsv523480 1 25332019 25333235 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699245 S 2026 0 1 "" nsv818112 1 25392210 25398468 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417310 S 112 0 1 "" NA18608 nsv7187 1 25396205 25428584 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 nsv7298 1 25443655 25544725 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3995,nssv9806,nssv6442,nssv10899 M 9 0 4 C1orf63,RHD,TMEM50A NA12156,NA12878,NA15510,NA18507 nsv232 1 25445605 25544725 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv232 S 1 0 1 C1orf63,RHD,TMEM50A NA15510 nsv834469 1 25454993 25635122 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444218,nssv1444107,nssv1444162,nssv1444173,nssv1444118,nssv1444229,nssv1444129,nssv1444240,nssv1444185,nssv1444140,nssv1444196,nssv1444151,nssv1444207 M 95 2 11 RHCE,RHD,TMEM50A,TMEM57 nsv9768 1 25455902 25640203 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13764,nssv14749,nssv13088,nssv14417,nssv13438,nssv13743,nssv13083,nssv15105,nssv15111,nssv14101,nssv15433,nssv15435,nssv15434,nssv14742,nssv15450,nssv15764,nssv13413,nssv12115,nssv16744,nssv13100,nssv13771,nssv13416,nssv15763,nssv12770,nssv13106,nssv14747,nssv29252,nssv12772,nssv12776,nssv13108,nssv14745,nssv13434,nssv17074,nssv15102,nssv13418,nssv16428,nssv14751,nssv16094,nssv13086,nssv18443,nssv17404 M 31 21 1 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 nsv822143 1 25457603 25537973 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433413,nssv1430337,nssv1422364 M 31 0 3 RHD,TMEM50A AK16,NA18526,NA18552 nsv821372 1 25457603 25538019 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420280 S 1 0 1 RHD,TMEM50A NA10851 esv22615 1 25457812 25537782 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 25457932 25537445 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 25458023 25537400 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009924,esv990723 M 3 1 0 RHD,TMEM50A HuRef esv2421857 1 25461733 25534799 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5059401,essv5135973,essv5022476,essv5004315,essv5105392,essv5146558,essv5125283,essv5124398,essv5035013,essv5151593,essv5065734,essv5065928,essv5040974,essv5037893,essv5059254,essv5098695,essv5107616,essv5088003,essv5014510,essv5048811,essv5090060,essv5013628,essv5111829,essv5114671,essv5116093,essv5012871,essv5041714,essv5095554,essv5008221,essv5076093,essv5127709,essv5157994,essv5133094,essv5044349,essv5007583,essv5027267,essv5158031,essv5153623,essv5029243,essv5069482,essv5050338,essv5158872,essv5149523,essv5097618,essv5094217,essv5045154,essv5079399,essv5028430,essv5053235,essv5138232,essv5085338,essv5145360,essv5020838,essv5158951,essv5088120,essv5159485,essv5139596,essv5036702,essv5080575,essv5152069,essv5138781,essv5091441,essv5147272,essv5030906,essv5005217,essv5122992,essv5017876,essv5076799,essv5048844,essv5010391,essv5141824,essv5047152,essv5037688,essv5079981,essv5066634,essv5002879,essv5015901,essv5160623,essv5145980,essv5145070,essv5135986,essv5003958,essv5078382,essv5018977,essv5109110,essv5109647,essv5056096,essv5118643,essv5058251,essv5064492,essv5064974,essv5118565,essv5046481,essv5116136,essv5063196,essv5093377,essv5152955,essv5033301,essv5081685,essv5026739,essv5068241,essv5130611,essv5135218,essv5026235,essv5125910,essv5137308,essv5051480,essv5045453,essv5054376,essv5124630,essv5085137,essv5088678,essv5022767,essv5015825,essv5024154,essv5033915,essv5155256,essv5130404,essv5136383,essv5106070,essv5078911,essv5025353,essv5021910,essv5120740,essv5137751,essv5065371,essv5079059,essv5105366,essv5024098,essv5009459,essv5087504,essv5113590,essv5024213,essv5009799,essv5124430,essv5034606,essv5012855,essv5058217,essv5158180,essv5106123,essv5003226,essv5047766,essv5026565,essv5142656,essv5075759,essv5124283,essv5139792,essv5109869,essv5076833,essv5097823,essv5017260,essv5034343,essv5089551,essv5057653,essv5011384,essv5134977,essv5147235,essv5054650,essv5094025,essv5030807,essv5040904,essv5137440,essv5080406,essv5116489,essv5014447,essv5046028,essv5049421,essv5108293,essv5150897,essv5129477,essv5123139,essv5016090,essv5110081,essv5056058,essv5108066,essv5113423,essv5094802,essv5106367,essv5025268,essv5067157,essv5018521,essv5032508,essv5111735,essv5140307,essv5153011,essv5113903,essv5134935,essv5080467,essv5151764,essv5003234,essv5050184,essv5129683,essv5132018,essv5002344,essv5111192,essv5024116,essv5039265,essv5063006,essv5047101,essv5007672,essv5032861,essv5096259,essv5058426,essv5058514,essv5042292,essv5105430,essv5140020,essv5149063,essv5114255,essv5055329,essv5073133,essv5062085,essv5143138,essv5078460,essv5025216,essv5028365,essv5067947,essv5060529,essv5029065,essv5033550,essv5141369,essv5151146,essv5108756,essv5064696,essv5008817,essv5112124,essv5014373,essv5087858,essv5042185,essv5080281,essv5073403,essv5007066,essv5130660,essv5016991,essv5091094,essv5033778,essv5044887,essv5153490,essv5133133,essv5055624,essv5025602,essv5159704,essv5130794,essv5016506,essv5115319,essv5047974,essv5059029,essv5147839,essv5033407,essv5082929,essv5053389,essv5047250,essv5065254,essv5089045,essv5017565,essv5078218,essv5119807,essv5109954,essv5037110,essv5083652,essv5147588,essv5128172,essv5116864,essv5039765,essv5050776,essv5049893,essv5055335,essv5146020,essv5002183,essv5070189,essv5057263,essv5152295,essv5108701,essv5133677,essv5132115,essv5147945,essv5039122,essv5046501,essv5003311,essv5158896,essv5058769,essv5116211,essv5099909,essv5004352,essv5072538,essv5118360,essv5142111,essv5113628,essv5017327,essv5066801,essv5158850,essv5157141,essv5089478,essv5150619,essv5088421,essv5055292,essv5046014,essv5059195,essv5089622,essv5065634,essv5131302,essv5016370,essv5094386,essv5087709,essv5037645,essv5130239,essv5024612,essv5076452,essv5136938,essv5043793,essv5004232,essv5035986,essv5012416,essv5133792,essv5054446,essv5002155,essv5128808,essv5117026,essv5091674,essv5142370,essv5056633,essv5079054,essv5130187,essv5142820,essv5009261,essv5025505,essv5008097,essv5128978,essv5068330,essv5058796,essv5067460,essv5073065,essv5034340,essv5059333,essv5090256,essv5141412,essv5009382,essv5091462,essv5147815,essv5144277,essv5003442,essv5020784,essv5016021,essv5096398,essv5003366,essv5136889,essv5155647,essv5095663,essv5128183,essv5131476,essv5023035,essv5077667,essv5154564,essv5157623,essv5150816,essv5017143,essv5066670,essv5023178,essv5157836,essv5057948,essv5156244,essv5010813,essv5157677,essv5053567,essv5022144,essv5007440,essv5143932,essv5156202,essv5018506,essv5070008,essv5037674,essv5105085,essv5048597,essv5124582,essv5125039,essv5148164,essv5082433,essv5121511,essv5113984,essv5152554,essv5038039,essv5099229,essv5123095,essv5082163,essv5154775,essv5044859,essv5056082,essv5023208,essv5122226,essv5143595,essv5080950,essv5128345,essv5115091,essv5128108,essv5118896,essv5134564,essv5069190,essv5010857,essv5120048,essv5121794,essv5125105,essv5135855,essv5151355,essv5033012,essv5122105,essv5053175,essv5113393,essv5082883,essv5130740,essv5092242,essv5122788,essv5133513,essv5014537,essv5145086,essv5047169,essv5138177,essv5083463,essv5021447,essv5028311 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 dgv199n71 1 25462210 25537253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871877,nsv870828 M 6533 0 2 RHD SP56089,SP56380 nsv433185 1 25462210 25537253 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 nsv820028 1 25463365 25536785 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418757 S 2 1 0 RHD AK1 nsv498667 1 25463557 25535542 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585437 S 9 0 1 RHD nsv7174 1 25464374 25590811 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 25465250 25536194 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 nsv442830 1 25465715 25534592 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RHD nsv7409 1 25467919 25500774 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4006 S 9 1 0 RHD NA12878 nsv822154 1 25468568 25538019 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431065,nssv1429556 M 31 2 0 RHD,TMEM50A AK14,AK18 esv2451224 1 25469238 25531749 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204513 S 1 0 1 RHD NA18507 nsv482212 1 25471568 25529523 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558573 S 1 1 0 RHD KB1 esv29949 1 25482036 25536138 CNV Gain Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84188 S 3 1 0 RHD WATSON esv29997 1 25488723 25521045 CNV Gain 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 essv84236 S 2 1 0 RHD HuRef nsv821617 1 25510392 25559491 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421385,nssv1421396 M 31 0 2 RHD,TMEM50A nsv834480 1 25511185 25641885 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444251 S 95 1 0 RHCE,RHD,TMEM50A,TMEM57 nsv499798 1 25528107 25565790 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585484 S 9 0 0 RHCE,RHD,TMEM50A nsv870470 1 25532274 25786806 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569801 S 6533 1 0 LDLRAP1,RHCE,TMEM50A,TMEM57 IS31712 dgv200n71 1 25538558 25568422 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870991,nsv871429,nsv870814,nsv871105,nsv870612,nsv871846,nsv870910 M 6533 27 0 RHCE,TMEM50A SP50561,SP51043,SP51109,SP51161,SP51260,SP52064,SP52175,SP52455,SP52661,SP52728,SP53368,SP54517,SP54561,SP54760,SP55056,SP55569,SP55843,SP56248,SP56313,SP56937,SP56975,SP57217,SP57341,SP57501,SP57672,SP58215,SP80936 nsv870798 1 25538830 25551823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506396,nssv1514047 M 6533 2 0 TMEM50A SP54294,SP55911 nsv870522 1 25543044 25605135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504674 S 6533 0 1 RHCE,TMEM50A SP52708 nsv871967 1 25545393 25605135 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512376 S 6533 1 0 RHCE,TMEM50A SP55465 nsv870477 1 25553431 25568422 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514048 S 6533 1 0 RHCE,TMEM50A SP55911 esv996331 1 25561153 25623155 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586287 S 3 1 0 RHCE,TMEM50A HuRef esv28510 1 25561198 25624359 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21345,esv16269,esv10711 M 451 23 7 RHCE,TMEM50A NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv482037 1 25561328 25619950 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558398 S 1 1 0 RHCE,TMEM50A KB1 nsv7479 1 25584324 25617005 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6452 S 9 1 0 RHCE NA12156 nsv870937 1 25620994 25641524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511312 S 6533 0 1 TMEM57 SP55021 nsv870664 1 25627688 25670710 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514671 S 6533 0 1 TMEM57 SP56047 esv2570786 1 25631110 25632621 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375032 S 1 0 1 TMEM57 NA18507 nsv834491 1 25925489 26113195 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444273,nssv1444262 M 95 0 2 C1orf135,FAM54B,LOC646471,MAN1C1,MIR3917,PAQR7,SEPN1,STMN1 nsv871186 1 25942094 26017261 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569802 S 6533 1 0 MAN1C1,SEPN1 IS31712 nsv819900 1 25961529 25965424 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419585 S 2 1 0 MAN1C1 AK1 esv2116011 1 25966663 25967529 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648407 S 1 0 1 MAN1C1 NA18507 nsv460884 1 25977560 26090671 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537367 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf135,FAM54B,LOC646471,MAN1C1,PAQR7,SEPN1,STMN1 HGDP01023 nsv7490 1 25996935 26042615 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6462 S 9 0 1 C1orf135,FAM54B,LOC646471,SEPN1 NA12156 esv2353706 1 26007187 26007636 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4547374 S 1 0 1 SEPN1 NA18507 esv1998326 1 26021366 26022037 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882212 S 1 0 1 FAM54B,LOC646471 NA18507 nsv834502 1 26033359 26186506 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444284 S 95 1 0 C1orf135,MIR3917,PAFAH2,PAQR7,STMN1 nsv822165 1 26035402 26035875 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423950 S 31 0 1 C1orf135 NA18582 nsv871062 1 26061212 26156548 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569803 S 6533 1 0 MIR3917,PAQR7,STMN1 IS31712 nsv834513 1 26122058 26286463 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444296 S 95 1 0 EXTL1,PAFAH2,SLC30A2,TRIM63 nsv7501 1 26186060 26219501 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4016 S 9 1 0 PAFAH2 NA12878 nsv871353 1 26208516 26253392 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571847 S 6533 0 1 EXTL1,SLC30A2,TRIM63 IS32841 nsv508678 1 26250144 26305214 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622761 S 4 0 1 TRIM63 NA18994 nsv511129 1 26322688 26340581 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626365 S 1 0 1 PDIK1L 1 nsv819393 1 26322882 26323584 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419064 S 2 0 1 PDIK1L AK1 nsv7512 1 26327011 26355920 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv983,nssv6471 M 9 0 2 "" NA12156,NA19240 nsv822176 1 26328727 26337042 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437563,nssv1423951,nssv1437934,nssv1434164 M 31 4 0 "" NA18547,NA18570,NA18582,NA18951 nsv511685 1 26331902 26337511 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626324 S 1 0 1 "" 1 esv23014 1 26332157 26337219 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20260 S 451 23 0 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA12004,NA12006,NA12239,NA12489,NA12749,NA12878,NA15510,NA18502,NA18517,NA18523,NA18858,NA18861,NA18916,NA19099,NA19114,NA19129,NA19190,NA19257 nsv498668 1 26332682 26337394 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585448 S 9 0 1 "" nsv821140 1 26333085 26337699 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420292 S 1 0 1 "" NA10851 nsv822187 1 26333085 26337699 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428821,nssv1421447,nssv1423112,nssv1427250,nssv1431066,nssv1432052,nssv1431801,nssv1428020,nssv1436333,nssv1430338,nssv1437220,nssv1425491,nssv1422365 M 31 0 13 "" AK10,AK12,AK16,AK18,AK20,AK4,AK8,NA18542,NA18552,NA18949,NA18972,NA18997,NA18999 nsv514923 1 26333144 26336748 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628445 S 1414 0 0 "" esv2202284 1 26343585 26343998 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736067 S 1 0 1 "" NA18507 nsv871237 1 26355143 26388447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509733 S 6533 0 1 CNKSR1,GRRP1,ZNF593 SP54956 esv4795 1 26362364 26362929 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27236 S 1 0 1 Single Asian sample YH "" YH nsv160685 1 26362400 26362725 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179263 M 24 "" esv1290851 1 26362410 26362736 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833066 S 2 0 1 "" HuRef esv9535 1 26362434 26362726 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31976 S 1 0 1 "" SJK dgv201n71 1 26393727 26442596 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871627,nsv871728 M 6533 3 0 CATSPER4,CEP85 MS25751,SP50856,SP54720 nsv871165 1 26530978 26582091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592101 S 6533 0 1 AIM1L,ZNF683 IS39233 esv1007945 1 26544094 26544144 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584480 S 3 0 1 AIM1L HuRef esv1693475 1 26544109 26544160 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874525 S 2 0 1 AIM1L HuRef esv993255 1 26544116 26544166 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572032 S 3 0 1 AIM1L HuRef esv1056005 1 26598890 26598890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860909 S 2 1 0 "" HuRef esv1539325 1 26598896 26598896 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612388 S 2 1 0 "" HuRef dgv202n71 1 26658513 26772031 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871510,nsv871045 M 6533 0 2 DHDDS,HMGN2,MIR1976,RPS6KA1 IS37646,MS17208 nsv526179 1 26733868 26778154 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702441 S 2026 1 0 MIR1976,RPS6KA1 esv8356 1 26794328 26794391 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30797 S 1 1 0 "" SJK nsv7175 1 26797061 26886029 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5431,nssv10774,nssv6489,nssv9811,nssv994,nssv6480,nssv1994,nssv4025,nssv5440 M 9 0 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 esv994838 1 26837438 26849722 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564799 S 3 0 0 "" HuRef dgv2n50 1 26838846 26847109 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513635,nsv513634 M 1 0 0 "" 1 nsv499540 1 26839406 26845950 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585485 S 9 0 0 "" esv1761897 1 26840409 26845806 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4032934 S 2 0 0 "" HuRef nsv822198 1 26843335 26845358 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427251 S 31 1 0 "" AK8 esv275548 1 26869653 26898376 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586060 S 1250 0 1 ARID1A esv1007463 1 26882488 26887236 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565285 S 3 1 0 "" HuRef nsv7523 1 26940776 26985618 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8873 S 9 0 1 ARID1A NA12156 nsv870975 1 26985048 27030931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509734 S 6533 0 1 PIGV,ZDHHC18 SP54956 nsv820211 1 26999996 27023596 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418692 S 2 0 1 "" AK1 nsv834524 1 27029262 27193580 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444340,nssv1444318,nssv1444307,nssv1444373,nssv1444351,nssv1444362,nssv1444329 M 95 2 5 C1orf172,GPATCH3,GPN2,NR0B2,NUDC,SFN,TRNP1,ZDHHC18 nsv7535 1 27056171 27076901 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9264 S 9 1 0 SFN NA18517 nsv508689 1 27111540 27158584 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620126 S 4 0 1 C1orf172,NR0B2,NUDC NA15510 esv1159948 1 27126362 27126362 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022881 S 2 1 0 NUDC HuRef nsv870497 1 27188765 27218338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509735 S 6533 0 1 FAM46B,TRNP1 SP54956 nsv834535 1 27205663 27379004 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444384,nssv1444395 M 95 1 1 FAM46B,SLC9A1 nsv509058 1 27267926 27308443 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623778 S 4 1 0 SLC9A1 NA18994 esv2498789 1 27285352 27285762 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196385 S 1 1 0 "" NA18507 esv28309 1 27337400 27338705 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14516 S 451 0 2 SLC9A1 NA19108,NA19114 esv1220296 1 27359590 27360237 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949051 S 2 0 1 "" HuRef nsv526051 1 27483333 27644596 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702288 S 2026 1 0 CD164L2,FCN3,GPR3,LOC644961,MAP3K6,SYTL1,TMEM222,WASF2,WDTC1 dgv203n71 1 27483333 27804285 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871906,nsv870868 M 6533 0 2 AHDC1,CD164L2,FCN3,GPR3,LOC644961,MAP3K6,SYTL1,TMEM222,WASF2,WDTC1 MS10311,MS17208 nsv516766 1 27534822 27604238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654983,nssv670705 M 2026 0 2 CD164L2,FCN3,GPR3,MAP3K6,SYTL1,TMEM222,WASF2 dgv204n71 1 27544285 27568364 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870964,nsv871238,nsv870756 M 6533 0 3 FCN3,MAP3K6,SYTL1 SP54043,SP54725,SP54988 nsv870665 1 27552384 27578152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509736 S 6533 0 1 FCN3,MAP3K6,SYTL1 SP54956 esv1006916 1 27565654 27579596 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565148 S 3 0 1 CD164L2,FCN3,MAP3K6 HuRef dgv14n27 1 27644596 27817946 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460895,nsv460906 M 1557 0 2 AHDC1,FGR,WASF2 1780854103_A,HGDP00861 dgv205n71 1 27673069 27823714 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871344,nsv870647 M 6533 0 2 AHDC1,FGR,WASF2 IS37646,MS16153 esv2459986 1 27675886 27677456 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207086 S 1 0 1 WASF2 NA18507 esv2248480 1 27676502 27677228 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593459 S 1 0 1 WASF2 NA18507 esv4796 1 27676654 27677123 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27237 S 1 0 1 Single Asian sample YH WASF2 YH esv2049917 1 27688425 27688740 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809581 S 1 0 1 WASF2 NA18507 nsv159932 1 27688490 27688572 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178510 M 24 WASF2 nsv460917 1 27721887 27810043 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537395 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AHDC1 HGDP00890 nsv522842 1 27721887 27884441 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698494 S 2026 1 0 AHDC1,FGR,IFI6 dgv206n71 1 27722525 27804285 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870862,nsv871168 M 6533 0 2 AHDC1 IS33684,IS39233 dgv207n71 1 27722525 27838479 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870747,nsv871256,nsv871871 M 6533 0 3 AHDC1,FGR IS32737,IS32841,SP54956 nsv520790 1 27731623 27749069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697612 S 2026 0 1 AHDC1 esv6834 1 27746665 27746744 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29275 S 1 1 0 AHDC1 SJK nsv508700 1 27755741 27852783 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620127 S 4 0 1 AHDC1,FGR NA15510 esv28987 1 27794010 27794965 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17459 S 451 0 1 AHDC1 NA12006 esv3938 1 27807843 27808388 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26379 S 1 0 1 Single Asian sample YH "" YH esv2527619 1 27807978 27808106 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200455 S 1 0 1 "" NA18507 esv259985 1 27851778 27852159 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399752,essv2398846,essv2394410,essv2398728,essv2398379 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12828,NA18582,NA18943,NA19005,NA19093 nsv160061 1 27852023 27852023 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178639 M 24 "" nsv509069 1 28016558 28105054 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621088 S 4 1 0 C1orf38,PPP1R8,RPA2,SCARNA1,STX12 NA15510 nsv511686 1 28051801 28054617 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626325 S 1 0 1 "" 1 nsv871591 1 28060303 28154879 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596808 S 6533 1 0 C1orf38,RPA2,SMPDL3B IS40646 nsv160741 1 28073149 28074083 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179319 M 24 C1orf38 nsv870553 1 28076240 28113235 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505646,nssv1513451 M 6533 2 0 C1orf38,RPA2 SP53791,SP55765 nsv512728 1 28077278 28077556 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625353 S 1 1 0 C1orf38 1 nsv871458 1 28081953 28140456 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524455 S 6533 1 0 C1orf38,RPA2,SMPDL3B SP55028 esv2400943 1 28120208 28120877 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647745 S 1 0 1 "" NA18507 esv3840 1 28120309 28120757 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26281 S 1 0 1 Single Asian sample YH "" YH esv6007 1 28120391 28120709 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28448 S 1 0 1 "" SJK esv1132135 1 28120394 28120703 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106955 S 2 0 1 "" HuRef esv2255639 1 28200372 28200819 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919567 S 1 0 1 EYA3 NA18507 esv2641492 1 28200543 28200642 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244068 S 1 0 1 EYA3 NA18507 nsv871151 1 28305136 28512480 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558425 S 6533 1 0 ATPIF1,DNAJC8,PTAFR,SESN2 MS23257 nsv7546 1 28364799 28382553 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8875 S 9 0 1 PTAFR NA12156 dgv208n71 1 28436866 28698928 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871033,nsv871702 M 6533 2 0 ATPIF1,MED18,PHACTR4,SESN2 IS32843,MS16060 nsv819729 1 28437053 28444819 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419841 S 2 0 1 ATPIF1 AK1 esv994212 1 28469991 28480057 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564064 S 3 0 1 SESN2 HuRef esv2452579 1 28493653 28495158 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173712 S 1 0 1 "" NA18507 esv1987510 1 28494019 28494439 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722951 S 1 0 1 "" NA18507 nsv870624 1 28510846 28646735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504953 S 6533 1 0 MED18,PHACTR4 SP52914 esv27407 1 28525684 28527481 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20171 S 451 0 2 "" NA18861,NA19129 nsv7557 1 28536220 28568097 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4043,nssv1003,nssv2893,nssv6496 M 9 4 0 "" NA12156,NA12878,NA18555,NA19240 nsv7568 1 28580390 28611219 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2004 S 9 1 0 PHACTR4 NA18555 nsv506924 1 28807179 28813179 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619229 S 4 1 0 TAF12 NA10860 nsv819244 1 28810774 28820198 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418577 S 2 0 1 TAF12 AK1 nsv822209 1 28822555 28828270 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439451 S 31 0 1 TAF12 NA18537 esv27154 1 28881153 28882469 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17553 S 451 0 1 GMEB1 NA12489 nsv509080 1 28925638 28954514 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621089 S 4 1 0 YTHDF2 NA15510 nsv160265 1 28950199 28952457 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178843 M 24 YTHDF2 dgv3n21 1 28980482 29017775 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525553,nsv517547 M 2026 0 3 OPRD1 nsv460928 1 28980482 29038725 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537404 S 1557 0 1 OPRD1 1782681216_A nsv519203 1 28980482 29047960 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696691 S 2026 1 0 OPRD1 nsv871326 1 29001138 29076494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553569 S 6533 0 1 OPRD1 MS20195 nsv525310 1 29011562 29017775 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701417 S 2026 0 1 OPRD1 nsv511687 1 29176875 29179033 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626326 S 1 0 1 EPB41 1 esv25713 1 29177014 29178897 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18451 S 451 0 2 EPB41 NA18517,NA18858 nsv7579 1 29220048 29264692 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4053 S 9 0 1 EPB41 NA12878 nsv509091 1 29302319 29362998 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619783 S 4 1 0 EPB41,SRSF4,TMEM200B NA10860 nsv871249 1 29415224 29542828 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558426 S 6533 1 0 MECR,PTPRU MS23257 nsv822220 1 29434584 29437978 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433414 S 31 1 0 PTPRU NA18526 nsv834546 1 29444869 29632888 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444407,nssv1444418 M 95 0 2 PTPRU nsv871120 1 29608803 29666834 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558427 S 6533 1 0 "" MS23257 nsv7590 1 29708903 29740480 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5449 S 9 1 0 "" NA19129 esv1675706 1 29717841 29717841 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292225 S 2 1 0 "" HuRef esv2513036 1 29717842 29717917 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332447 S 1 0 1 "" NA18507 esv271099 1 29734959 29735262 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494177,essv2504033,essv2496163,essv2495487,essv2509626,essv2497068,essv2502137 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18505,NA18511,NA18916,NA19129,NA19190,NA19257 nsv870907 1 29743041 29944582 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589574 S 6533 1 0 "" IS38384 dgv4n21 1 29906089 29907258 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv526370,nsv521489 M 2026 2 0 "" esv1005469 1 29907304 29912882 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565186 S 3 0 1 "" HuRef esv1779209 1 29923618 29923669 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956446 S 2 0 1 "" HuRef nsv7601 1 29930656 29957535 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2014 S 9 1 0 "" NA18555 nsv509102 1 29945493 30010314 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619784 S 4 1 0 "" NA10860 esv1170546 1 30016746 30016746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038385 S 2 1 0 "" HuRef esv1184465 1 30016800 30016800 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058687 S 2 1 0 "" HuRef nsv870789 1 30032312 30459715 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589575 S 6533 1 0 "" IS38384 esv8236 1 30117864 30118631 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30677 S 1 0 1 "" SJK nsv460951 1 30141470 30175555 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537426 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00976 nsv7612 1 30153177 30198112 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8893 S 9 0 1 "" NA12156 esv1002943 1 30192852 30204151 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563870 S 3 0 1 "" HuRef nsv7623 1 30199030 30231539 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6516 S 9 1 0 "" NA12156 nsv515814 1 30258715 30260927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667788,nssv664863,nssv683554,nssv658372,nssv668377,nssv657229 M 2026 0 6 "" esv25779 1 30304515 30305330 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10698 S 451 1 0 "" NA19099 nsv7634 1 30304693 30325671 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8909 S 9 0 1 "" NA12156 nsv834558 1 30361070 30540999 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444429 S 95 1 0 "" esv2072629 1 30436704 30437184 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969544 S 1 0 1 "" NA18507 nsv870535 1 30442056 30522142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558428 S 6533 1 0 "" MS23257 esv29671 1 30461256 30466400 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15135,esv20952 M 451 0 2 "" NA11894,NA18517 dgv45e1 1 30478922 30514243 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20474,essv24093,essv20991,esv1036,essv17690 M 271 0 0 "" NA07048,NA10835,NA10863,NA12249 nsv871395 1 30484400 30549676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580216 S 6533 0 1 "" IS35244 essv23694 1 30509960 30512383 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. "" NA12740 esv26727 1 30510995 30512660 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17301 S 451 0 3 "" NA12414,NA12489,NA15510 essv23632 1 30511019 30514083 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. "" NA07055 nsv9879 1 30511057 30513066 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14079,nssv13746 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA12740 nsv7646 1 30544833 30578979 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1013 S 9 1 0 "" NA19240 esv27233 1 30546544 30547144 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11685 S 451 1 0 "" NA18861 nsv834569 1 30550650 30704943 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444440 S 95 1 0 "" nsv871498 1 30616707 30646056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597265,nssv1543360 M 6533 0 2 "" IS40799,MS16153 nsv509113 1 30636578 30654856 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621090,nssv623779,nssv619785,nssv617991 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv7657 1 30644163 30655616 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4077,nssv1022 M 9 2 0 "" NA12878,NA19240 nsv499355 1 30651101 30651402 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586152 S 9 1 0 "" esv2214908 1 30654964 30655384 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593443 S 1 0 1 "" NA18507 nsv7668 1 30660933 30706220 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8924 S 9 0 1 "" NA12156 nsv834580 1 30665224 30827346 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444451 S 95 0 1 "" nsv520401 1 30753373 30758238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697394 S 2026 0 1 "" esv8551 1 30806429 30806639 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30992 S 1 0 0 "" SJK esv6950 1 30813243 30814250 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29391 S 1 0 1 "" SJK nsv871762 1 30869567 30921543 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558429 S 6533 1 0 "" MS23257 nsv7679 1 30880511 30914143 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10785,nssv1031 M 9 2 0 "" NA18956,NA19240 nsv460995 1 30886310 31044638 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537451 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LAPTM5,LOC100129196,MATN1,MIR4420 HGDP01203 esv6869 1 30895308 30897199 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29310 S 1 0 1 "" SJK esv24111 1 30896875 30897370 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11013 S 451 1 0 "" NA12287 esv1182314 1 30897176 30897176 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283188 S 2 1 0 "" HuRef nsv512730 1 30900874 30901206 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625356 S 1 1 0 "" 1 nsv871304 1 30940148 31011083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546458 S 6533 0 1 LAPTM5,LOC100129196,MATN1,MIR4420 MS17208 esv26125 1 30942241 30944401 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10436 S 451 0 3 "" NA18907,NA19099,NA19240 nsv509124 1 30956044 31005140 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619786 S 4 1 0 LAPTM5,LOC100129196,MATN1,MIR4420 NA10860 esv1007398 1 30975685 30977627 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565079 S 3 1 0 "" HuRef nsv512731 1 30977722 30977961 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625357 S 1 1 0 LAPTM5 1 nsv7690 1 31004937 31035943 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5460 S 9 1 0 "" NA19129 esv1920491 1 31017065 31017455 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4835916 S 1 0 1 "" NA18507 nsv160695 1 31017158 31017249 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179273 M 24 "" esv1626816 1 31017248 31017342 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654771 S 2 0 1 "" HuRef nsv159749 1 31017249 31017342 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178327 M 24 "" nsv159205 1 31018594 31018594 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177783 M 24 "" esv4431 1 31021624 31022114 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26872 S 1 0 1 Single Asian sample YH "" YH esv1377768 1 31021740 31021811 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095672 S 2 0 1 "" HuRef nsv519204 1 31110004 31174735 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696692 S 2026 1 0 SDC3 nsv461006 1 31119907 31148156 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537462 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SDC3 HGDP01077 nsv470707 1 31134811 31190045 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547720 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PUM1,SDC3,SNORD103A,SNORD103B HGDP01049 esv2244846 1 31139876 31140318 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4651898 S 1 0 1 SDC3 NA18507 nsv160596 1 31139968 31140032 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179174 M 24 SDC3 nsv160199 1 31140093 31140159 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178777 M 24 SDC3 nsv7701 1 31211445 31241511 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10787 S 9 1 0 PRO0611,PUM1,SNORD85 NA18956 nsv506925 1 31244010 31250010 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617528,nssv623266,nssv619230 M 4 3 0 PUM1 CHM,NA10860,NA18994 nsv508711 1 31330841 31437982 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618969 S 4 0 1 NKAIN1 NA10860 esv21850 1 31347232 31348424 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11728 S 451 0 1 "" NA12878 nsv870772 1 31391353 31434508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509738 S 6533 0 1 NKAIN1 SP54956 esv274929 1 31394002 31397976 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585894 S 1250 0 1 "" nsv870693 1 31445850 31487225 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557061 S 6533 0 1 NKAIN1 MS22353 nsv160707 1 31449037 31450756 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179285 M 24 NKAIN1 dgv46e1 1 31454967 32238918 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19201,esv639,essv24452 M 271 0 0 BAI2,COL16A1,FABP3,HCRTR1,LOC149086,LOC284551,MIR4254,NKAIN1,PEF1,PTP4A2,SERINC2,SNRNP40,SPOCD1,TINAGL1,ZCCHC17 NA12865 esv21860 1 31469492 31470357 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18661 S 451 0 8 NKAIN1 NA18505,NA18523,NA18861,NA18907,NA18909,NA19129,NA19190,NA19257 nsv9990 1 31492563 31496044 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15765 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 nsv822231 1 31492567 31494342 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438184,nssv1439453 M 31 0 2 "" NA18537,NA18592 esv1672561 1 31497487 31497487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730001 S 2 1 0 "" HuRef nsv161067 1 31504561 31513729 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179645 M 24 SNRNP40 nsv10051 1 31506872 31509756 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16093 S 31 1 0 Samples from several populations that are part of the HapMap project. SNRNP40 NA18504 esv1665695 1 31590996 31590996 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776205 S 2 1 0 ZCCHC17 HuRef esv1003353 1 31615089 31622196 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564863 S 3 0 1 FABP3 HuRef nsv520589 1 31628061 31630585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697507 S 2026 0 1 "" esv1538435 1 31632360 31632734 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880925 S 2 0 1 "" HuRef nsv7712 1 31659995 31688285 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6532,nssv4085,nssv1039,nssv5468 M 9 4 0 SERINC2 NA12156,NA12878,NA19129,NA19240 nsv509135 1 31666005 31717658 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619787,nssv621091 M 4 2 0 SERINC2 NA10860,NA15510 esv1004118 1 31676044 31677315 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564081 S 3 1 0 SERINC2 HuRef esv21814 1 31677152 31677661 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12924 S 451 2 0 SERINC2 NA12156,NA12287 esv1133300 1 31677421 31677421 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979486 S 2 1 0 SERINC2 HuRef esv1676191 1 31677571 31677571 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990095 S 2 1 0 SERINC2 HuRef nsv509147 1 31733210 31765262 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623780,nssv617992,nssv621092,nssv619788 M 4 4 0 LOC149086,LOC284551 CHM,NA10860,NA15510,NA18994 nsv7723 1 31734799 31765936 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2021,nssv5475,nssv1048,nssv6542,nssv10798,nssv4095 M 9 6 0 LOC149086,LOC284551 NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 esv1008042 1 31738859 31761805 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565286 S 3 1 0 LOC149086,LOC284551 HuRef esv1047143 1 31740406 31740406 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825409 S 2 1 0 "" HuRef esv2559743 1 31744072 31766217 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234776 S 1 0 0 LOC149086,LOC284551 NA18507 esv1513298 1 31744131 31744131 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602292 S 2 1 0 "" HuRef nsv7734 1 31773326 31802980 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6550 S 9 1 0 "" NA12156 esv4808 1 31784311 31784825 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27249 S 1 0 1 Single Asian sample YH "" YH nsv10062 1 31809488 31861569 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14086,nssv15780 M 31 1 1 Samples from several populations that are part of the HapMap project. HCRTR1,TINAGL1 NA18552,NA19221 esv1695245 1 31817131 31817196 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937819 S 2 0 1 TINAGL1 HuRef dgv209n71 1 31834653 31982056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871735,nsv871205 M 6533 0 2 BAI2,COL16A1,HCRTR1,PEF1 MS13770,MS19771 nsv470708 1 31865112 31919351 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547721 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL16A1,HCRTR1,PEF1 HGDP00546 nsv818123 1 31906324 31919351 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415933 S 112 0 1 COL16A1 NA12750 nsv870517 1 31914941 31933505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499431 S 6533 0 1 COL16A1 SP50159 nsv528364 1 31919351 31929596 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704951 S 2026 0 1 COL16A1 nsv461028 1 31938082 31987765 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537481 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BAI2,COL16A1 HGDP00433 dgv210n71 1 31961581 32019683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870597,nsv871574 M 6533 0 2 BAI2,MIR4254 SP54956,SP54988 esv2517616 1 32045190 32046215 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181268 S 1 1 0 SPOCD1 NA18507 nsv870880 1 32053197 32115955 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558430 S 6533 1 0 SPOCD1 MS23257 nsv822242 1 32053586 32054159 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431802 S 31 0 1 SPOCD1 AK20 esv260047 1 32053879 32054161 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395624,essv2394436,essv2400980,essv2396370 M 144 0 0 Samples from several populations that are part of the HapMap project. SPOCD1 NA18501,NA18943,NA19099,NA19138 nsv160616 1 32053964 32053964 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179194 M 24 SPOCD1 esv33582 1 32135537 32184713 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98660 S 51 0 1 PTP4A2 21606 nsv834591 1 32144041 32298052 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444462 S 95 0 1 KHDRBS1,PTP4A2 esv2127776 1 32146113 32146564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820483 S 1 0 1 PTP4A2 NA18507 esv271107 1 32183835 32183920 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516107 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv10073 1 32220872 32225009 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16758 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 nsv820067 1 32221830 32224443 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419454 S 2 0 1 "" AK1 nsv822254 1 32222562 32224153 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428021,nssv1440121 M 31 0 2 "" AK10,NA18564 esv25480 1 32317183 32320556 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16902 S 451 0 1 TMEM39B NA11993 nsv7745 1 32422058 32430257 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10803 S 9 1 0 TXLNA NA18956 nsv300 1 32445100 32479877 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1059 S 9 1 0 DCDC2B,EIF3I,IQCC,MTMR9LP,TMEM234 NA19240 dgv211n71 1 32564945 32603693 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871957,nsv870591 M 6533 0 2 BSDC1,HDAC1,LOC100128071,MARCKSL1,TSSK3 SP54956,SP54988 esv7048 1 32605825 32605908 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29489 S 1 1 0 BSDC1 SJK nsv521689 1 32639304 32647867 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698309 S 2026 0 1 "" nsv517673 1 32647543 32647867 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656688,nssv658183,nssv652612,nssv665622,nssv660765,nssv683040,nssv658815,nssv654560,nssv654219,nssv693089,nssv671459,nssv664022 M 2026 0 12 "" nsv461039 1 32804999 32923538 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537491 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBBP4,SYNC,ZBTB8A,ZBTB8OS HGDP00017 esv2576617 1 32819170 32819844 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236514 S 1 1 0 ZBTB8A NA18507 nsv512732 1 32819193 32820196 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625358 S 1 1 0 ZBTB8A 1 esv1277305 1 32819375 32819375 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891525 S 2 1 0 ZBTB8A HuRef nsv519188 1 32857831 33019027 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696672 S 2026 0 1 KIAA1522,RBBP4,SYNC,YARS,ZBTB8OS nsv160489 1 32891848 32896738 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179067 M 24 RBBP4 nsv509158 1 32929901 33022008 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619789 S 4 1 0 KIAA1522,SYNC,YARS NA10860 nsv311 1 32949046 32968932 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8951 S 9 1 0 "" NA12156 nsv822265 1 32967265 32968667 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440808 S 31 1 0 "" NA18969 nsv322 1 32996547 33020183 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8957 S 9 0 1 KIAA1522,YARS NA12156 nsv516302 1 33093188 33152695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699367,nssv670847,nssv667416,nssv696432,nssv687923,nssv672465,nssv668935,nssv661821,nssv668150 M 2026 0 9 FNDC5,HPCA,S100PBP,TMEM54 dgv212n71 1 33122770 33143917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871455,nsv870946 M 6533 0 2 HPCA,TMEM54 SP54956,SP54988 nsv509169 1 33181825 33270093 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619790 S 4 1 0 AK2,RNF19B NA10860 nsv834602 1 33185879 33354409 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444473 S 95 0 1 ADC,AK2,RNF19B nsv512734 1 33224583 33224995 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625360 S 1 1 0 "" 1 esv2080204 1 33248839 33251558 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892698 S 1 0 1 AK2 NA18507 esv7538 1 33248939 33251497 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29979 S 1 0 1 AK2 SJK esv2326918 1 33251509 33259617 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754145 S 1 0 1 AK2 NA18507 esv1076420 1 33290084 33290084 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933980 S 2 1 0 "" HuRef esv1009865 1 33423449 33426525 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565473 S 3 1 0 "" HuRef nsv512735 1 33424398 33425033 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625361 S 1 1 0 "" 1 nsv520532 1 33463285 33468744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697472 S 2026 0 1 "" nsv524709 1 33504779 33510013 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700693 S 2026 0 1 ZNF362 nsv522364 1 33504779 33605520 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695144 S 2026 0 1 MIR3605,PHC2,ZNF362 nsv871813 1 33533330 33639689 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546459 S 6533 0 1 MIR3605,PHC2,ZNF362 MS17208 nsv516693 1 33557214 33592721 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689909,nssv670196,nssv657897,nssv687609 M 2026 0 4 MIR3605,PHC2 nsv834613 1 33572793 33734375 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444484 S 95 1 0 PHC2,ZSCAN20 esv1384773 1 33594482 33594482 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757381 S 2 1 0 PHC2 HuRef nsv333 1 33629945 33675095 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8973 S 9 0 1 "" NA12156 nsv161059 1 33643387 33649647 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179637 M 24 "" nsv344 1 33706402 33727595 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9819,nssv1070 M 9 2 0 ZSCAN20 NA18507,NA19240 nsv355 1 33774181 33807836 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5476 S 9 1 0 CSMD2 NA19129 nsv819833 1 33797262 33797607 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418793 S 2 1 0 CSMD2 AK1 esv22194 1 33801325 33802207 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15686 S 451 0 1 CSMD2 NA19147 nsv518591 1 33801657 33805004 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696037 S 2026 0 1 CSMD2 esv25436 1 33813677 33815418 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9843 S 451 0 2 CSMD2 NA12006,NA12878 nsv366 1 33867154 33899542 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4102 S 9 1 0 CSMD2 NA12878 nsv524359 1 33983119 33985987 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700270 S 2026 1 0 CSMD2 nsv509180 1 34002911 34088610 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621093 S 4 1 0 CSMD2 NA15510 esv272149 1 34052621 34052921 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510989,essv2499525 M 157 2 0 Samples from several populations that are part of the HapMap project. CSMD2 NA07357,NA11831 esv27629 1 34066809 34067434 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13302 S 451 0 1 CSMD2 NA19257 nsv834624 1 34078260 34244419 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444495 S 95 0 1 CSMD2,HMGB4,LOC402779 nsv871907 1 34096074 34134418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578852 S 6533 0 1 CSMD2,HMGB4,LOC402779 IS34954 esv34112 1 34100866 34183579 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 CSMD2,HMGB4,LOC402779 esv25885 1 34179535 34184619 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15068 S 451 0 1 CSMD2 NA12044 nsv834635 1 34191925 34384562 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444506 S 95 1 0 CSMD2 nsv470709 1 34193283 34697183 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547724,nssv547725,nssv547722 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf94,CSMD2 HGDP00890,HGDP00982,HGDP00983 nsv834646 1 34286753 34461293 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444518 S 95 1 0 C1orf94,CSMD2 nsv461062 1 34316717 34319281 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537511 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD2 HGDP01317 esv2267346 1 34340556 34341056 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4953377 S 1 0 1 CSMD2 NA18507 nsv834657 1 34340673 34517053 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444529 S 95 1 0 C1orf94,CSMD2 esv1307103 1 34340765 34340860 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968445 S 2 0 1 CSMD2 HuRef nsv158970 1 34340791 34340885 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177548 M 24 CSMD2 nsv506926 1 34370267 34376267 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623267,nssv620650,nssv619231,nssv617529 M 4 4 0 CSMD2 CHM,NA10860,NA15510,NA18994 esv270278 1 34408902 34408997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511785,essv2493286,essv2509695,essv2501185,essv2494064,essv2509222,essv2501336,essv2506726,essv2493840 M 157 9 0 Samples from several populations that are part of the HapMap project. C1orf94 NA18499,NA18504,NA18508,NA18516,NA18871,NA18909,NA19093,NA19108,NA19210 nsv834669 1 34421604 34599428 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444540 S 95 1 0 C1orf94 nsv870648 1 34519267 34562882 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518416 S 6533 0 1 "" SP57553 nsv377 1 34528557 34558810 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2038 S 9 1 0 "" NA18555 nsv521016 1 34537561 34556271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697737 S 2026 0 1 "" nsv524723 1 34562882 34627215 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700709 S 2026 1 0 "" nsv870768 1 34586268 34785013 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558431 S 6533 1 0 "" MS23257 nsv528365 1 34594418 34607545 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704952 S 2026 0 1 "" nsv388 1 34636134 34681258 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8984 S 9 0 1 "" NA12156 nsv521683 1 34639243 34639955 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698303 S 2026 0 1 "" esv2497338 1 34779251 34779683 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255546 S 1 1 0 "" NA18507 nsv10084 1 34847046 34853646 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13436 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv243 1 34862127 34887178 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv243 S 1 0 1 "" NA15510 nsv399 1 34862127 34893747 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6567,nssv4111,nssv10904 M 9 0 3 "" NA12156,NA12878,NA15510 esv32563 1 34867574 34883404 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101290,essv96198,essv94955 M 51 3 0 "" 21805,22007,22231 nsv511144 1 34868239 34885771 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625599 S 1 0 1 "" 1 nsv10095 1 34869617 34884877 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12761,nssv14416,nssv14076 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA10863,NA12872,NA18552 dgv2n17 1 34870107 34885771 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437257,nsv437146,nsv437035,nsv437368 M 60 0 4 "" NA10830,NA10854,NA12753,NA12878 nsv870994 1 34870107 34915462 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600260,nssv1563767 M 6533 0 2 "" IS30067,IS41866 nsv870700 1 34870107 35005059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499717 S 6533 0 1 GJB4,GJB5 SP50598 nsv511688 1 34873412 34885449 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626327 S 1 0 1 "" 1 esv1009124 1 34873811 34890553 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564360 S 3 0 1 "" HuRef nsv498669 1 34874008 34884565 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585452 S 9 0 1 "" esv28454 1 34874894 34884557 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19701 S 451 0 14 "" NA07037,NA07045,NA12156,NA12414,NA12489,NA12828,NA12878,NA15510,NA18858,NA18861,NA18907,NA19099,NA19108,NA19147 nsv442849 1 34875241 34877078 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422091 1 34875241 34880863 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5056393,essv5063361,essv5148545,essv5059648,essv5066310,essv5158912,essv5095113,essv5058619,essv5069035,essv5126455,essv5135509,essv5158294,essv5155019,essv5095660,essv5033697,essv5046582,essv5002230,essv5035746,essv5115531,essv5142758,essv5112317,essv5039338,essv5072649,essv5020020,essv5058708,essv5059359,essv5006930,essv5007480,essv5104255,essv5030860,essv5125045,essv5104277,essv5006844,essv5076121,essv5018078,essv5135363,essv5065098,essv5078345,essv5102747,essv5019836,essv5139012,essv5027320,essv5127877,essv5112045,essv5080690,essv5095728,essv5002809,essv5056269,essv5028088,essv5030341,essv5044326,essv5080212,essv5016096,essv5076930,essv5023849,essv5144539,essv5095052,essv5138703,essv5012186,essv5023645,essv5089519,essv5123331,essv5017119,essv5084194,essv5123282,essv5086158,essv5102019,essv5018448,essv5138524,essv5044591,essv5076707,essv5103589,essv5155472,essv5023666,essv5099758,essv5094315,essv5141281,essv5044536,essv5127008,essv5136799,essv5046658,essv5046052,essv5005201,essv5152596,essv5140562,essv5077926,essv5046773,essv5017112,essv5051055,essv5152476,essv5058108,essv5093135,essv5120843,essv5066872,essv5049889,essv5044338,essv5131045,essv5100714,essv5072057,essv5080889,essv5117486,essv5157891,essv5012029,essv5100007,essv5158290,essv5097140,essv5016222,essv5043462,essv5063436,essv5090758,essv5089133,essv5122351,essv5081074,essv5055276,essv5073095,essv5078571,essv5044945,essv5107245,essv5096541,essv5129814,essv5150440,essv5062426,essv5005842,essv5123031,essv5151621,essv5124550,essv5038399,essv5117775,essv5018069,essv5082754,essv5031408,essv5041405,essv5002846,essv5101634,essv5160957,essv5044735,essv5114540,essv5156574,essv5077086,essv5032936,essv5087710,essv5135987,essv5012801,essv5128919,essv5022114,essv5094208,essv5054883,essv5089503,essv5119576,essv5066682,essv5048243,essv5010301,essv5056262,essv5109643,essv5007150,essv5034585,essv5127762,essv5122040,essv5115252,essv5021016,essv5082307,essv5118220,essv5075462,essv5028872,essv5078719,essv5035493,essv5033796,essv5148240,essv5092792,essv5022634,essv5131067,essv5025099,essv5006536,essv5026816,essv5112939,essv5118529,essv5135585,essv5057014,essv5094681,essv5061612,essv5029122,essv5054112,essv5015066,essv5121587,essv5044538,essv5032805,essv5131276,essv5043757,essv5051575,essv5049488,essv5090629,essv5069167,essv5018780,essv5149077,essv5129127,essv5056965,essv5061839,essv5041588,essv5088458,essv5069261,essv5157296,essv5148665,essv5058389,essv5088494,essv5145647,essv5118275,essv5144804,essv5160747,essv5041738,essv5050635,essv5078515,essv5066826,essv5030610,essv5072436,essv5035657,essv5076095,essv5041477,essv5100341,essv5095850,essv5071735,essv5110657,essv5031856,essv5067966,essv5143522,essv5137350,essv5132508,essv5051329,essv5050001,essv5051506,essv5148825,essv5100934,essv5120430,essv5146925,essv5128137,essv5010219,essv5027526,essv5068275,essv5022709,essv5051811,essv5086476,essv5106134,essv5134202,essv5116978,essv5014723,essv5101794,essv5116283,essv5105716,essv5004171,essv5144292,essv5118087,essv5100815,essv5096860,essv5107416,essv5014715,essv5061851,essv5147293,essv5131138,essv5118463,essv5124441,essv5106068,essv5065650,essv5051221,essv5134632,essv5054733,essv5027449,essv5096667,essv5156600,essv5120273,essv5117395,essv5030971,essv5149906,essv5027975,essv5031426,essv5065479,essv5083084,essv5087018,essv5056215,essv5008006 M 1184 0 278 "" NA06984,NA06993,NA06995,NA06997,NA07014,NA07031,NA07037,NA07045,NA07051,NA07056,NA07345,NA07348,NA07357,NA10830,NA10836,NA10853,NA10854,NA10856,NA10863,NA10864,NA10865,NA11829,NA11839,NA11843,NA11881,NA11882,NA11891,NA11893,NA11992,NA11995,NA12145,NA12154,NA12156,NA12234,NA12249,NA12264,NA12344,NA12347,NA12348,NA12375,NA12376,NA12399,NA12489,NA12751,NA12753,NA12763,NA12766,NA12775,NA12817,NA12828,NA12829,NA12830,NA12864,NA12865,NA12872,NA12873,NA12874,NA12878,NA12892,NA17965,NA17976,NA17995,NA17996,NA18101,NA18102,NA18112,NA18138,NA18149,NA18155,NA18484,NA18486,NA18497,NA18499,NA18520,NA18544,NA18548,NA18550,NA18552,NA18562,NA18566,NA18570,NA18582,NA18595,NA18612,NA18626,NA18630,NA18632,NA18633,NA18634,NA18636,NA18638,NA18643,NA18674,NA18702,NA18704,NA18747,NA18858,NA18861,NA18870,NA18940,NA18962,NA18964,NA18977,NA19001,NA19031,NA19036,NA19046,NA19057,NA19080,NA19087,NA19094,NA19095,NA19097,NA19099,NA19107,NA19108,NA19109,NA19117,NA19121,NA19123,NA19137,NA19138,NA19139,NA19147,NA19148,NA19171,NA19174,NA19178,NA19180,NA19181,NA19185,NA19186,NA19192,NA19194,NA19197,NA19199,NA19203,NA19206,NA19207,NA19208,NA19223,NA19224,NA19226,NA19235,NA19237,NA19248,NA19249,NA19308,NA19310,NA19315,NA19316,NA19359,NA19371,NA19373,NA19383,NA19384,NA19390,NA19393,NA19429,NA19430,NA19437,NA19445,NA19446,NA19448,NA19449,NA19452,NA19455,NA19463,NA19472,NA19625,NA19651,NA19652,NA19653,NA19660,NA19664,NA19669,NA19670,NA19671,NA19685,NA19708,NA19714,NA19716,NA19720,NA19721,NA19747,NA19756,NA19757,NA19761,NA19763,NA19774,NA19775,NA19779,NA19783,NA19784,NA19834,NA19836,NA19900,NA19902,NA19916,NA19985,NA20126,NA20276,NA20282,NA20284,NA20357,NA20358,NA20508,NA20534,NA20538,NA20541,NA20544,NA20582,NA20586,NA20588,NA20761,NA20765,NA20768,NA20770,NA20775,NA20783,NA20787,NA20792,NA20795,NA20805,NA20808,NA20828,NA20849,NA20850,NA20853,NA20854,NA20869,NA20903,NA20907,NA20910,NA21098,NA21106,NA21113,NA21118,NA21123,NA21301,NA21311,NA21312,NA21313,NA21314,NA21320,NA21333,NA21339,NA21359,NA21361,NA21362,NA21367,NA21381,NA21383,NA21399,NA21401,NA21403,NA21404,NA21408,NA21423,NA21438,NA21439,NA21447,NA21494,NA21513,NA21514,NA21520,NA21521,NA21522,NA21576,NA21599,NA21601,NA21611,NA21613,NA21617,NA21619,NA21685,NA21686,NA21825 nsv822276 1 34876536 34884526 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423954,nssv1435650,nssv1434165,nssv1422366 M 31 0 4 "" NA18552,NA18566,NA18570,NA18582 nsv513985 1 34876736 34877140 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627958 S 1414 0 1 "" nsv438366 1 34876909 34880863 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470407,nssv470074,nssv469740,nssv469629,nssv470296,nssv470185,nssv469963,nssv469851 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA10830,NA10854,NA11839,NA12154,NA12753,NA12763,NA12878,NA12892 nsv516954 1 34879856 34880863 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690846,nssv676247,nssv686521,nssv664843,nssv658164,nssv653496,nssv657679,nssv653936,nssv676478,nssv660609,nssv663637,nssv689139,nssv662596,nssv692397,nssv688198,nssv684981,nssv680832,nssv662263,nssv667647,nssv692641,nssv674550,nssv657434,nssv657451,nssv657127,nssv684742,nssv678549 M 2026 0 26 "" esv275560 1 34891253 34894026 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585833,essv2586164 M 1250 1 1 "" esv29315 1 34954800 34956844 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16964 S 451 1 0 "" NA06985 esv1494656 1 35015905 35015905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784790 S 2 1 0 "" HuRef esv1201116 1 35015937 35015937 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176670 S 2 1 0 "" HuRef esv1003104 1 35028945 35033854 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565781 S 3 0 1 GJA4 HuRef esv4188 1 35040365 35040824 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26629 S 1 0 1 Single Asian sample YH "" YH esv23746 1 35073744 35074245 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21340 S 451 0 1 "" NA12749 dgv213n71 1 35157192 35235074 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871268,nsv871926 M 6533 0 3 LOC653160,ZMYM6,ZMYM6NB SP54043,SP54956,SP57469 nsv870757 1 35157192 35709449 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558432 S 6533 1 0 KIAA0319L,LOC653160,SFPQ,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB MS23257 esv270039 1 35180401 35180667 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508515 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12717 nsv411 1 35181003 35213514 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2058 S 9 1 0 "" NA18555 nsv511093 1 35228973 35254861 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624359 S 4 0 0 ZMYM6 NA18994 nsv508138 1 35235115 35254861 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620128 S 4 0 1 ZMYM6 NA15510 esv2448755 1 35287381 35289073 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242554 S 1 0 1 "" NA18507 esv2012538 1 35288122 35289061 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802032 S 1 0 1 "" NA18507 nsv422 1 35352348 35356053 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2066 S 9 1 0 ZMYM1 NA18555 nsv509191 1 35361726 35409283 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617993 S 4 1 0 "" CHM nsv512736 1 35395196 35395413 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625362 S 1 1 0 "" 1 esv1688473 1 35395258 35395258 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937525 S 2 1 0 "" HuRef nsv508149 1 35425375 35523857 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618971 S 4 0 1 SFPQ,ZMYM4 NA10860 nsv818134 1 35482364 35514250 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417263 S 112 0 1 ZMYM4 NA18593 nsv870976 1 35482364 35655246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579786 S 6533 0 1 ZMYM4 IS35181 nsv822287 1 35553084 35553673 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423955 S 31 1 0 ZMYM4 NA18582 esv8737 1 35569598 35569664 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31178 S 1 1 0 ZMYM4 SJK nsv822298 1 35587625 35588785 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436334 S 31 0 1 ZMYM4 NA18542 esv32554 1 35656892 35666141 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100050 S 51 0 1 ZMYM4 22086 esv33735 1 35671707 35672683 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99911 S 51 1 0 KIAA0319L 22086 nsv870679 1 35796375 35819589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509743 S 6533 0 1 NCDN,TFAP2E SP54956 nsv433 1 35820645 35865600 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9000 S 9 0 1 PSMB2,TFAP2E NA12156 nsv871396 1 35888978 36425206 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558433 S 6533 1 0 ADPRHL2,C1orf216,CLSPN,COL8A2,EIF2C1,EIF2C3,EIF2C4,MAP7D1,TEKT2,TRAPPC3 MS23257 nsv834680 1 35898809 36130404 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444551 S 95 1 0 C1orf216,CLSPN,EIF2C1,EIF2C4 nsv525430 1 36014615 36098783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701556 S 2026 0 1 EIF2C4 nsv524683 1 36067219 36098783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700654 S 2026 0 1 EIF2C4 nsv526837 1 36140367 36152720 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703194 S 2026 0 1 EIF2C1 dgv214n71 1 36194128 36226603 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871096,nsv870949 M 6533 0 2 EIF2C3 SP56047,SP57472 nsv871752 1 36194128 36242188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505534 S 6533 0 1 EIF2C3 SP53687 esv269453 1 36247246 36247507 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2530504,essv2520845,essv2552469,essv2539106,essv2569698,essv2544706,essv2523858,essv2552982,essv2541246,essv2538187,essv2542777,essv2540400,essv2524667,essv2564797,essv2534872,essv2539843,essv2549515,essv2519629,essv2560064,essv2522145,essv2565942,essv2531216,essv2532494,essv2528796,essv2567345,essv2541814,essv2570089,essv2535805,essv2572299,essv2559256,essv2566874,essv2543664,essv2556182,essv2528146,essv2562282,essv2534007,essv2533522,essv2567165,essv2566409,essv2530084,essv2573760,essv2527554,essv2556087,essv2534403,essv2522532,essv2531283,essv2573417,essv2543157,essv2577035,essv2571986,essv2526966,essv2538552,essv2560938,essv2574708,essv2549743,essv2571400,essv2574254 M 157 57 0 Samples from several populations that are part of the HapMap project. EIF2C3 NA18486,NA18498,NA18502,NA18519,NA18520,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18870,NA18871,NA18907,NA18909,NA18916,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19108,NA19137,NA19138,NA19225,NA19238,NA19240 esv273679 1 36247248 36247434 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579335 S 7 1 0 Samples from several populations that are part of the HapMap project. EIF2C3 NA19239 nsv159158 1 36247282 36247282 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177736 M 24 EIF2C3 nsv518844 1 36269936 36304903 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694280 S 2026 0 1 EIF2C3 nsv834691 1 36297325 36476728 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444573,nssv1444562 M 95 0 2 ADPRHL2,COL8A2,MAP7D1,TEKT2,THRAP3,TRAPPC3 nsv871804 1 36307231 36399778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573163 S 6533 0 1 ADPRHL2,COL8A2,MAP7D1,TEKT2,TRAPPC3 IS33248 nsv870558 1 36350532 36425206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585790 S 6533 0 1 MAP7D1,TRAPPC3 IS37646 nsv10106 1 36373014 36389894 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13748 S 31 1 0 Samples from several populations that are part of the HapMap project. TRAPPC3 NA12155 dgv47e1 1 36392726 36659675 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv129,essv24512 M 271 0 0 FAM176B,LSM10,MAP7D1,OSCP1,SH3D21,STK40,THRAP3 NA12802 nsv871426 1 36402489 36417700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509037 S 6533 0 1 MAP7D1 SP54672 nsv834702 1 36428818 36629919 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444584 S 95 0 1 FAM176B,SH3D21,STK40,THRAP3 nsv159975 1 36442938 36447154 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178553 M 24 "" esv1470236 1 36448916 36448916 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103019 S 2 1 0 "" HuRef esv2544592 1 36505647 36507205 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335271 S 1 0 1 THRAP3 NA18507 esv2045078 1 36505769 36506259 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505438 S 1 0 1 THRAP3 NA18507 esv2125715 1 36521628 36522091 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852306 S 1 0 1 THRAP3 NA18507 esv1002750 1 36521805 36521856 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579615 S 3 0 1 THRAP3 HuRef esv1414937 1 36521856 36521908 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244589 S 2 0 1 THRAP3 HuRef nsv160040 1 36521857 36521908 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178618 M 24 THRAP3 nsv444 1 36523762 36568167 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2067 S 9 0 1 FAM176B,SH3D21,THRAP3 NA18555 nsv524394 1 36562133 36620353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700312 S 2026 0 1 FAM176B,STK40 nsv509202 1 36671474 36728356 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619791 S 4 1 0 CSF3R,MRPS15,OSCP1 NA10860 nsv461073 1 36697263 36733213 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537522 S 1557 0 1 CSF3R,MRPS15 1780862529_A nsv520839 1 36700320 36748840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697643 S 2026 0 1 CSF3R,MRPS15 esv1178181 1 36782350 36782418 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795450 S 2 0 1 "" HuRef nsv509213 1 36797080 36870829 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619792 S 4 1 0 "" NA10860 nsv871688 1 36846938 37192428 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522602 S 6533 0 1 GRIK3 SP53280 nsv870454 1 36878460 37008208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514386 S 6533 0 1 "" SP56004 nsv455 1 36900295 36933595 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9005 S 9 1 0 "" NA12156 esv1494805 1 36938559 36938652 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3894677 S 2 0 1 "" HuRef esv271040 1 36984224 36984580 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517066,essv2515676 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12815 esv271799 1 36988365 36988702 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558151,essv2565749,essv2541010,essv2571790,essv2546305,essv2525871,essv2542223,essv2536577,essv2544131,essv2571068,essv2568160,essv2545531,essv2523420,essv2531855,essv2577583,essv2548545,essv2521568,essv2550682,essv2554257,essv2544403,essv2552045,essv2520717,essv2547345,essv2529289,essv2558594,essv2577934,essv2553709,essv2559573,essv2564165,essv2554885,essv2561947,essv2537293,essv2546852,essv2544634,essv2562881,essv2523918,essv2541144,essv2538281,essv2540423,essv2561131,essv2539617,essv2519788,essv2522016,essv2531244,essv2567561,essv2541761,essv2570311,essv2535520,essv2572450,essv2559253,essv2539375,essv2578446,essv2573140,essv2529894,essv2527628,essv2557589,essv2522379,essv2574604,essv2545905,essv2548865,essv2532994,essv2547740,essv2563398 M 157 63 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07347,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11918,NA11919,NA11920,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12155,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12828,NA12872,NA12874,NA12878,NA12892,NA18526,NA18532,NA18537,NA18545,NA18547,NA18552,NA18562,NA18563,NA18566,NA18571,NA18573,NA18582,NA18592,NA18593,NA18608,NA18609,NA18638,NA18912,NA18940,NA18942,NA18949,NA18952,NA18953,NA18960,NA19138,NA19239 esv274463 1 36988365 36988702 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581807,essv2582809,essv2584512 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239 nsv871864 1 37026888 37145553 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558434 S 6533 1 0 GRIK3 MS23257 esv2477261 1 37031693 37032214 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280316 S 1 1 0 "" NA18507 nsv834713 1 37117119 37281540 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444595 S 95 1 0 GRIK3 nsv522473 1 37175999 37188856 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705838 S 2026 0 1 GRIK3 esv2553528 1 37194989 37198175 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325318 S 1 0 1 GRIK3 NA18507 esv2538711 1 37195105 37195892 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264336 S 1 1 0 GRIK3 NA18507 esv1102722 1 37195642 37195642 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046400 S 2 1 0 GRIK3 HuRef esv3151 1 37195932 37196389 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25592 S 1 0 1 Single Asian sample YH GRIK3 YH esv2459868 1 37196379 37199082 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370743 S 1 0 1 GRIK3 NA18507 esv2906 1 37196734 37198627 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25347 S 1 0 1 Single Asian sample YH GRIK3 YH esv23328 1 37196768 37198598 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10789 S 451 0 5 GRIK3 NA11931,NA12828,NA18511,NA18517,NA19240 nsv821045 1 37196768 37198598 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420303 S 1 1 0 GRIK3 NA10851 esv7566 1 37196837 37198368 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30007 S 1 0 1 GRIK3 SJK nsv870498 1 37204767 37321060 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522603 S 6533 0 1 GRIK3 SP53280 nsv466 1 37224605 37269238 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9013 S 9 0 1 GRIK3 NA12156 nsv834724 1 37281599 37442774 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444606 S 95 1 0 MIR4255 nsv509224 1 37306794 37427815 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619793 S 4 1 0 MIR4255 NA10860 nsv511689 1 37360718 37365223 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626328 S 1 0 1 "" 1 nsv871545 1 37390396 37516530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522604 S 6533 0 1 MIR4255 SP53280 nsv521436 1 37408091 37456506 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698046 S 2026 0 1 "" nsv477 1 37429025 37474144 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9019 S 9 0 1 "" NA12156 esv269206 1 37459718 37459803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514074 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 nsv488 1 37465939 37499591 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1081 S 9 1 0 "" NA19240 nsv834735 1 37519245 37681373 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444629,nssv1444617 M 95 0 2 "" nsv499 1 37578710 37589060 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4120 S 9 1 0 "" NA12878 dgv32n67 1 37588994 37590035 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822309,nsv822320 M 31 2 0 "" AK4,NA18570 esv4797 1 37589017 37589379 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27238 S 1 0 1 Single Asian sample YH "" YH esv5617 1 37589054 37589307 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28058 S 1 0 1 "" SJK nsv160102 1 37589061 37589299 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178680 M 24 "" nsv519697 1 37637498 37638930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696998 S 2026 0 1 "" esv2574190 1 37684179 37684696 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390348 S 1 1 0 "" NA18507 nsv519551 1 37729963 37747866 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684557,nssv656832 M 2026 2 0 MEAF6 nsv524834 1 37734200 37824172 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700835 S 2026 1 0 DNALI1,GNL2,MEAF6,SNIP1 nsv834746 1 37775539 37939913 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444640 S 95 0 1 C1orf109,CDCA8,DNALI1,GNL2,RSPO1,SNIP1 esv988200 1 37848507 37848963 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564472 S 3 1 0 "" HuRef esv3503 1 37849886 37850106 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25944 S 1 0 1 Single Asian sample YH RSPO1 YH esv992523 1 37849936 37850006 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585401 S 3 0 1 RSPO1 HuRef nsv160858 1 37849937 37850007 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179436 M 24 RSPO1 nsv527629 1 37894521 37899741 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704097 S 2026 0 1 "" nsv819737 1 37919829 37920400 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419008 S 2 0 1 C1orf109 AK1 nsv519553 1 37961428 37965124 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658587,nssv678161,nssv676228,nssv694242,nssv656833 M 2026 0 5 EPHA10 nsv525226 1 37961428 38000803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701315 S 2026 0 1 EPHA10 nsv871810 1 37980587 38051166 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509744,nssv1511313 M 6533 0 2 C1orf122,EPHA10,MANEAL,MTF1,YRDC SP54956,SP55021 esv2276987 1 37980649 37981175 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4970243 S 1 0 1 EPHA10 NA18507 esv1005346 1 37980833 37980995 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581260 S 3 0 1 EPHA10 HuRef esv994797 1 38011913 38013559 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565333 S 3 1 0 "" HuRef nsv870730 1 38044082 38207506 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592575 S 6533 1 0 C1orf122,INPP5B,MTF1,SF3A3,YRDC IS39243 nsv510 1 38052636 38118191 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5491,nssv1091 M 9 2 0 INPP5B,MTF1 NA19129,NA19240 nsv506927 1 38055332 38061332 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623268,nssv620652,nssv619232 M 4 3 0 MTF1 NA10860,NA15510,NA18994 esv1640356 1 38135235 38135284 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871016 S 2 0 1 INPP5B HuRef nsv822331 1 38201189 38202698 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430339 S 31 0 1 SF3A3 AK16 esv267758 1 38220266 38220351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515607 S 157 1 0 Samples from several populations that are part of the HapMap project. SF3A3 NA12815 nsv522 1 38265239 38299785 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2925 S 9 1 0 POU3F1 NA18555 nsv521856 1 38265491 38272230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694630 S 2026 0 1 "" esv259740 1 38356256 38356613 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395526,essv2397876,essv2398831 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18563,NA18577,NA18582 esv26787 1 38375147 38377167 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21222 S 451 0 1 "" NA12828 nsv441687 1 38414624 38417452 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv24918 1 38414777 38417685 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11024 S 451 0 1 "" NA18523 nsv519358 1 38443993 38445830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694325 S 2026 0 1 "" nsv834757 1 38449737 38643479 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444651 S 95 1 0 LOC339442 nsv533 1 38461115 38475672 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9028 S 9 0 1 "" NA12156 nsv544 1 38478334 38484938 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5499 S 9 1 0 "" NA19129 nsv834768 1 38534331 38725549 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444662 S 95 1 0 "" nsv517641 1 38622926 38625611 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688984,nssv693048,nssv694835,nssv684558,nssv652648,nssv685154 M 2026 6 0 "" nsv521479 1 38694640 38701079 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694450 S 2026 1 0 "" esv1309666 1 38723326 38723326 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833922 S 2 1 0 "" HuRef nsv555 1 38755445 38790436 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4141 S 9 1 0 "" NA12878 nsv511145 1 38854416 38860191 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625711 S 1 0 1 "" 1 nsv508008 1 38855197 38861197 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618492 S 4 0 1 "" CHM nsv511690 1 38856518 38858543 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626329 S 1 0 1 "" 1 dgv33n67 1 38856775 38858166 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822365,nsv822342 M 31 0 5 "" AK18,AK6,NA18526,NA18582,NA18947 nsv822353 1 38856775 38859071 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431803 S 31 0 1 "" AK20 nsv820218 1 38856803 38859937 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419512 S 2 0 1 "" AK1 esv27536 1 38856971 38858162 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15624 S 451 0 2 "" NA06985,NA18858 nsv871799 1 38857823 38931687 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558435 S 6533 1 0 "" MS23257 nsv10117 1 38900923 38910933 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18773 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 dgv34n67 1 38901080 38909934 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822376,nsv822387 M 31 0 2 "" NA18968,NA18972 dgv48e1 1 38901188 38910242 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2944,essv3576,esv1377,essv1696 M 271 0 0 "" NA18968,NA18972,NA18987 nsv441688 1 38901191 38908792 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514925 1 38901296 38908796 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628446 S 1414 0 0 "" nsv818145 1 38907229 38909659 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417575 S 112 0 1 "" NA18972 nsv461095 1 38907467 38944875 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537543 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00157 nsv526972 1 39021300 39023551 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703344 S 2026 1 0 "" esv23679 1 39067668 39068178 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13960 S 451 0 1 "" NA18861 nsv871872 1 39137204 39224444 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558436 S 6533 1 0 RHBDL2 MS23257 nsv435884 1 39150888 39157686 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465940 S 2 0 1 RHBDL2 NA15510 nsv518731 1 39168470 39169011 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696181 S 2026 0 1 RHBDL2 esv1002936 1 39183001 39184768 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564723 S 3 1 0 "" HuRef nsv512737 1 39184060 39184303 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625363 S 1 1 0 "" 1 esv1242325 1 39184116 39184116 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051569 S 2 1 0 "" HuRef esv23536 1 39205732 39213224 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20704 S 451 0 1 "" NA18502 esv1254825 1 39282829 39282829 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621833 S 2 1 0 "" HuRef esv22317 1 39306877 39309244 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17982 S 451 1 0 "" NA18858 nsv870829 1 39330798 39817300 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558437 S 6533 1 0 BMP8A,KIAA0754,MACF1,PABPC4,PPIEL,SNORA55 MS23257 nsv515793 1 39343798 39351119 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693049,nssv657487,nssv694005,nssv678265,nssv692912,nssv664813 M 2026 0 6 MACF1 esv32941 1 39376424 39377309 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99758 S 51 0 1 MACF1 22086 esv267452 1 39450224 39450309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519139,essv2518343 M 157 2 0 Samples from several populations that are part of the HapMap project. MACF1 NA19141,NA19240 esv273398 1 39450224 39450309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581207 S 7 1 0 Samples from several populations that are part of the HapMap project. MACF1 NA19240 esv268462 1 39500552 39500637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517157 S 157 1 0 Samples from several populations that are part of the HapMap project. MACF1 hapmap_pooled_sample_set nsv820058 1 39561057 39562375 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419235 S 2 0 1 MACF1 AK1 nsv506928 1 39584479 39590479 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620653 S 4 1 0 MACF1 NA15510 esv1294628 1 39715394 39715394 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974442 S 2 1 0 MACF1 HuRef nsv871499 1 39717884 39785469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530431 S 6533 0 1 BMP8A,MACF1,PPIEL MS10311 nsv7177 1 39718341 40039877 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10825,nssv6576,nssv5516 M 9 0 0 BMP8A,BMP8B,HEYL,HPCAL4,MACF1,NT5C1A,OXCT2,PABPC4,PPIE,PPIEL,SNORA55 NA12156,NA18956,NA19129 nsv870462 1 39720811 39736460 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509745,nssv1511314 M 6533 0 2 BMP8A,MACF1 SP54956,SP55021 esv2268423 1 39734322 39734678 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733529 S 1 0 1 BMP8A NA18507 nsv508160 1 39741317 39803133 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617344 S 4 0 1 BMP8A,PABPC4,PPIEL CHM esv1368683 1 39743043 39743043 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701537 S 2 1 0 BMP8A HuRef nsv829649 1 39743542 39877101 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444673,nssv1444684 M 95 0 2 BMP8A,HEYL,PABPC4,PPIEL,SNORA55 esv29294 1 39771283 39773791 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13358 S 451 0 1 PPIEL NA18517 nsv566 1 39829045 39862326 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9038 S 9 1 0 HEYL NA12156 nsv160826 1 39845318 39845673 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179404 M 24 "" nsv518544 1 39878682 39885197 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695987 S 2026 0 1 "" nsv577 1 39882608 39915099 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2085 S 9 1 0 NT5C1A NA18555 esv2530832 1 39902283 39903196 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307330 S 1 1 0 NT5C1A NA18507 dgv15n27 1 39957320 40079485 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461117,nsv461106 M 1557 2 0 BMP8B,OXCT2,PPIE,TRIT1 1780854592_A,1780862460_A dgv215n71 1 39989580 40060638 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870595,nsv871852 M 6533 0 2 BMP8B,OXCT2,PPIE IS39233,MS10311 dgv49e1 1 39997730 40433019 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv416,essv10251 M 271 0 0 BMP8B,CAP1,MFSD2A,MYCL1,OXCT2,PPIE,PPT1,RLF,TRIT1 NA19152 nsv871927 1 40019571 40040955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509746 S 6533 0 1 BMP8B SP54956 esv6866 1 40042088 40042148 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29307 S 1 1 0 "" SJK nsv159700 1 40161162 40168129 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178278 M 24 "" nsv523913 1 40249388 40271889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699756 S 2026 0 1 "" esv2750836 1 40276366 40331835 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981953,essv6988472 M 771 1 0 CAP1,PPT1 BEC_508 nsv517028 1 40288983 40307654 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671364,nssv651735,nssv663352,nssv653640 M 2026 4 0 CAP1 esv267524 1 40297251 40297336 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516585,essv2518166,essv2517296,essv2519116 M 157 4 0 Samples from several populations that are part of the HapMap project. CAP1 NA12814,NA12872,NA18970,NA19141 nsv588 1 40304630 40310137 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10831 S 9 1 0 CAP1 NA18956 nsv829660 1 40311291 40504667 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444762,nssv1444695,nssv1444985,nssv1444974,nssv1444963,nssv1444706,nssv1444852,nssv1445074,nssv1444951,nssv1444773,nssv1444839,nssv1445085,nssv1444996,nssv1444728,nssv1444784,nssv1445007,nssv1445018,nssv1445096,nssv1444795,nssv1444863,nssv1444828,nssv1444885,nssv1444918,nssv1444740,nssv1445107,nssv1445062,nssv1445029,nssv1444907,nssv1445040,nssv1445118,nssv1444874,nssv1444806,nssv1444751,nssv1445051,nssv1444717,nssv1444896,nssv1444940,nssv1444817,nssv1445129,nssv1444929 M 95 3 37 PPT1,RLF,TMCO2,ZMPSTE24 nsv10128 1 40320597 40326326 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14094 S 31 0 1 Samples from several populations that are part of the HapMap project. PPT1 NA18975 dgv35n67 1 40324844 40326145 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822409,nsv822398 M 31 0 2 PPT1 AK20,NA18949 esv6823 1 40324923 40326252 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29264 S 1 0 1 PPT1 SJK nsv871470 1 40338095 40396860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506573 S 6533 0 1 "" SP54381 nsv521874 1 40408974 40460766 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694106 S 2026 0 1 RLF nsv870632 1 40658419 40858513 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558438 S 6533 1 0 DEM1,SMAP2,ZNF642,ZNF643,ZNF684 MS23257 esv2597296 1 40733925 40735550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267691 S 1 0 1 ZNF642 NA18507 esv2369794 1 40734768 40735542 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601534 S 1 0 1 "" NA18507 esv2421929 1 40738766 40742251 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5095069,essv5031015,essv5043565,essv5003237,essv5076708,essv5039917,essv5040849,essv5005042,essv5072071,essv5050516,essv5149168,essv5028496,essv5096270,essv5130096,essv5056700,essv5102518,essv5110742,essv5112394,essv5154716,essv5030533,essv5118372,essv5062156,essv5138442,essv5046483,essv5090401,essv5115483,essv5047717,essv5035402,essv5018422,essv5150596,essv5152520,essv5016105,essv5015953,essv5054910,essv5032064,essv5060670,essv5084132,essv5004950,essv5071766,essv5016558,essv5134179,essv5107694,essv5005003,essv5016174,essv5021004,essv5015979,essv5145500,essv5074050,essv5058625,essv5073486,essv5088596,essv5086730,essv5123078,essv5004810,essv5075627,essv5048361,essv5047287,essv5130881,essv5155345,essv5008181,essv5024336,essv5067036,essv5064594,essv5008358,essv5101369,essv5010372,essv5071966 M 1184 0 67 "" NA17976,NA17989,NA17990,NA17995,NA18112,NA18124,NA18125,NA18132,NA18141,NA18144,NA18146,NA18150,NA18152,NA18153,NA18497,NA18498,NA18537,NA18546,NA18552,NA18566,NA18593,NA18599,NA18602,NA18620,NA18641,NA18643,NA18682,NA18749,NA18945,NA18951,NA18953,NA18956,NA18973,NA18976,NA18991,NA19009,NA19028,NA19036,NA19044,NA19064,NA19075,NA19087,NA19088,NA19184,NA19190,NA19316,NA19334,NA19429,NA19467,NA19712,NA19982,NA20295,NA21300,NA21311,NA21314,NA21320,NA21359,NA21381,NA21421,NA21423,NA21425,NA21454,NA21479,NA21485,NA21608,NA21613,NA21617 nsv441689 1 40738766 40742251 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv25741 1 40739619 40742447 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13150 S 451 0 1 "" NA19190 nsv819581 1 40740139 40743009 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419486 S 2 0 1 "" AK1 nsv822420 1 40740783 40742603 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437935,nssv1428822,nssv1435651,nssv1426386,nssv1439454,nssv1438584,nssv1422367 M 31 0 7 "" AK12,AK6,NA18537,NA18552,NA18566,NA18951,NA18973 nsv513986 1 40740984 40742464 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628069 S 1414 0 1 "" nsv871000 1 40748845 40780846 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519421 S 6533 0 1 DEM1,ZNF684 SP81024 esv28574 1 40793794 40801068 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10486,esv19467 M 451 0 7 "" NA11894,NA12239,NA12414,NA18502,NA18508,NA18858,NA18916 nsv160971 1 40794272 40801210 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179549 M 24 "" nsv822431 1 40794289 40798568 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431068,nssv1429558 M 31 0 2 "" AK14,AK18 nsv516619 1 40794563 40799336 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672519,nssv666888,nssv671657,nssv680334,nssv667789,nssv653231,nssv690948,nssv690433,nssv662673,nssv672295,nssv673153,nssv691007,nssv689534,nssv654770,nssv664864,nssv684450,nssv689850,nssv666582,nssv663616 M 2026 0 19 "" esv2422112 1 40794563 40800797 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5133217,essv5052522,essv5100900,essv5015947,essv5052971,essv5008069,essv5078272,essv5104421,essv5019620,essv5093829,essv5003557,essv5057086,essv5122132,essv5151269,essv5126113,essv5024231,essv5116017,essv5092961,essv5054587,essv5157454,essv5073338,essv5129017,essv5024924,essv5099601,essv5137735,essv5012822,essv5070027,essv5144190,essv5136892,essv5078884,essv5008872,essv5013734,essv5006452,essv5156571,essv5053793,essv5088566,essv5153128,essv5146960,essv5110834,essv5042242,essv5069345,essv5012360,essv5096588,essv5152021,essv5133407,essv5126297,essv5009795,essv5067020,essv5085310,essv5140216,essv5093420,essv5044603,essv5016126,essv5082042,essv5090744,essv5071010,essv5071215,essv5144533,essv5160165,essv5065815,essv5034771,essv5124055,essv5045578,essv5013688,essv5135793,essv5154458,essv5011762,essv5074853,essv5085094,essv5057629,essv5014732,essv5052721,essv5055084,essv5062938,essv5148005,essv5104203,essv5018970,essv5134182,essv5118069,essv5122140,essv5144927,essv5090030 M 1184 0 82 "" NA10863,NA11894,NA12234,NA12239,NA12248,NA12264,NA12336,NA12341,NA12343,NA12716,NA12812,NA12815,NA17972,NA17983,NA18149,NA18498,NA18500,NA18503,NA18504,NA18506,NA18508,NA18518,NA18519,NA18544,NA18562,NA18594,NA18610,NA18636,NA18670,NA18853,NA18854,NA18858,NA18860,NA18916,NA18965,NA18976,NA18990,NA19078,NA19149,NA19315,NA19372,NA19445,NA19451,NA19656,NA19676,NA19761,NA19762,NA19763,NA19771,NA19772,NA19774,NA19788,NA19904,NA19915,NA19985,NA20127,NA20128,NA20334,NA20335,NA20336,NA20337,NA20510,NA20515,NA20521,NA20535,NA20756,NA20816,NA20849,NA20874,NA20877,NA20882,NA20884,NA20885,NA21101,NA21105,NA21123,NA21297,NA21301,NA21352,NA21473,NA21631,NA21685 esv2409848 1 40796688 40797064 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750530 S 1 0 1 "" NA18507 nsv599 1 40853155 40886520 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9047 S 9 0 1 RIMS3 NA12156 esv8923 1 40993249 40993323 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31364 S 1 1 0 NFYC SJK nsv610 1 40996458 41028137 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9053 S 9 1 0 KCNQ4,NFYC NA12156 nsv870531 1 41013106 41073606 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509747 S 6533 0 1 KCNQ4 SP54956 dgv16n27 1 41116195 41156425 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461150,nsv461206,nsv461272,nsv461228,nsv461195,nsv461161,nsv461261,nsv461295,nsv461173,nsv461217,nsv461284,nsv461239,nsv461250,nsv461184,nsv461328,nsv461139,nsv461306 M 1557 17 0 "" 1780854436_A,1780862125_A,1780862346_A,1780862443_A,1780862551_A,1798860192_A,1798860336_A,HGDP00082,HGDP00319,HGDP00513,HGDP00614,HGDP00624,HGDP00628,HGDP01153,NINDS_18,NINDS_238,NINDS_98 dgv216n71 1 41116195 41156425 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870897,nsv871586 M 6533 2 0 "" IS34896,IS40226 esv29727 1 41119009 41153575 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18639 S 451 1 0 "" NA12004 nsv441690 1 41119794 41149087 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv470710 1 41119815 41147029 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547726,nssv547727,nssv547728 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00614,HGDP00615,HGDP00628 nsv516272 1 41119815 41147030 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667238,nssv654797,nssv689447,nssv679939 M 2026 4 0 "" nsv818156 1 41119815 41147030 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417960,nssv1417961 M 112 2 0 "" NA07348,NA07357 nsv461339 1 41127268 41146737 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537738 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00615 nsv522723 1 41164805 41168285 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698354 S 2026 0 1 "" nsv159614 1 41171348 41172556 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178192 M 24 "" nsv621 1 41236609 41250124 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9060 S 9 0 1 CTPS NA12156 esv269066 1 41275273 41281303 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2562558,essv2560792,essv2572912 M 157 3 0 Samples from several populations that are part of the HapMap project. LOC100507178,SCMH1 NA18507,NA19116,NA19143 esv24588 1 41344450 41345732 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9763 S 451 0 2 MIR5095,SCMH1 NA18517,NA19225 nsv519146 1 41354593 41365585 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696623 S 2026 1 0 MIR5095,SCMH1 esv2571087 1 41432700 41434023 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206154 S 1 0 1 MIR5095,SCMH1 NA18507 esv22527 1 41534563 41538300 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13787 S 451 0 1 "" NA19240 esv2643183 1 41576653 41578248 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299791 S 1 0 1 "" NA18507 nsv508171 1 41577470 41747267 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622762 S 4 0 1 EDN2 NA18994 nsv871964 1 41583187 41633970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546460 S 6533 0 1 "" MS17208 nsv524868 1 41633970 41634712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700873 S 2026 0 1 "" nsv871918 1 41644665 41774418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546461 S 6533 0 1 EDN2,HIVEP3 MS17208 esv2627113 1 41663054 41663789 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205147 S 1 1 0 "" NA18507 nsv870508 1 41689615 41725184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530433 S 6533 0 1 EDN2 MS10311 nsv870806 1 41689615 41774418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543361 S 6533 0 1 EDN2,HIVEP3 MS16153 nsv870871 1 41708037 41764014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585791 S 6533 0 1 EDN2,HIVEP3 IS37646 nsv633 1 41718085 41763205 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9065 S 9 0 1 EDN2,HIVEP3 NA12156 nsv525172 1 41720331 41725495 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701248 S 2026 0 1 EDN2 nsv461350 1 41720331 41743799 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537744 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EDN2 HGDP00433 nsv871298 1 41725495 41774418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592104 S 6533 0 1 HIVEP3 IS39233 esv2027172 1 41727898 41728364 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601976 S 1 0 1 "" NA18507 esv21529 1 41764057 41770571 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11297 S 451 1 0 HIVEP3 NA06985 esv2229339 1 41766569 41766983 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855638 S 1 0 1 HIVEP3 NA18507 nsv644 1 41779742 41813245 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9073 S 9 1 0 HIVEP3 NA12156 esv1639858 1 41783211 41783211 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702696 S 2 1 0 HIVEP3 HuRef nsv518313 1 41844025 41847854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695744 S 2026 0 1 HIVEP3 nsv655 1 41866559 41899052 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2095 S 9 1 0 HIVEP3 NA18555 esv2174819 1 41873634 41874086 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4943981 S 1 0 1 HIVEP3 NA18507 esv1535775 1 41873876 41873932 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994813 S 2 0 1 HIVEP3 HuRef nsv461361 1 41937718 41971163 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537752 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HIVEP3 HGDP00553 nsv517842 1 42034476 42043750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695246 S 2026 0 1 HIVEP3 nsv666 1 42063237 42074543 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9081 S 9 0 1 HIVEP3 NA12156 nsv871130 1 42103172 42402951 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558439 S 6533 1 0 GUCA2A,GUCA2B,HIVEP3 MS23257 esv27848 1 42138620 42139210 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19802 S 451 1 0 HIVEP3 NA11993 nsv677 1 42149652 42183227 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5517 S 9 1 0 HIVEP3 NA19129 esv268727 1 42162865 42163207 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556463,essv2521526,essv2576728,essv2520162,essv2555101,essv2573344,essv2571968,essv2526852 M 157 8 0 Samples from several populations that are part of the HapMap project. HIVEP3 NA11994,NA12144,NA12154,NA12815,NA12872,NA18964,NA18973,NA19005 esv268819 1 42186972 42187057 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519079 S 157 1 0 Samples from several populations that are part of the HapMap project. HIVEP3 NA19141 nsv829671 1 42193632 42353185 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445140 S 95 0 1 HIVEP3 nsv871861 1 42283966 42344026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588757,nssv1598890,nssv1564762 M 6533 0 3 "" IS30295,IS38241,IS41042 nsv519479 1 42289357 42362690 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671865,nssv656348 M 2026 2 0 "" nsv527531 1 42389619 42408092 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703990 S 2026 0 1 GUCA2A,GUCA2B nsv688 1 42406455 42441058 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2935 S 9 1 0 FOXJ3 NA18555 esv24371 1 42421525 42425424 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12093 S 451 0 1 FOXJ3 NA18502 nsv871007 1 42430994 42560119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506574 S 6533 0 1 FOXJ3 SP54381 esv22111 1 42459429 42461747 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13732 S 451 0 1 FOXJ3 NA12828 esv2539470 1 42515199 42516854 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294377 S 1 0 1 FOXJ3 NA18507 esv270402 1 42541146 42541510 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509027,essv2513389,essv2506834,essv2498854 M 157 4 0 Samples from several populations that are part of the HapMap project. FOXJ3 NA18522,NA18907,NA19102,NA19138 nsv870704 1 42570791 42780605 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588588 S 6533 1 0 CCDC30,FOXJ3,PPCS,RIMKLA,ZMYND12 IS38219 nsv822442 1 42610588 42611703 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432074 S 31 0 1 "" NA18972 esv28389 1 42627770 42630321 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16457 S 451 0 2 RIMKLA NA07045,NA18907 esv2480910 1 42773311 42774490 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298591 S 1 1 0 CCDC30 NA18507 esv1025473 1 42773977 42773977 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104528 S 2 1 0 CCDC30 HuRef nsv829682 1 42827687 43011826 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445151 S 95 0 1 C1orf50,CCDC30,CLDN19,LEPRE1,PPIH,YBX1 nsv822453 1 42875097 42875537 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423441 S 31 0 1 CCDC30 NA18968 esv2520511 1 42886217 42887782 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390935 S 1 0 1 CCDC30 NA18507 esv272728 1 43055845 43055992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584284,essv2583723 M 7 2 0 Samples from several populations that are part of the HapMap project. ERMAP NA19238,NA19240 nsv871947 1 43063648 43080219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499637 S 6533 0 1 ERMAP SP50066 nsv870981 1 43075102 43080219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502629 S 6533 0 1 ERMAP SP51307 nsv870684 1 43075558 43078340 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516585 S 6533 0 1 ERMAP SP56874 nsv461372 1 43128798 43133087 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537763 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01029 esv7082 1 43142867 43143097 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29523 S 1 0 0 "" SJK nsv699 1 43145051 43179097 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4150 S 9 1 0 SLC2A1 NA12878 esv2624629 1 43156835 43158509 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304199 S 1 0 1 "" NA18507 esv2054916 1 43157111 43157797 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647796 S 1 0 1 "" NA18507 nsv710 1 43307707 43352508 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9088 S 9 0 1 "" NA12156 nsv522391 1 43319407 43348908 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695171 S 2026 1 0 "" nsv518211 1 43331524 43368971 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695634 S 2026 0 1 "" nsv519062 1 43361485 43379318 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696534 S 2026 0 1 "" nsv829693 1 43367715 43551235 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445162 S 95 0 1 C1orf210,EBNA1BP2,FAM183A,TIE1,TMEM125,WDR65 nsv461383 1 43436706 43468295 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537771 S 1557 0 1 WDR65 1780854205_A esv2565866 1 43466103 43468993 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306304 S 1 0 1 WDR65 NA18507 esv27491 1 43466330 43468121 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11904 S 451 0 7 WDR65 NA11894,NA11993,NA18511,NA18861,NA18909,NA19190,NA19225 esv2148585 1 43466457 43468322 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810378 S 1 0 1 WDR65 NA18507 nsv822464 1 43466498 43468023 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421449,nssv1423957,nssv1432086,nssv1437574,nssv1439455,nssv1422368 M 31 0 6 WDR65 NA18537,NA18547,NA18552,NA18582,NA18972,NA18997 nsv822476 1 43467483 43468023 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424733,nssv1429559,nssv1425493,nssv1423113 M 31 0 4 WDR65 AK14,AK2,AK4,NA18999 nsv523115 1 43472557 43478548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698814 S 2026 0 1 WDR65 nsv508009 1 43503846 43509846 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624209 S 4 0 1 TMEM125 NA18994 nsv508010 1 43611755 43617755 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624210,nssv618493,nssv621466 M 4 0 3 "" CHM,NA15510,NA18994 esv1418115 1 43613210 43613816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247016 S 2 0 1 "" HuRef esv270510 1 43614893 43615254 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513483,essv2511984,essv2498262 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18907,NA19238,NA19240 esv272628 1 43614965 43615290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584031,essv2583299 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv2560782 1 43629682 43631172 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319973 S 1 0 1 SZT2 NA18507 esv2400702 1 43629867 43630578 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603718 S 1 0 1 SZT2 NA18507 esv3099 1 43629979 43630451 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25540 S 1 0 1 Single Asian sample YH SZT2 YH nsv159253 1 43630058 43630393 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177831 M 24 SZT2 esv5810 1 43630059 43630380 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28251 S 1 0 1 SZT2 SJK nsv527798 1 43685177 43689996 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704290 S 2026 0 1 HYI,SZT2 nsv438377 1 43689996 43706276 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470629,nssv470518 M 269 0 2 Samples from several populations that are part of the HapMap project. HYI,SZT2 NA18853,NA18854 nsv871794 1 43755114 43895778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553928 S 6533 0 1 KDM4A,PTPRF MS20440 nsv519570 1 43777867 43844653 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705110,nssv656910,nssv675620,nssv703017,nssv673331,nssv657034,nssv682477,nssv686669,nssv660985,nssv674625,nssv662069 M 2026 0 11 PTPRF esv2600447 1 43831811 43832591 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210869 S 1 0 0 PTPRF NA18507 esv7506 1 43831894 43832237 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29947 S 1 0 0 PTPRF SJK nsv513636 1 43831937 43834411 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626888 S 1 0 0 PTPRF 1 nsv822487 1 43861011 43861471 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431805 S 31 0 1 PTPRF AK20 nsv159510 1 43864440 43866796 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178088 M 24 "" esv21836 1 43868154 43879863 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11621 S 451 1 0 "" NA18505 nsv441691 1 43868287 43878235 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv436807 1 43870339 43877271 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465951 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv271803 1 43981467 43981807 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517529,essv2515700,essv2517882,essv2513710 M 157 4 0 Samples from several populations that are part of the HapMap project. ST3GAL3 NA07347,NA11918,NA12815,NA12878 esv272953 1 43981467 43981807 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581382 S 7 1 0 Samples from several populations that are part of the HapMap project. ST3GAL3 NA12878 nsv721 1 44077053 44110963 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1100 S 9 1 0 ST3GAL3 NA19240 esv29502 1 44109897 44110617 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18772 S 451 1 0 ST3GAL3 NA06985 esv268603 1 44126055 44126408 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511897,essv2509663,essv2507445,essv2506832,essv2509532 M 157 5 0 Samples from several populations that are part of the HapMap project. ST3GAL3 NA18499,NA18508,NA18912,NA19102,NA19129 esv1002363 1 44142591 44144938 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586329 S 3 1 0 ST3GAL3 HuRef esv1721659 1 44143401 44143625 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901337 S 2 0 1 ST3GAL3 HuRef esv1735166 1 44143642 44143934 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4254684 S 2 0 1 ST3GAL3 HuRef nsv870942 1 44152544 44190217 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509748 S 6533 0 1 ARTN,IPO13,ST3GAL3 SP54956 nsv870606 1 44201489 44274750 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543362,nssv1592105,nssv1549609 M 6533 0 3 ATP6V0B,B4GALT2,CCDC24,DPH2,IPO13,SLC6A9 IS39233,MS16153,MS18276 dgv217n71 1 44208887 44223774 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871307,nsv870721 M 6533 0 3 ATP6V0B,B4GALT2,DPH2 SP54725,SP54956,SP55021 nsv732 1 44214949 44231058 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10840 S 9 1 0 ATP6V0B,B4GALT2,CCDC24 NA18956 nsv822498 1 44215549 44216234 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436335 S 31 1 0 ATP6V0B NA18542 nsv519538 1 44240822 44241618 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661267,nssv656769,nssv681965 M 2026 0 3 SLC6A9 nsv829704 1 44259986 44425691 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445429,nssv1445362,nssv1445296,nssv1445407,nssv1445351,nssv1445207,nssv1445240,nssv1445273,nssv1445395,nssv1445196,nssv1445384,nssv1445329,nssv1445284,nssv1445218,nssv1445251,nssv1445318,nssv1445173,nssv1445418,nssv1445262,nssv1445307,nssv1445340,nssv1445373,nssv1445440,nssv1445185,nssv1445229 M 95 0 25 KLF17,SLC6A9 esv2380455 1 44377166 44378056 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4752515 S 1 0 1 "" NA18507 esv1004979 1 44378541 44378624 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574385 S 3 0 1 "" HuRef esv1447929 1 44378586 44378670 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352804 S 2 0 1 "" HuRef nsv158965 1 44439324 44439324 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177543 M 24 "" esv998002 1 44468291 44474125 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565736 S 3 0 1 ERI3 HuRef nsv508011 1 44472662 44478662 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618494 S 4 0 1 ERI3 CHM esv269527 1 44477348 44477433 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514507 S 157 1 0 Samples from several populations that are part of the HapMap project. ERI3 NA11840 nsv829715 1 44544896 44720377 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445484,nssv1445506,nssv1445518,nssv1445529,nssv1445584,nssv1445562,nssv1445551,nssv1445462,nssv1445573,nssv1445595,nssv1445451,nssv1445606,nssv1445617,nssv1445629,nssv1445640,nssv1445651,nssv1445495,nssv1445662,nssv1445540,nssv1445473 M 95 20 0 ERI3,RNF220 esv24567 1 44548961 44549591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10275 S 451 0 1 ERI3 NA18858 nsv514926 1 44593744 44595352 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628448 S 1414 0 0 "" esv272555 1 44629918 44630003 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581147 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv461395 1 44671585 44892552 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537782 S 1557 1 0 RNF220,TMEM53 1780854105_A esv272636 1 44706354 44706756 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580894,essv2579576 M 7 2 0 Samples from several populations that are part of the HapMap project. RNF220 NA19238,NA19240 esv267525 1 44706372 44706711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516772,essv2517486,essv2517091,essv2514729,essv2518557,essv2516835,essv2518880,essv2519435,essv2513621 M 157 9 0 Samples from several populations that are part of the HapMap project. RNF220 NA07346,NA07347,NA11881,NA11918,NA11931,NA12234,NA12287,NA12892,NA19239 esv1005212 1 44745160 44758261 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565520 S 3 0 1 RNF220 HuRef nsv744 1 44752367 44785836 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4160 S 9 1 0 RNF220 NA12878 esv24516 1 44794057 44794784 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10403 S 451 0 1 RNF220 NA19129 esv1001605 1 44855698 44860750 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565131 S 3 1 0 RNF220 HuRef nsv461406 1 44991129 45066105 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537793 S 1557 0 1 BEST4,BTBD19,KIF2C,PLK3,PTCH2,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4 1780854339_A nsv870815 1 45006225 45091339 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585792,nssv1573736,nssv1592106 M 6533 0 3 BEST4,BTBD19,EIF2B3,PLK3,PTCH2,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4 IS33504,IS37646,IS39233 nsv871320 1 45031882 45047428 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509750 S 6533 0 1 BTBD19,PLK3,TCTEX1D4 SP54956 nsv870773 1 45031882 45059893 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510648 S 6533 0 1 BTBD19,PLK3,PTCH2,TCTEX1D4 SP54988 nsv870876 1 45037132 45046118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511316 S 6533 0 1 PLK3,TCTEX1D4 SP55021 esv1064548 1 45054854 45054941 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716592 S 2 0 1 "" HuRef esv2474011 1 45189959 45191530 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288245 S 1 0 1 EIF2B3 NA18507 esv2630872 1 45190215 45190526 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303392 S 1 0 1 EIF2B3 NA18507 nsv524385 1 45261178 45264091 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700302 S 2026 0 1 ZSWIM5 esv24105 1 45407164 45418038 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9846 S 451 0 1 ZSWIM5 NA12776 esv2595167 1 45480959 45482447 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289473 S 1 0 1 "" NA18507 esv2009066 1 45481052 45482089 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736500 S 1 0 1 "" NA18507 esv1314250 1 45568295 45568295 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355410 S 2 1 0 MUTYH HuRef esv2750837 1 45568702 45680850 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984095,essv6984094 M 771 0 1 MUTYH,TESK2,TOE1 BEC_774 nsv829726 1 45670168 45875773 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445673 S 95 0 1 AKR1A1,CCDC163P,CCDC17,GPBP1L1,MMACHC,NASP,PRDX1,TESK2 esv1477203 1 45735933 45735933 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212552 S 2 1 0 CCDC163P HuRef esv1741401 1 45736041 45736041 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030031 S 2 1 0 CCDC163P HuRef esv1003037 1 45756074 45756169 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570158 S 3 0 1 PRDX1 HuRef nsv871928 1 45797288 46382323 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558440 S 6533 1 0 AKR1A1,CCDC17,GPBP1L1,IPP,MAST2,NASP,PIK3R3,RPS15AP10,TMEM69 MS23257 esv273688 1 45841614 45841699 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581600 S 7 1 0 Samples from several populations that are part of the HapMap project. NASP NA12878 nsv822509 1 45857566 45862229 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431806 S 31 0 1 CCDC17 AK20 nsv870511 1 45920725 46018010 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516209 S 6533 1 0 GPBP1L1,IPP,TMEM69 SP56549 nsv871233 1 45925790 46083862 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590571 S 6533 1 0 IPP,MAST2,TMEM69 IS38535 esv1007960 1 45940855 45941385 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565778 S 3 1 0 IPP HuRef nsv436781 1 45941452 45941819 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465962 S 2 1 0 Samples from several populations that are part of the HapMap project. IPP NA18505 esv1730955 1 45948103 45948501 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787047 S 2 0 1 IPP HuRef dgv218n71 1 45955503 46171002 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870791,nsv871312 M 6533 2 0 IPP,MAST2 SP54901,SP56574 dgv219n71 1 45956887 46086757 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871023,nsv870626 M 6533 0 2 IPP,MAST2 IS41634,SP57469 nsv871763 1 45959163 46008685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509751,nssv1511317 M 6533 0 2 IPP SP54956,SP55021 esv2023284 1 45979693 45980375 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956642 S 1 0 1 IPP NA18507 esv4646 1 45979810 45980266 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27087 S 1 0 1 Single Asian sample YH IPP YH nsv159558 1 45979883 45980194 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178136 M 24 IPP nsv870911 1 45989162 46270962 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560207 S 6533 1 0 MAST2 MS24372 nsv461417 1 45995673 46188935 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537804 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAST2 HGDP01189 esv2170120 1 46007019 46007443 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851842 S 1 0 1 "" NA18507 nsv524147 1 46008685 46210663 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700026 S 2026 1 0 MAST2 nsv436292 1 46015346 46024503 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465973 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv25258 1 46016872 46023933 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17370 S 451 0 1 "" NA18505 nsv437479 1 46045466 46183733 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467360 S 60 0 1 Samples from several populations that are part of the HapMap project. MAST2 NA07029 esv271472 1 46105719 46106122 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500151,essv2511592 M 157 2 0 Samples from several populations that are part of the HapMap project. MAST2 NA18573,NA18940 nsv10139 1 46125048 46150358 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19103 S 31 1 0 Samples from several populations that are part of the HapMap project. MAST2 NA18972 nsv829737 1 46125487 46279011 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445884,nssv1445717,nssv1445728,nssv1445740,nssv1445817,nssv1445917,nssv1445751,nssv1445862,nssv1445828,nssv1445762,nssv1445895,nssv1445773,nssv1445851,nssv1445839,nssv1445784,nssv1445906,nssv1445706,nssv1445928,nssv1445795,nssv1445873,nssv1445684,nssv1445806,nssv1445695 M 95 23 0 MAST2,PIK3R3 esv2583928 1 46137998 46139522 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204188 S 1 0 1 MAST2 NA18507 esv1000231 1 46138520 46139108 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565041 S 3 0 1 MAST2 HuRef esv5205 1 46138661 46139087 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27646 S 1 0 1 Single Asian sample YH MAST2 YH esv9144 1 46138669 46139025 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31585 S 1 0 1 MAST2 SJK esv1778390 1 46138712 46139041 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681392 S 2 0 1 MAST2 HuRef nsv522438 1 46235468 46273580 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705796 S 2026 0 1 MAST2 nsv515934 1 46266047 46275423 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661378,nssv700228,nssv702190,nssv689962,nssv665376,nssv676725 M 2026 0 6 MAST2 nsv508012 1 46312696 46318696 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621467 S 4 0 1 PIK3R3 NA15510 nsv527878 1 46421633 46432882 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704379 S 2026 1 0 POMGNT1,TSPAN1 nsv822520 1 46423073 46434288 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431807 S 31 0 1 POMGNT1,TSPAN1 AK20 nsv470711 1 46432882 46583117 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547729 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf190,LRRC41,NSUN4,POMGNT1,RAD54L,UQCRH HGDP01223 esv270399 1 46451595 46451944 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516806,essv2517509,essv2516302,essv2515734,essv2515971,essv2517289,essv2519138,essv2519441 M 157 8 0 Samples from several populations that are part of the HapMap project. C1orf190,POMGNT1 NA07346,NA11881,NA11918,NA12814,NA12815,NA12873,NA18970,NA19141 esv1137837 1 46451634 46451634 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125798 S 2 1 0 C1orf190,POMGNT1 HuRef nsv829748 1 46497095 46648709 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445939 S 95 0 1 FAAH,LRRC41,NSUN4,RAD54L,UQCRH esv3832 1 46575847 46576271 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26273 S 1 0 1 Single Asian sample YH "" YH esv22272 1 46578239 46582884 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12311 S 451 0 1 NSUN4 NA12776 nsv159955 1 46586130 46592914 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178533 M 24 NSUN4 nsv755 1 46781904 46813617 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10857 S 9 1 0 KNCN,LOC100507423,MKNK1 NA18956 nsv522319 1 46853328 46866854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695099 S 2026 0 1 MOBKL2C nsv819064 1 46871946 46872189 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419437 S 2 0 1 "" AK1 esv1238931 1 47014731 47014731 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3950932 S 2 1 0 "" HuRef nsv870792 1 47031725 47044772 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519760 S 6533 1 0 CYP4B1 SP50544 nsv870538 1 47031725 47081852 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583640,nssv1588389 M 6533 2 0 CYP4B1 IS36559,IS38186 nsv525401 1 47090987 47102234 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701524 S 2026 0 1 CYP4Z2P dgv220n71 1 47122961 47289710 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871288,nsv871958,nsv871377,nsv870695 M 6533 10 0 CYP4A11,CYP4X1,CYP4Z2P MS12188,MS12539,MS14157,MS14502,MS14923,MS17849,MS18377,MS24245,MS24812,MS25190 nsv870674 1 47189028 47289710 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534865 S 6533 1 0 CYP4X1 MS11750 nsv871717 1 47222073 47296851 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532735 S 6533 1 0 CYP4X1 MS10820 nsv461428 1 47260172 47296851 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537815 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP4X1 HGDP00674 nsv871080 1 47262373 47289710 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549404,nssv1560162 M 6533 2 0 CYP4X1 MS18212,MS24350 dgv221n71 1 47306292 47410586 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870899,nsv871010,nsv870705 M 6533 12 0 CYP4A22,CYP4Z1 MS10820,MS12188,MS12539,MS14157,MS14923,MS17849,MS18212,MS18377,MS24245,MS24350,MS24812,MS25190 esv24824 1 47338177 47346769 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13964 S 451 0 1 CYP4Z1 NA18502 esv1709924 1 47422845 47422845 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834849 S 2 1 0 PDZK1IP1 HuRef nsv441692 1 47486248 47501675 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 STIL nsv822531 1 47486479 47502670 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437585 S 31 1 0 STIL NA18547 esv273293 1 47510418 47510503 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581538 S 7 1 0 Samples from several populations that are part of the HapMap project. STIL NA12878 esv33183 1 47548818 47549941 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95098 S 51 1 0 STIL 21721 nsv871961 1 47648214 47685215 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509752 S 6533 0 1 FOXD2,FOXE3,MGC12982 SP54956 nsv871299 1 47662004 47830477 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558441 S 6533 1 0 FOXD2,MGC12982 MS23257 esv26721 1 47749534 47750195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11930 S 451 0 1 "" NA18523 esv270079 1 47820249 47820334 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516589 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv8288 1 47829838 47830057 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30729 S 1 0 1 "" SJK esv993664 1 47830866 47830866 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585021 S 3 1 0 "" HuRef nsv160603 1 47830868 47830868 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179181 M 24 "" nsv515678 1 47835937 47837606 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664347,nssv672560,nssv682478 M 2026 0 3 "" nsv829760 1 47883713 48080775 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445950 S 95 0 1 LOC388630 nsv871257 1 47884286 48107077 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549534 S 6533 1 0 LOC388630 MS18261 nsv871175 1 47922896 48027369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572867 S 6533 1 0 LOC388630 IS33188 esv259508 1 47924884 47925186 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394084 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv161055 1 47946687 47946770 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179633 M 24 "" esv1008760 1 47946726 47946809 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566936 S 3 0 1 "" HuRef esv1734715 1 47946807 47946891 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816597 S 2 0 1 "" HuRef nsv515794 1 47947454 47950514 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694006,nssv662898,nssv690119,nssv680790,nssv664814,nssv673299,nssv662482,nssv660050,nssv661894,nssv691966,nssv691214 M 2026 0 11 "" esv2519585 1 47981097 47982028 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320124 S 1 1 0 "" NA18507 nsv518055 1 47989216 47989473 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695466 S 2026 0 1 "" nsv461450 1 48009550 48055171 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537836 S 1557 0 1 LOC388630 1780862021_A nsv766 1 48143807 48178011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9101 S 9 1 0 LOC388630 NA12156 esv1265813 1 48175363 48175488 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690292 S 2 0 1 LOC388630 HuRef nsv871647 1 48218078 48336854 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572868 S 6533 1 0 LOC388630 IS33188 nsv511691 1 48225170 48229097 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626330 S 1 0 1 LOC388630 1 esv21603 1 48241670 48243609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9981 S 451 0 1 "" NA19240 nsv522413 1 48246580 48255784 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695196 S 2026 1 0 "" nsv871563 1 48306420 48438185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597033 S 6533 0 1 SKINTL IS40708 nsv871053 1 48322260 49022191 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549535 S 6533 1 0 AGBL4,BEND5,SKINTL,SLC5A9,SPATA6 MS18261 esv4009 1 48465526 48465923 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26450 S 1 0 1 Single Asian sample YH SLC5A9 YH esv2524958 1 48493994 48496839 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182226 S 1 0 1 "" NA18507 esv2297840 1 48494551 48496427 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4513063 S 1 0 1 "" NA18507 esv23640 1 48494728 48496296 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11632 S 451 0 1 "" NA18523 esv2478227 1 48494929 48496929 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345586 S 1 0 1 "" NA18507 nsv508182 1 48502518 48592054 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618972 S 4 0 1 SPATA6 NA10860 nsv870765 1 48504233 48674121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600920 S 6533 0 1 SPATA6 IS41948 esv1490132 1 48521976 48521976 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048787 S 2 1 0 "" HuRef esv2566377 1 48667070 48667131 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202131 S 1 0 1 SPATA6 NA18507 nsv461461 1 48689603 48750171 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537847 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SPATA6 HGDP00899 esv1067911 1 48722242 48722242 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178590 S 2 1 0 "" HuRef esv273711 1 48745018 48745334 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579145 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269936 1 48745090 48745426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520979,essv2532073,essv2537051,essv2527234,essv2551186,essv2538755,essv2526432,essv2530384,essv2568762,essv2545136,essv2546025,essv2551285 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18505,NA18517,NA18522,NA18858,NA19108,NA19114,NA19141,NA19147,NA19172,NA19239,NA19257 dgv222n71 1 48836684 48864274 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871258,nsv871176 M 6533 0 3 AGBL4 SP54220,SP57599,SP81352 nsv777 1 48874062 48907721 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1118 S 9 1 0 AGBL4 NA19240 esv992229 1 48935360 48938069 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563572 S 3 1 0 AGBL4 HuRef esv22537 1 48949172 48949757 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10249 S 451 5 0 AGBL4 NA18505,NA18508,NA19099,NA19114,NA19190 nsv829771 1 48951445 49133448 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445963 S 95 1 0 AGBL4,BEND5 nsv521306 1 49101454 49102291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697912 S 2026 0 1 AGBL4 dgv223n71 1 49109043 49302179 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871648,nsv871373 M 6533 0 2 AGBL4 IS41877,MS20359 esv272726 1 49117561 49117885 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579951,essv2579315 M 7 2 0 Samples from several populations that are part of the HapMap project. AGBL4 NA12892,NA19239 esv268260 1 49130239 49130565 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575904,essv2546438,essv2526006,essv2542265,essv2544537,essv2552012,essv2520302,essv2529406,essv2558245,essv2519731,essv2570268,essv2578290,essv2555314,essv2555503,essv2529938,essv2534448,essv2573695,essv2563495 M 157 18 0 Samples from several populations that are part of the HapMap project. AGBL4 NA10847,NA11830,NA11881,NA11918,NA11919,NA12414,NA12489,NA12716,NA12749,NA12750,NA18566,NA18593,NA18940,NA18943,NA18945,NA18949,NA18959,NA18964 nsv829782 1 49179329 49356826 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445974 S 95 0 1 AGBL4 nsv527526 1 49179882 49179984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703981 S 2026 0 1 AGBL4 nsv509235 1 49194007 49202234 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621094 S 4 1 0 AGBL4 NA15510 nsv788 1 49194011 49203632 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4179 S 9 1 0 AGBL4 NA12878 esv274217 1 49201284 49206701 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578892 S 7 1 0 Samples from several populations that are part of the HapMap project. AGBL4 NA19239 esv270062 1 49201294 49206739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496645,essv2505561,essv2503857,essv2508876,essv2500324,essv2496593,essv2512597,essv2511909,essv2510768,essv2494327,essv2493202,essv2504242,essv2509887,essv2496488,essv2501171,essv2493765,essv2494653,essv2508953,essv2508307,essv2507850,essv2500656,essv2499284,essv2500952,essv2498521,essv2505839,essv2507095,essv2513365,essv2509167,essv2507362,essv2502448,essv2501418,essv2504721,essv2506876,essv2506603,essv2510946,essv2498771,essv2497503,essv2496934,essv2499840,essv2501779,essv2503671 M 157 41 0 Samples from several populations that are part of the HapMap project. AGBL4 NA06986,NA11894,NA12154,NA12761,NA12878,NA12891,NA18486,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18519,NA18522,NA18561,NA18564,NA18571,NA18605,NA18856,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18948,NA19093,NA19099,NA19102,NA19108,NA19116,NA19138,NA19147,NA19190,NA19225,NA19239 nsv799 1 49228483 49260998 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5553 S 9 1 0 AGBL4 NA19129 nsv829793 1 49280862 49433306 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445985,nssv1445996 M 95 2 0 AGBL4 esv1541386 1 49306174 49306648 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763364 S 2 0 1 AGBL4 HuRef nsv819895 1 49313712 49320229 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419779 S 2 1 0 AGBL4 AK1 esv1114612 1 49322383 49322437 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320297 S 2 0 1 AGBL4 HuRef nsv525248 1 49352874 49353593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701341 S 2026 0 1 AGBL4 esv22622 1 49391899 49392626 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9758 S 451 0 1 AGBL4 NA19129 esv259621 1 49494938 49495376 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393699 S 6 0 0 Samples from several populations that are part of the HapMap project. AGBL4 NA19238 nsv871774 1 49520305 49792436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549305 S 6533 0 1 AGBL4 MS18182 esv270529 1 49634492 49634770 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497341,essv2504568,essv2512302 M 157 3 0 Samples from several populations that are part of the HapMap project. AGBL4 NA18545,NA18563,NA18949 nsv516709 1 49701076 49721593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681185,nssv678041,nssv670303,nssv661313 M 2026 0 4 AGBL4 nsv518328 1 49701076 49774752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695758 S 2026 0 1 AGBL4 nsv829804 1 49818702 50004651 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446007 S 95 0 1 AGBL4 nsv829815 1 49901767 50094596 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446018,nssv1446029 M 95 2 0 AGBL4 nsv521615 1 50066008 50229424 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698233 S 2026 0 1 AGBL4 esv1301667 1 50186255 50186255 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766089 S 2 1 0 AGBL4 HuRef esv28920 1 50251023 50257316 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17349 S 451 0 1 AGBL4 NA12828 nsv160710 1 50257596 50260873 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179288 M 24 AGBL4 nsv810 1 50272848 50321811 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2121 S 9 0 1 ELAVL4 NA18555 nsv498670 1 50301285 50314489 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585453 S 9 0 1 ELAVL4 nsv829826 1 50332399 50513729 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446051,nssv1446040 M 95 2 0 ELAVL4 esv992405 1 50470171 50470774 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564636 S 3 1 0 "" HuRef nsv528957 1 50538569 50595501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705653 S 2026 0 1 "" nsv822542 1 50541867 50543817 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431809 S 31 0 1 "" AK20 esv2655210 1 50607292 50607976 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340936 S 1 1 0 "" NA18507 esv1410288 1 50620114 50620114 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722967 S 2 1 0 "" HuRef esv1530192 1 50620190 50620190 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353403 S 2 1 0 "" HuRef esv268665 1 50685214 50685299 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514396,essv2518227 M 157 2 0 Samples from several populations that are part of the HapMap project. FAF1 NA12874,NA19240 esv274345 1 50685214 50685299 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581294 S 7 1 0 Samples from several populations that are part of the HapMap project. FAF1 NA19240 esv268038 1 50768544 50768629 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515988 S 157 1 0 Samples from several populations that are part of the HapMap project. FAF1 NA12873 esv269208 1 50776439 50776767 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512560,essv2511717,essv2504224,essv2496168,essv2494876,essv2509216,essv2506517,essv2510926,essv2497077,essv2512095 M 157 10 0 Samples from several populations that are part of the HapMap project. FAF1 NA18489,NA18499,NA18505,NA18511,NA18520,NA18909,NA19108,NA19116,NA19190,NA19238 esv272813 1 50776444 50776800 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580695,essv2579525 M 7 2 0 Samples from several populations that are part of the HapMap project. FAF1 NA19238,NA19240 esv269625 1 50802519 50802818 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510147,essv2506797,essv2502322,essv2512411,essv2495321,essv2510321,essv2493373,essv2503584,essv2503966 M 157 9 0 Samples from several populations that are part of the HapMap project. FAF1 NA06986,NA07037,NA11829,NA11918,NA12004,NA12043,NA12287,NA12414,NA12776 nsv821 1 50871659 50905038 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9112 S 9 1 0 FAF1 NA12156 nsv832 1 50941810 50986699 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9118 S 9 0 1 FAF1 NA12156 dgv224n71 1 51188582 51214549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870850,nsv870561 M 6533 0 2 CDKN2C,FAF1 SP54043,SP57469 dgv225n71 1 51188582 51230960 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871262,nsv871356 M 6533 0 5 CDKN2C,FAF1 SP51109,SP54725,SP54956,SP54988,SP55021 nsv870748 1 51197144 51221589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511168 S 6533 0 1 CDKN2C,FAF1 SP55019 nsv526838 1 51242830 51248076 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703195 S 2026 0 1 "" esv272092 1 51600219 51600600 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508071,essv2501659,essv2493381,essv2495203,essv2511579 M 157 5 0 Samples from several populations that are part of the HapMap project. EPS15 NA07346,NA12045,NA12144,NA12776,NA18964 esv25434 1 51687865 51689975 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12448 S 451 0 3 EPS15 NA18523,NA19099,NA19129 esv273142 1 51747480 51747828 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580173,essv2580331,essv2579140 M 7 3 0 Samples from several populations that are part of the HapMap project. EPS15 NA12878,NA12891,NA19239 nsv518552 1 51780741 51789301 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695995 S 2026 0 1 "" nsv159730 1 51798132 51802312 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178308 M 24 "" esv1052378 1 51949752 51949752 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148505 S 2 1 0 OSBPL9 HuRef nsv508193 1 51972748 51976382 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622763 S 4 0 1 OSBPL9 NA18994 esv1008107 1 52005251 52012166 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565406 S 3 0 1 OSBPL9 HuRef esv1546529 1 52042838 52042838 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733512 S 2 1 0 NRD1 HuRef nsv519495 1 52066158 52070739 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696883 S 2026 0 1 NRD1 nsv829837 1 52078423 52187326 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446129,nssv1446284,nssv1446162,nssv1446273,nssv1446340,nssv1446240,nssv1446207,nssv1446173,nssv1446185,nssv1446329,nssv1446151,nssv1446218,nssv1446062,nssv1446351,nssv1446118,nssv1446307,nssv1446074,nssv1446318,nssv1446085,nssv1446229,nssv1446096,nssv1446296,nssv1446251,nssv1446262,nssv1446362,nssv1446196,nssv1446107,nssv1446140 M 95 0 28 NRD1,RAB3B esv2551965 1 52090335 52091077 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337373 S 1 1 0 NRD1 NA18507 nsv512738 1 52090657 52090874 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625364 S 1 1 0 NRD1 1 esv1684865 1 52090816 52090816 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851654 S 2 1 0 NRD1 HuRef nsv843 1 52124383 52165274 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9125,nssv1136,nssv5554,nssv2131,nssv4189 M 9 5 0 RAB3B NA12156,NA12878,NA18555,NA19129,NA19240 nsv829848 1 52141199 52314287 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446518,nssv1446384,nssv1446373,nssv1446440,nssv1446451,nssv1446407,nssv1446429,nssv1446462,nssv1446484,nssv1446495,nssv1446506,nssv1446540,nssv1446395,nssv1446418,nssv1446473,nssv1446529 M 95 0 16 BTF3L4,KTI12,RAB3B,TXNDC12 nsv509246 1 52141242 52177538 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617994,nssv619794,nssv621095 M 4 3 0 RAB3B CHM,NA10860,NA15510 esv1010825 1 52145010 52147511 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565703 S 3 1 0 RAB3B HuRef esv1693930 1 52222032 52222032 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847906 S 2 1 0 RAB3B HuRef esv24521 1 52227625 52228590 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10185 S 451 0 1 RAB3B NA11995 esv25536 1 52380137 52380807 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12747 S 451 0 1 ZFYVE9 NA12489 nsv855 1 52393779 52426134 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5571 S 9 1 0 ZFYVE9 NA19129 nsv819763 1 52501757 52502158 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418936 S 2 1 0 ZFYVE9 AK1 nsv822553 1 52521020 52523353 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428022 S 31 0 1 ZFYVE9 AK10 esv1012300 1 52569790 52570083 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325530 S 2 0 1 ZFYVE9 HuRef esv988243 1 52780175 52781999 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565052 S 3 1 0 ZCCHC11 HuRef nsv527810 1 52829185 52831694 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704304 S 2026 0 1 "" esv1918082 1 52876376 52876796 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4618488 S 1 0 1 FAM159A NA18507 dgv50e1 1 52898603 53061769 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv335,essv1203 M 271 0 0 SELRC1,ZYG11B NA18951 nsv871800 1 52926020 53144507 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555292 S 6533 0 1 ECHDC2,SELRC1,ZYG11A,ZYG11B MS21258 nsv829859 1 52961730 53163533 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446573,nssv1446562,nssv1446584,nssv1446551 M 95 0 4 ECHDC2,ZYG11A,ZYG11B esv1751396 1 53022162 53022162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256136 S 2 1 0 ZYG11B HuRef nsv866 1 53045555 53083696 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9134 S 9 0 1 ZYG11A,ZYG11B NA12156 esv6479 1 53065010 53065110 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28920 S 1 1 0 ZYG11B SJK esv24261 1 53128283 53130141 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10399 S 451 0 1 ZYG11A NA18517 nsv870582 1 53144507 53337174 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564752 S 6533 1 0 ECHDC2,PODN,SCP2,SLC1A7 IS30294 nsv870668 1 53175140 53275561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568847 S 6533 0 1 SCP2 IS31369 nsv870947 1 53204575 53234061 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514387 S 6533 0 1 SCP2 SP56004 nsv10150 1 53256062 53261150 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19433 S 31 1 0 Samples from several populations that are part of the HapMap project. SCP2 NA18972 nsv441693 1 53261038 53262328 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SCP2 dgv51e1 1 53261152 53304705 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11349,esv1097 M 271 0 0 PODN,SCP2 NA19128 nsv514927 1 53261728 53262316 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628449 S 1414 0 0 SCP2 dgv36n67 1 53266620 53268167 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822564,nsv822575 M 31 0 2 SCP2 AK16,AK2 nsv522862 1 53276999 53340309 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698517 S 2026 0 1 PODN,SCP2,SLC1A7 essv13816 1 53287085 53302956 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. PODN,SCP2 NA18853 esv24212 1 53291827 53292484 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14289 S 451 0 1 "" NA18505 nsv516780 1 53292714 53340309 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670772,nssv660861,nssv686801,nssv687629,nssv703091,nssv701768,nssv660166,nssv672612,nssv700439,nssv692841,nssv675520 M 2026 1 10 PODN,SLC1A7 dgv226n71 1 53297750 53345908 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870475,nsv871878 M 6533 0 2 PODN,SLC1A7 IS38403,MS10311 nsv818167 1 53308066 53315381 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417740 S 112 0 1 PODN NA19003 esv21434 1 53333228 53341502 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15060 S 451 2 1 SLC1A7 NA06985,NA12044,NA19114 nsv822587 1 53334248 53339846 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436336 S 31 1 0 SLC1A7 NA18542 esv2306191 1 53335520 53335888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820247 S 1 0 1 SLC1A7 NA18507 esv998975 1 53337495 53337495 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578735 S 3 1 0 SLC1A7 HuRef nsv160120 1 53337524 53337524 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178698 M 24 SLC1A7 nsv871058 1 53341466 53372666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585566 S 6533 0 1 SLC1A7 IS37546 nsv822598 1 53366578 53368169 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439456,nssv1423452 M 31 0 2 SLC1A7 NA18537,NA18968 esv26895 1 53366780 53368162 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13636 S 451 0 5 SLC1A7 NA11894,NA11931,NA12044,NA12749,NA12828 nsv526458 1 53401150 53401403 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702761 S 2026 1 0 "" nsv520450 1 53401403 53403119 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680733,nssv684433,nssv671581 M 2026 3 0 "" esv2422213 1 53418151 53497027 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161539 S 181 1 0 C1orf123,CPT2,LOC100507564,LRP8,MAGOH ND01562 nsv829871 1 53439131 53621308 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446595 S 95 0 1 C1orf123,CPT2,LOC100507564,LRP8,MAGOH nsv509258 1 53498099 53524215 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619795 S 4 1 0 LRP8 NA10860 nsv461483 1 53531660 53614687 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537868 S 1557 1 0 LRP8 NINDS_15 nsv509269 1 53534896 53821357 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619797,nssv619799,nssv619800,nssv619798 M 4 1 0 DMRTB1,FLJ40434,GLIS1,LRP8 NA10860 esv21984 1 53565853 53566605 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19147 S 451 0 1 LRP8 NA12489 nsv159942 1 53591521 53592861 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178520 M 24 "" nsv871730 1 53674425 53793130 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529781 S 6533 0 1 DMRTB1,FLJ40434,GLIS1 MS10123 nsv877 1 53688166 53721492 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9140 S 9 1 0 DMRTB1 NA12156 nsv829882 1 53688253 53868201 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446606,nssv1446617 M 95 0 2 DMRTB1,GLIS1 dgv227n71 1 53689986 53767150 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871351,nsv870666 M 6533 0 3 DMRTB1,GLIS1 MS10769,MS16153,MS17208 dgv52e1 1 53691140 53801824 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6044,essv1281,essv20362,essv18625,essv21735,essv16908,essv22593,essv12656,essv19216,essv6235,essv13482,esv443,essv9327,essv13901,essv16791,essv15670,essv3947,essv7858,essv1994,essv23892,essv7523 M 271 0 0 DMRTB1,GLIS1 NA07348,NA10830,NA10838,NA12234,NA12248,NA12814,NA18500,NA18545,NA18558,NA18571,NA18636,NA18853,NA18854,NA18872,NA18912,NA18949,NA18970,NA18995,NA19192,NA19205 nsv428443 1 53691140 53801824 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450243,nssv450254 M 62 2 0 DMRTB1,GLIS1 HGDP00476,HGDP01093 dgv37n67 1 53705955 53706519 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822609,nsv822620 M 31 2 0 "" NA18526,NA18968 nsv888 1 53709793 53746882 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6602 S 9 0 1 GLIS1 NA12156 dgv228n71 1 53731403 53787080 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871236,nsv871166,nsv870853 M 6533 0 3 GLIS1 IS35007,IS35484,MS11726 nsv527806 1 53737654 53748776 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704300 S 2026 0 1 GLIS1 esv26850 1 53740342 53741342 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18493 S 451 1 0 "" NA06985 nsv522165 1 53744637 53777648 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694938 S 2026 0 1 GLIS1 nsv512739 1 53763703 53763787 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625366 S 1 1 0 GLIS1 1 nsv10162 1 53772851 53775276 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13430 S 31 0 1 Samples from several populations that are part of the HapMap project. GLIS1 NA18853 nsv870751 1 53788941 53962256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546463 S 6533 0 1 GLIS1 MS17208 nsv899 1 53812744 53848076 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4208 S 9 1 0 GLIS1 NA12878 nsv509280 1 53878256 53947541 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619801 S 4 1 0 GLIS1 NA10860 nsv461494 1 53899292 53934133 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537879 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GLIS1 HGDP01290 nsv461506 1 53925291 53962256 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537890 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GLIS1 HGDP00515 esv2313944 1 53947446 53947852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934662 S 1 0 1 GLIS1 NA18507 esv1769487 1 53951543 53951543 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777080 S 2 1 0 GLIS1 HuRef esv27981 1 54124016 54126041 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17017 S 451 0 1 YIPF1 NA19099 esv22788 1 54140226 54142306 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10550 S 451 0 3 DIO1 NA18517,NA18916,NA19257 nsv516392 1 54140841 54142318 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663460,nssv686306,nssv679576,nssv677077,nssv671284,nssv662307,nssv668000,nssv691801 M 2026 0 8 DIO1 esv27044 1 54184876 54185589 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17330 S 451 0 1 LRRC42 NA12006 esv275008 1 54207186 54220665 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585314 S 1250 0 1 "" dgv17n27 1 54350989 54363910 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461528,nsv461517 M 1557 2 0 "" 1780854105_A,1780854558_A nsv470712 1 54350989 54363910 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547730 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00578 nsv461539 1 54356866 54370863 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537919 S 1557 0 1 "" 1780862412_A nsv871920 1 54379745 54415063 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590430 S 6533 1 0 CDCP2,CYB5RL IS38511 esv24487 1 54384801 54387753 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14664 S 451 0 1 CDCP2 NA18511 dgv5n21 1 54385957 54388187 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524287,nsv520256 M 2026 0 7 CDCP2 nsv829893 1 54521444 54715281 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446629 S 95 0 1 SSBP3 nsv509291 1 54534730 54649255 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619802 S 4 1 0 SSBP3 NA10860 nsv461550 1 54541917 54559997 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537929 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SSBP3 HGDP00857 nsv470713 1 54547791 54571340 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547731 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SSBP3 HGDP01228 nsv870514 1 54604389 54775077 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524636 S 6533 1 0 SSBP3 SP55134 nsv822631 1 54642065 54646166 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426387 S 31 1 0 SSBP3 AK6 nsv461561 1 54642404 55125958 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537939 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACOT11,C1orf177,DHCR24,FAM151A,HEATR8,HEATR8-TTC4,PARS2,SSBP3,TTC22,TTC4 HGDP00764 esv2490522 1 54714608 54714674 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313979 S 1 0 1 "" NA18507 nsv871766 1 54741082 54822394 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502908 S 6533 1 0 ACOT11 SP51449 nsv461572 1 54756695 54842574 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537947 S 1557 1 0 ACOT11 1780854017_A nsv829904 1 54786874 54959645 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446640 S 95 0 1 ACOT11,FAM151A,HEATR8,HEATR8-TTC4,TTC4 nsv461583 1 54797516 54822394 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537958 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACOT11 HGDP01195 nsv871016 1 54797516 54823220 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501448 S 6533 1 0 ACOT11 SP50855 nsv516654 1 54818627 54850634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684126,nssv680692,nssv669917,nssv682791 M 2026 0 4 ACOT11,FAM151A nsv817614 1 54819123 55973612 CNV Gain Forsberg_et_al_2012 22305530 SNP_array Illumina Human1M-Duov3 DNA Analysis BeadChip (Human1M-Duov3_B) + Illumina Human660W Quad v1 + Illumina Human660W-Quad v1.0 BeadChip + Illumina Human1M Duo v3 + Illumina Human1M-Duov3 DNA Analysis BeadChip (Human1M-Duov3_B) + Illumina Human660W-Quad v1.0 BeadChip nssv1415558 S 6 1 0 ACOT11,BSND,C1orf177,DHCR24,FAM151A,HEATR8,HEATR8-TTC4,LOC100507634,MIR4422,PARS2,PCSK9,TMEM61,TTC22,TTC4,USP24 102,GEO:GSM849756 nsv461594 1 54831883 54995778 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537968 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACOT11,FAM151A,HEATR8,HEATR8-TTC4,PARS2,TTC4 HGDP01101 dgv229n71 1 54842574 55157019 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871317,nsv870706 M 6533 2 0 ACOT11,C1orf177,DHCR24,FAM151A,HEATR8,HEATR8-TTC4,PARS2,TTC22,TTC4 SP51449,SP55134 nsv910 1 54844047 54901583 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6611,nssv2142 M 9 0 2 ACOT11,FAM151A,HEATR8,HEATR8-TTC4 NA12156,NA18555 esv33550 1 54861486 54879213 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100678,essv94059,essv94047,essv97050,essv97032,essv93059,essv101671,essv97113,essv100011,essv99560 M 51 4 4 ACOT11,FAM151A 21656,21802,21817,21863,21909,22075,22086,22335 esv24082 1 54861813 54868562 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19377,esv16814,esv19119 M 451 23 1 ACOT11 NA07045,NA11931,NA11993,NA12044,NA12239,NA12287,NA12749,NA12828,NA12878,NA18508,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2651907 1 54863814 54868582 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282507 S 1 0 1 ACOT11 NA18507 esv2181722 1 54864671 54868727 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551491 S 1 0 1 ACOT11 NA18507 nsv822642 1 54864767 54865524 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422369 S 31 1 0 ACOT11 NA18552 dgv38n67 1 54864767 54865999 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822675,nsv822653 M 31 0 2 ACOT11 AK2,AK20 esv1002091 1 54864767 54865999 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586810 S 3 1 0 ACOT11 HuRef dgv39n67 1 54864767 54866063 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822686,nsv822664 M 31 3 0 ACOT11 AK12,AK16,NA18997 nsv822698 1 54864767 54866715 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427253,nssv1424040,nssv1426388,nssv1439295,nssv1423474,nssv1440809 M 31 3 3 ACOT11 AK6,AK8,NA18592,NA18947,NA18968,NA18969 nsv822709 1 54864767 54876075 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437596 S 31 1 0 ACOT11 NA18547 nsv820219 1 54864797 54876172 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418608 S 2 1 0 ACOT11 AK1 esv1004742 1 54864917 54868101 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586765 S 3 1 0 ACOT11 HuRef nsv821518 1 54864917 54868562 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420314 S 1 0 1 ACOT11 NA10851 nsv822720 1 54864917 54868562 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423958,nssv1423485,nssv1428824,nssv1431069,nssv1430343,nssv1426389,nssv1439457,nssv1440810,nssv1421451,nssv1437607,nssv1423115,nssv1436337,nssv1427254,nssv1434167,nssv1437936,nssv1432097,nssv1425494,nssv1428023,nssv1440406,nssv1429560,nssv1435653,nssv1424736,nssv1422370,nssv1433417,nssv1431811,nssv1440122,nssv1424053,nssv1437222,nssv1438586,nssv1434865 M 31 0 30 ACOT11 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv2628077 1 54864938 54867840 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211693 S 1 0 1 ACOT11 NA18507 nsv461605 1 54892103 54923052 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537979 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HEATR8,HEATR8-TTC4 HGDP00031 esv259647 1 54957461 54957850 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393663,essv2394385 M 6 0 0 Samples from several populations that are part of the HapMap project. HEATR8-TTC4,TTC4 NA19238,NA19240 esv259828 1 54957470 54957855 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396775,essv2399111,essv2396256,essv2398091,essv2395394,essv2395243,essv2395656,essv2399900,essv2398557,essv2396125,essv2396047,essv2399919,essv2398202,essv2396979,essv2398343,essv2400976,essv2395219,essv2399768,essv2399496,essv2398687,essv2395952,essv2400477 M 144 0 0 Samples from several populations that are part of the HapMap project. HEATR8-TTC4,TTC4 NA07000,NA11920,NA12006,NA12144,NA12749,NA18499,NA18501,NA18504,NA18516,NA18523,NA18537,NA18856,NA18909,NA18973,NA19093,NA19099,NA19108,NA19129,NA19137,NA19190,NA19238,NA19240 nsv871008 1 54985572 55046168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592107 S 6533 0 1 C1orf177,PARS2,TTC22 IS39233 dgv53e1 1 55042239 55081197 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1261,essv8508 M 271 0 0 C1orf177 NA18854 nsv160901 1 55047252 55047252 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179479 M 24 C1orf177 esv1945281 1 55059971 55060646 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673376 S 1 0 1 C1orf177 NA18507 esv3026 1 55060099 55060555 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25467 S 1 0 1 Single Asian sample YH C1orf177 YH esv1224986 1 55060150 55060468 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3623019 S 2 0 1 C1orf177 HuRef esv6692 1 55060156 55060486 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29133 S 1 0 1 C1orf177 SJK nsv829915 1 55067201 55230951 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446651 S 95 1 0 C1orf177,DHCR24,TMEM61 essv12120 1 55067310 55077424 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. C1orf177 NA19173 dgv54e1 1 55067310 55081197 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8408,essv8896 M 271 0 0 C1orf177 NA19093,NA19171 nsv10173 1 55073253 55079201 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13760,nssv16439 M 31 0 2 Samples from several populations that are part of the HapMap project. C1orf177 NA18853,NA19173 esv23914 1 55073771 55077579 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12312 S 451 0 1 C1orf177 NA19108 nsv514928 1 55074400 55076240 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628450 S 1414 0 0 C1orf177 esv2421957 1 55074411 55078004 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5067688,essv5076130,essv5024459,essv5114520,essv5143862,essv5056375,essv5025794,essv5063941,essv5048083,essv5059939,essv5082225,essv5022758,essv5116726,essv5092004,essv5034897,essv5091721,essv5083966,essv5062900,essv5015678,essv5053943,essv5121699,essv5028583,essv5047126,essv5077999,essv5054924,essv5086649,essv5006240,essv5048280,essv5116932,essv5117155,essv5032883,essv5147974,essv5030730,essv5118809,essv5099243,essv5076734,essv5018853,essv5154470,essv5086826,essv5056173,essv5014992,essv5134414,essv5117456,essv5076964,essv5092400,essv5027944,essv5046238,essv5076947,essv5046714,essv5143274,essv5014607,essv5067922,essv5037627,essv5139152,essv5047861,essv5116057,essv5127388,essv5140253,essv5067844,essv5136254,essv5054227,essv5012658,essv5039250,essv5053869,essv5072699,essv5084743,essv5152692,essv5063607,essv5112313,essv5153962,essv5132127,essv5023715,essv5111164,essv5009869,essv5054067,essv5086968,essv5041910,essv5124881,essv5094672,essv5003777,essv5030915,essv5005039,essv5012483,essv5032901,essv5038356,essv5055206,essv5134018,essv5108291,essv5100519,essv5150072,essv5053130,essv5013116,essv5113225,essv5087905,essv5142683,essv5117510,essv5114403,essv5022148,essv5016388,essv5046228,essv5005254,essv5153605,essv5005931,essv5026721,essv5062500,essv5044658,essv5036642,essv5070864,essv5155945,essv5012207,essv5033281,essv5117642,essv5149682,essv5022838,essv5052571,essv5029693,essv5147908,essv5120472,essv5100195,essv5041743,essv5111313,essv5006266,essv5099814,essv5113353,essv5117493,essv5101395,essv5150737,essv5061845,essv5055369,essv5068195,essv5014296,essv5052121,essv5134475,essv5156431,essv5072239,essv5124999,essv5112063,essv5156959,essv5090258,essv5069892,essv5025336,essv5066653,essv5149612,essv5148914,essv5038513,essv5104586,essv5105713,essv5058800,essv5150213,essv5052559,essv5012036,essv5136953,essv5152286,essv5145569,essv5021627,essv5053676,essv5034970 M 1184 157 0 C1orf177 NA06993,NA06994,NA07000,NA07022,NA07029,NA07055,NA07056,NA07345,NA07348,NA07357,NA10830,NA10831,NA10835,NA10838,NA10839,NA10846,NA10847,NA10854,NA10855,NA10856,NA10861,NA10863,NA11829,NA11830,NA11832,NA11840,NA11881,NA11993,NA11994,NA11995,NA12005,NA12006,NA12043,NA12056,NA12057,NA12144,NA12145,NA12155,NA12156,NA12248,NA12249,NA12264,NA12740,NA12751,NA12752,NA12761,NA12763,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA12865,NA12872,NA12892,NA18501,NA18506,NA18507,NA18508,NA18515,NA18532,NA18542,NA18550,NA18561,NA18564,NA18566,NA18572,NA18576,NA18582,NA18594,NA18605,NA18608,NA18609,NA18620,NA18623,NA18633,NA18637,NA18852,NA18858,NA18859,NA18862,NA18871,NA18872,NA18912,NA18913,NA18914,NA18940,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18994,NA18995,NA18997,NA18998,NA19000,NA19005,NA19094,NA19098,NA19099,NA19101,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19152,NA19159,NA19160,NA19161,NA19194,NA19203,NA19204,NA19206,NA19207,NA19208,NA19210,NA19211,NA19222 nsv441694 1 55074411 55078004 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C1orf177 esv2078805 1 55106731 55107151 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822883 S 1 0 1 DHCR24 NA18507 esv995636 1 55106925 55106976 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585443 S 3 0 1 DHCR24 HuRef esv1764339 1 55106932 55106984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120347 S 2 0 1 DHCR24 HuRef esv2550618 1 55142964 55144904 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369498 S 1 0 1 "" NA18507 esv2207439 1 55143848 55144927 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904648 S 1 0 1 "" NA18507 nsv523732 1 55152527 55158315 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699548 S 2026 1 0 "" nsv515980 1 55158174 55158315 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656770,nssv682312,nssv691742,nssv665573 M 2026 4 0 "" nsv527361 1 55158174 55169994 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703791 S 2026 1 0 "" esv2431579 1 55241098 55241869 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245033 S 1 1 0 BSND NA18507 nsv506929 1 55259164 55265164 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620654 S 4 1 0 "" NA15510 nsv523036 1 55268583 55268719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698719 S 2026 0 1 "" nsv527129 1 55273017 55296572 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703514 S 2026 0 1 PCSK9 nsv518539 1 55273017 55326142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695983 S 2026 0 1 PCSK9,USP24 nsv871300 1 55273564 55293452 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508508 S 6533 1 0 PCSK9 SP54620 nsv870795 1 55277238 55287199 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506953 S 6533 1 0 PCSK9 SP54442 nsv870896 1 55277238 55310658 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506603 S 6533 1 0 PCSK9,USP24 SP54381 nsv518638 1 55282460 55298884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696087 S 2026 0 1 PCSK9 nsv527707 1 55288592 55298884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704186 S 2026 0 1 PCSK9 dgv230n71 1 55289932 55296390 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871169,nsv871473 M 6533 2 0 PCSK9 SP52077,SP54650 nsv871653 1 55290754 55294729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509754 S 6533 0 1 PCSK9 SP54956 nsv517995 1 55296572 55298884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678581,nssv655142 M 2026 0 2 PCSK9 nsv525879 1 55329655 55404238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702079 S 2026 0 1 USP24 nsv921 1 55416110 55449535 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5572 S 9 1 0 USP24 NA19129 esv2496177 1 55425996 55427353 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306781 S 1 0 1 USP24 NA18507 nsv512740 1 55478460 55478644 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625367 S 1 1 0 "" 1 esv1012330 1 55478495 55478495 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275800 S 2 1 0 "" HuRef nsv437209 1 55491599 55504321 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467090 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19094 nsv10184 1 55501343 55857421 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14073,nssv16769 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA19173 nsv871570 1 55558362 55655110 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505844 S 6533 1 0 "" SP54002 esv2336884 1 55611816 55612241 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4532235 S 1 0 1 "" NA18507 esv28904 1 55623755 55628131 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10041 S 451 0 3 "" NA18517,NA18916,NA19257 esv2562345 1 55623815 55628570 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392322 S 1 0 1 "" NA18507 esv2559365 1 55624222 55626514 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323990 S 1 0 1 "" NA18507 nsv517685 1 55625575 55633149 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666200,nssv667056,nssv679069,nssv690335,nssv684636,nssv691008,nssv666543,nssv672297,nssv653812,nssv655580,nssv664077,nssv656318,nssv672800,nssv678181,nssv693159,nssv668001,nssv654230,nssv664967,nssv652613 M 2026 0 19 "" esv2007537 1 55658781 55659219 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939608 S 1 0 1 "" NA18507 esv2382850 1 55747206 55747584 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4704780 S 1 0 1 "" NA18507 nsv160526 1 55747311 55747364 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179104 M 24 "" esv22041 1 55774975 55775527 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11545 S 451 0 2 "" NA11995,NA12006 nsv523489 1 55810995 55839091 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699256 S 2026 1 0 "" nsv461617 1 55827778 55896098 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537991 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00279 esv2646605 1 55833809 55835343 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241069 S 1 0 1 "" NA18507 nsv522334 1 55840764 55840982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695114 S 2026 0 1 "" nsv528352 1 55840764 55840982 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704937 S 2026 1 0 "" nsv526148 1 55874185 55919038 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702406 S 2026 1 0 "" esv2562695 1 55898730 55906739 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196280 S 1 0 1 "" NA18507 esv1073347 1 55901990 55902086 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887661 S 2 0 1 "" HuRef nsv829926 1 55961080 56133333 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446662 S 95 1 0 "" esv271167 1 56041200 56042171 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508677,essv2495979,essv2500764,essv2507035 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18592,NA18961,NA18973,NA19102 nsv527396 1 56042409 56053497 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703831 S 2026 0 1 "" esv2614647 1 56173354 56174938 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230133 S 1 0 1 "" NA18507 esv2378584 1 56173687 56174385 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586160 S 1 0 1 "" NA18507 esv2978 1 56173840 56174365 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25419 S 1 0 1 Single Asian sample YH "" YH esv9548 1 56173874 56174189 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31989 S 1 0 1 "" SJK esv1001410 1 56173880 56174200 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583660 S 3 0 1 "" HuRef esv1318179 1 56173881 56174202 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4113643 S 2 0 1 "" HuRef nsv161096 1 56173882 56174202 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179674 M 24 "" nsv870513 1 56179815 56265694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539066 S 6533 0 1 "" MS14105 nsv528440 1 56184669 56192781 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705035 S 2026 0 1 "" nsv516750 1 56500834 56504268 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670628,nssv689111 M 2026 0 2 "" nsv524251 1 56563361 56564197 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700147 S 2026 1 0 "" nsv932 1 56589320 56614849 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4216 S 9 0 1 "" NA12878 nsv508204 1 56603432 56613445 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617438 S 4 0 1 "" CHM esv1005520 1 56603630 56612233 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565594 S 3 0 1 "" HuRef nsv511692 1 56603670 56607817 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626331 S 1 0 1 "" 1 esv4577 1 56603682 56607644 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27018 S 1 0 1 Single Asian sample YH "" YH esv8427 1 56603715 56607550 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30868 S 1 0 1 "" SJK esv270122 1 56651619 56651704 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514888,essv2514363,essv2517691,essv2519429 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12234,NA12874,NA12878 esv274553 1 56651619 56651704 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581392 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1998276 1 56660104 56660808 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4957104 S 1 0 1 "" NA18507 esv4146 1 56660244 56660659 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26587 S 1 0 1 Single Asian sample YH "" YH esv8756 1 56660293 56660606 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31197 S 1 0 1 "" SJK esv259501 1 56768517 56769034 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394163,essv2393887,essv2393814,essv2393745 M 6 0 0 Samples from several populations that are part of the HapMap project. PPAP2B NA12878,NA12891,NA12892,NA19238 esv259976 1 56768526 56769045 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396763,essv2400199,essv2400045,essv2394798,essv2396557,essv2401148,essv2400880,essv2398914,essv2396032,essv2395777,essv2396217,essv2400551,essv2398090,essv2396825,essv2399948,essv2399404,essv2398680,essv2400776,essv2395389,essv2396698,essv2399613,essv2397342,essv2401101,essv2396904,essv2395670,essv2399908,essv2397843,essv2399223,essv2394977,essv2398567,essv2396489,essv2397462,essv2395712,essv2395102,essv2398410,essv2399874,essv2399863,essv2398826,essv2398953,essv2399936,essv2399454,essv2400099,essv2398424,essv2398204,essv2400673,essv2395336,essv2396215,essv2397507,essv2398152,essv2397742,essv2394530,essv2395827,essv2399633,essv2394548,essv2398772,essv2398325,essv2399295,essv2395155,essv2395677,essv2399778,essv2398022,essv2398691,essv2395924,essv2394495 M 144 0 0 Samples from several populations that are part of the HapMap project. PPAP2B NA07000,NA07037,NA07051,NA07357,NA11919,NA11931,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12144,NA12155,NA12156,NA12287,NA12489,NA12717,NA12749,NA12750,NA12761,NA12878,NA12891,NA12892,NA18501,NA18504,NA18505,NA18508,NA18511,NA18516,NA18517,NA18520,NA18532,NA18550,NA18552,NA18561,NA18573,NA18582,NA18603,NA18856,NA18858,NA18861,NA18871,NA18909,NA18912,NA18916,NA18944,NA18947,NA18949,NA18956,NA18959,NA18961,NA18964,NA18965,NA19005,NA19093,NA19102,NA19108,NA19116,NA19129,NA19147,NA19190,NA19238,NA19257 esv270659 1 56775907 56775992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514104 S 157 1 0 Samples from several populations that are part of the HapMap project. PPAP2B NA12043 nsv528673 1 56821549 56832159 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705311 S 2026 0 1 "" esv2519231 1 56867435 56868959 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370210 S 1 0 1 "" NA18507 esv271956 1 56873366 56874781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508997,essv2500700,essv2507535,essv2495648,essv2506552 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA18571,NA18638,NA18916,NA19108 nsv523032 1 56889497 57022146 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698715 S 2026 1 0 C1orf168,PRKAA2 nsv520726 1 56916574 56978254 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674816,nssv677255 M 2026 0 2 C1orf168,PRKAA2 esv2568213 1 57014495 57016009 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220507 S 1 0 1 C1orf168 NA18507 esv2296236 1 57015008 57015759 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802800 S 1 0 1 C1orf168 NA18507 esv3554 1 57015165 57015649 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25995 S 1 0 1 Single Asian sample YH C1orf168 YH esv988788 1 57015207 57015545 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568819 S 3 0 1 C1orf168 HuRef esv1167886 1 57015213 57015552 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4094468 S 2 0 1 C1orf168 HuRef esv7859 1 57015214 57015543 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30300 S 1 0 1 C1orf168 SJK nsv160326 1 57015214 57015552 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178904 M 24 C1orf168 esv270436 1 57037164 57037350 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515550 S 157 1 0 Samples from several populations that are part of the HapMap project. C1orf168 NA12815 nsv508215 1 57092048 57123738 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617461 S 4 0 1 C8A CHM esv2557221 1 57166819 57167743 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202402 S 1 1 0 C8B NA18507 esv1122538 1 57167344 57167344 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152683 S 2 1 0 "" HuRef esv275547 1 57218906 57220328 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585916 S 1250 0 1 "" nsv822731 1 57220946 57221976 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432108 S 31 0 1 "" NA18972 esv2249607 1 57221133 57221584 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677458 S 1 0 1 "" NA18507 nsv10195 1 57319589 57323288 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14090 S 31 1 0 Samples from several populations that are part of the HapMap project. DAB1 NA18853 nsv10206 1 57325543 57331698 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14403,nssv12117,nssv11765,nssv17734 M 31 3 1 Samples from several populations that are part of the HapMap project. DAB1 NA07048,NA10839,NA10847,NA19132 nsv526087 1 57349026 57352198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702333 S 2026 0 1 DAB1 nsv943 1 57470741 57497646 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4224 S 9 1 0 DAB1 NA12878 esv25746 1 57529444 57530198 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19252 S 451 0 4 DAB1 NA06985,NA12828,NA15510,NA19108 dgv231n71 1 57556732 57630907 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871530,nsv871943,nsv871968 M 6533 0 4 DAB1 IS30171,IS34572,IS37428,MS22109 nsv954 1 57595728 57638387 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9167 S 9 0 1 DAB1 NA12156 esv2031864 1 57633834 57634243 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732758 S 1 0 1 DAB1 NA18507 nsv870908 1 57656898 57810371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599981 S 6533 0 1 DAB1 IS41825 nsv966 1 57658583 57688345 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5589 S 9 1 0 DAB1 NA19129 esv26685 1 57659932 57662877 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19188,esv20279 M 451 0 4 DAB1 NA11993,NA11995,NA12156,NA19099 nsv508013 1 57662511 57668511 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618495 S 4 0 1 DAB1 CHM nsv870802 1 57737702 57809619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583112 S 6533 0 1 DAB1 IS36262 nsv523574 1 57790691 57860377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699357 S 2026 0 1 DAB1 nsv871684 1 57793794 57868967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552179 S 6533 0 1 DAB1 MS19277 esv272319 1 57844436 57844679 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581640,essv2582408,essv2582885 M 7 3 0 Samples from several populations that are part of the HapMap project. DAB1 NA12878,NA12891,NA12892 nsv871620 1 57899759 57930366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504048 S 6533 0 1 DAB1 SP52172 esv6090 1 58010603 58010679 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28531 S 1 1 0 DAB1 SJK nsv829937 1 58030876 58179094 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446673 S 95 1 0 DAB1 nsv977 1 58108324 58140510 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4236,nssv9983 M 9 2 0 DAB1 NA12878,NA18956 esv2641726 1 58115209 58116609 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289869 S 1 0 1 DAB1 NA18507 esv2277330 1 58115624 58116326 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899661 S 1 0 1 DAB1 NA18507 esv4838 1 58115760 58116237 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27279 S 1 0 1 Single Asian sample YH DAB1 YH esv1002928 1 58115800 58116123 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585033 S 3 0 1 DAB1 HuRef esv1095459 1 58115811 58116135 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204514 S 2 0 1 DAB1 HuRef esv7642 1 58115813 58116131 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30083 S 1 0 1 DAB1 SJK esv275018 1 58221472 58223044 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586114 S 1250 0 1 DAB1 nsv527673 1 58298823 58304215 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704148 S 2026 0 1 DAB1 esv268153 1 58336408 58336493 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517430 S 157 1 0 Samples from several populations that are part of the HapMap project. DAB1 NA11918 nsv525581 1 58355567 58370814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701720 S 2026 0 1 DAB1 esv994666 1 58385034 58388147 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564289 S 3 0 1 DAB1 HuRef esv29351 1 58420019 58421694 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19339 S 451 0 1 DAB1 NA19190 nsv516742 1 58494898 58505638 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693252,nssv694369,nssv670576 M 2026 3 0 "" esv2608020 1 58515917 58518146 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193686 S 1 0 1 "" NA18507 nsv511693 1 58516235 58517532 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626333 S 1 0 1 "" 1 esv2231645 1 58516312 58517605 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4793742 S 1 0 1 "" NA18507 esv4344 1 58516462 58517525 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26785 S 1 0 1 Single Asian sample YH "" YH nsv820077 1 58516483 58517588 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419172 S 2 1 0 "" AK1 esv5903 1 58516487 58517408 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28344 S 1 0 1 "" SJK nsv159018 1 58516498 58517410 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177596 M 24 "" dgv40n67 1 58516499 58517399 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822742,nsv822764 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv25175 1 58516499 58517399 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11744 S 451 6 0 "" NA12414,NA18517,NA19108,NA19129,NA19190,NA19225 nsv821363 1 58516499 58517399 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420325 S 1 0 1 "" NA10851 esv1489418 1 58516501 58517414 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057198 S 2 0 1 "" HuRef nsv822753 1 58516576 58517130 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436338 S 31 0 1 "" NA18542 nsv511156 1 58516680 58517991 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626066 S 1 0 1 "" 1 nsv988 1 58545211 58556599 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9172 S 9 1 0 "" NA12156 esv269772 1 58550080 58550190 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494652,essv2500975,essv2513477,essv2498927 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18856,NA18907,NA19138 nsv818178 1 58568421 58575196 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415560 S 112 0 1 "" NA06993 nsv829948 1 58576269 58743968 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446684 S 95 1 0 OMA1 nsv999 1 58591602 58622358 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9989 S 9 1 0 "" NA18956 nsv517087 1 58606346 58606499 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653763,nssv686889 M 2026 0 2 "" esv5120 1 58832143 58832708 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27561 S 1 0 1 Single Asian sample YH "" YH esv1641689 1 58832222 58832547 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3861493 S 2 0 1 "" HuRef nsv1010 1 58845913 58879811 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2955 S 9 1 0 "" NA18555 nsv820181 1 58913802 58915189 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419252 S 2 0 1 MYSM1 AK1 dgv41n67 1 58927955 58928701 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822775,nsv822810,nsv822797,nsv822786 M 31 4 0 MYSM1 AK14,AK16,AK6,NA18951 dgv42n67 1 58927955 58929177 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822821,nsv822832,nsv822854,nsv822843 M 31 13 0 MYSM1 AK18,AK2,AK4,NA18526,NA18537,NA18542,NA18564,NA18566,NA18592,NA18949,NA18969,NA18997,NA18999 dgv43n67 1 58927955 58929392 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822865,nsv822876 M 31 8 0 MYSM1 AK20,AK8,NA18547,NA18552,NA18570,NA18942,NA18947,NA18972 nsv819698 1 58927985 58929843 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419344 S 2 1 0 MYSM1 AK1 nsv1021 1 58964095 58997765 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5590 S 9 1 0 "" NA19129 esv2572403 1 58965977 58969173 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264945 S 1 0 1 "" NA18507 esv1263464 1 58967575 58967635 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236398 S 2 0 1 "" HuRef esv1401011 1 58967853 58967853 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728293 S 2 1 0 "" HuRef esv268540 1 58977874 58978179 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536536,essv2523015,essv2543947,essv2556516,essv2576755,essv2535016,essv2554077,essv2555044,essv2537212,essv2528328,essv2557169,essv2536860,essv2569866,essv2553085,essv2540389,essv2534799,essv2532658,essv2567454,essv2542012,essv2534018,essv2555576,essv2543100,essv2577003,essv2526562,essv2524022,essv2560194,essv2537760,essv2533127,essv2563115 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA10847,NA11920,NA11931,NA11992,NA11994,NA12154,NA12249,NA12287,NA12872,NA12878,NA12891,NA18501,NA18517,NA18520,NA18542,NA18552,NA18561,NA18576,NA18582,NA18856,NA18916,NA18945,NA18965,NA18970,NA19114,NA19129,NA19190 esv272569 1 58977876 58978179 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581673,essv2582514 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv26947 1 59019839 59022982 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12569 S 451 0 1 JUN NA12156 nsv829959 1 59112918 59275673 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446795,nssv1446751,nssv1446762,nssv1446695,nssv1446784,nssv1446728,nssv1446717,nssv1446706,nssv1446740,nssv1446773 M 95 10 0 LOC100131060 esv2289458 1 59219286 59219715 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4624915 S 1 0 1 "" NA18507 esv5180 1 59219337 59219642 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27621 S 1 0 1 Single Asian sample YH "" YH esv1001193 1 59219370 59219517 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575113 S 3 0 1 "" HuRef esv1027809 1 59219390 59219538 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838410 S 2 0 1 "" HuRef nsv829970 1 59319690 59483749 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446806 S 95 1 0 HSD52 esv273226 1 59364025 59364130 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580696 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269223 1 59364037 59364373 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558022,essv2541033,essv2571665,essv2521036,essv2536624,essv2570524,essv2548382,essv2521774,essv2576587,essv2550819,essv2554230,essv2544349,essv2529169,essv2577930,essv2559757,essv2576297,essv2520101,essv2537267,essv2528253,essv2520988,essv2557270,essv2552538,essv2551802,essv2538956,essv2542941,essv2534751,essv2531027,essv2553341,essv2542184,essv2568987,essv2543602,essv2533915,essv2526932,essv2524075,essv2560329,essv2549725,essv2549066,essv2533223,essv2524978,essv2563493 M 157 40 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07357,NA10847,NA10851,NA11831,NA11840,NA11894,NA11920,NA12044,NA12045,NA12144,NA12154,NA12155,NA12287,NA12414,NA12749,NA12761,NA12776,NA12814,NA12815,NA12878,NA12891,NA18498,NA18499,NA18502,NA18504,NA18519,NA18550,NA18561,NA18573,NA18605,NA18856,NA18861,NA18870,NA18916,NA19005,NA19129,NA19190,NA19225 nsv871126 1 59442506 59529637 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557143 S 6533 1 0 "" MS22440 nsv1032 1 59483689 59528773 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9179 S 9 0 1 "" NA12156 nsv829982 1 59485436 59605380 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446817 S 95 0 1 FGGY esv271999 1 59644433 59644761 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565823,essv2541013,essv2542344,essv2571035,essv2523250,essv2577467,essv2552203,essv2547525,essv2564514,essv2553822,essv2576432,essv2530562,essv2537310,essv2528413,essv2546901,essv2540158,essv2551798,essv2569524,essv2562888,essv2523779,essv2564907,essv2534840,essv2561231,essv2539700,essv2549473,essv2566010,essv2532719,essv2567575,essv2541729,essv2570153,essv2553402,essv2535725,essv2527840,essv2573019,essv2566372,essv2573925,essv2556047,essv2573549,essv2543310,essv2524178,essv2545972,essv2574257,essv2551512,essv2536011,essv2548792,essv2557878 M 157 46 0 Samples from several populations that are part of the HapMap project. FGGY NA06986,NA07037,NA10851,NA11829,NA11831,NA11919,NA11993,NA12004,NA12043,NA12489,NA12717,NA12751,NA12763,NA12814,NA12873,NA12878,NA12891,NA12892,NA18489,NA18504,NA18508,NA18532,NA18537,NA18558,NA18561,NA18562,NA18563,NA18564,NA18572,NA18576,NA18582,NA18592,NA18593,NA18605,NA18608,NA18907,NA18942,NA18948,NA18951,NA18956,NA18964,NA18965,NA19129,NA19239,NA19240,NA19257 esv273066 1 59644433 59644761 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581958,essv2582544,essv2583196,essv2584639,essv2583561 M 7 5 0 Samples from several populations that are part of the HapMap project. FGGY NA12878,NA12891,NA12892,NA19239,NA19240 nsv870485 1 59698254 59759043 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521831 S 6533 0 1 FGGY SP52599 esv1430411 1 59729301 59729301 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651202 S 2 1 0 FGGY HuRef nsv461639 1 59747958 59843977 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538007 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FGGY HGDP01171 nsv523577 1 59765574 59843977 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699363 S 2026 0 1 FGGY nsv1043 1 59799705 59844580 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9187 S 9 0 1 FGGY NA12156 nsv871532 1 59808888 60047683 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557144 S 6533 1 0 FGGY,MIR4711 MS22440 esv2421406 1 59816510 59830867 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5048759,essv5065775,essv5130173,essv5055954,essv5070187,essv5150614,essv5049821,essv5132781,essv5036213,essv5055366,essv5121507,essv5103155,essv5045441,essv5118931,essv5100443,essv5072761,essv5020151,essv5059035,essv5065377,essv5091329,essv5099583,essv5038259,essv5113121,essv5004870,essv5080174,essv5017970,essv5034332,essv5154431,essv5134301,essv5041917,essv5098890,essv5136841,essv5002820,essv5078694,essv5039137,essv5132707,essv5027230,essv5108757,essv5045547,essv5060169,essv5134318,essv5129886,essv5011633,essv5031687,essv5009759,essv5028202,essv5109585,essv5149511,essv5063136,essv5112933,essv5113893,essv5056547,essv5105946,essv5103948,essv5038835,essv5124457,essv5117768,essv5120685,essv5020452,essv5078871,essv5158322,essv5158907,essv5088344,essv5053666,essv5118877,essv5091848,essv5060569,essv5086182,essv5066842,essv5039434,essv5090086,essv5036591,essv5022439,essv5074004,essv5099289,essv5157461,essv5003480,essv5049830,essv5044839,essv5122235,essv5009372,essv5115967,essv5088404,essv5040550,essv5028615,essv5096990,essv5019130,essv5066027,essv5094505,essv5137789,essv5087946,essv5061577,essv5060972,essv5067428,essv5035130,essv5109864,essv5027088,essv5045282,essv5129341,essv5051229,essv5155732,essv5017433,essv5099242,essv5119858,essv5114575,essv5040584,essv5053200,essv5097353,essv5085406,essv5092760,essv5144502,essv5036975,essv5087514,essv5135853,essv5147049,essv5120070,essv5021978,essv5103220,essv5103560,essv5021553,essv5047791,essv5023539,essv5068132,essv5130525,essv5087237,essv5031374,essv5043644,essv5028079,essv5103864,essv5060096,essv5065636,essv5139519,essv5115475,essv5032236,essv5056501,essv5041049,essv5049082,essv5096985,essv5084190,essv5155309,essv5153361,essv5159584,essv5054474,essv5126515,essv5082473,essv5057642,essv5041519,essv5063892,essv5024755,essv5005275,essv5033434,essv5103035,essv5079202,essv5044255,essv5119898,essv5015016,essv5058318,essv5054047,essv5054403,essv5048253,essv5071340 M 1184 0 161 FGGY NA11893,NA11994,NA12156,NA12763,NA12828,NA18500,NA18505,NA18520,NA18626,NA18853,NA18855,NA18859,NA18873,NA18909,NA18912,NA18914,NA18930,NA18933,NA18946,NA18955,NA18956,NA18965,NA18969,NA18978,NA19009,NA19038,NA19062,NA19063,NA19087,NA19096,NA19098,NA19102,NA19117,NA19119,NA19121,NA19123,NA19127,NA19130,NA19132,NA19138,NA19139,NA19172,NA19184,NA19193,NA19201,NA19210,NA19221,NA19222,NA19226,NA19238,NA19248,NA19318,NA19327,NA19347,NA19350,NA19371,NA19377,NA19379,NA19381,NA19382,NA19394,NA19403,NA19428,NA19430,NA19431,NA19455,NA19456,NA19470,NA19472,NA19649,NA19650,NA19708,NA19711,NA19714,NA19746,NA19762,NA19763,NA19782,NA19784,NA19788,NA19818,NA19828,NA19909,NA19919,NA20126,NA20127,NA20128,NA20287,NA20291,NA20292,NA20294,NA20295,NA20319,NA20344,NA20345,NA20347,NA20349,NA20350,NA20357,NA20359,NA20360,NA20527,NA20543,NA20769,NA20775,NA20786,NA20787,NA20849,NA20869,NA20872,NA20875,NA20877,NA20891,NA20902,NA20911,NA21091,NA21107,NA21115,NA21300,NA21303,NA21311,NA21313,NA21317,NA21333,NA21339,NA21352,NA21362,NA21371,NA21378,NA21379,NA21382,NA21400,NA21418,NA21421,NA21424,NA21425,NA21436,NA21441,NA21442,NA21451,NA21485,NA21491,NA21493,NA21494,NA21513,NA21514,NA21517,NA21520,NA21522,NA21574,NA21575,NA21580,NA21596,NA21599,NA21611,NA21613,NA21648,NA21683,NA21686,NA21784,NA21825 nsv441695 1 59816510 59830867 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FGGY nsv822887 1 59819298 59822406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425500,nssv1440813 M 31 0 2 FGGY AK4,NA18969 esv28159 1 59819319 59824956 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19156,esv10585,esv11834 M 451 0 16 FGGY NA11931,NA12004,NA12006,NA12044,NA12156,NA12828,NA12878,NA18502,NA18523,NA18907,NA18909,NA18916,NA19114,NA19147,NA19190,NA19225 esv994342 1 59821214 59822246 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586465 S 3 0 1 FGGY HuRef dgv44n67 1 59821250 59822406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822909,nsv822898 M 31 0 8 FGGY AK10,AK18,AK6,NA18526,NA18542,NA18564,NA18582,NA18949 esv1008172 1 59821250 59824986 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586958 S 3 0 1 FGGY HuRef nsv822921 1 59821338 59824986 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423118 S 31 0 1 FGGY NA18999 nsv819226 1 59878705 59879763 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419163 S 2 1 0 FGGY AK1 nsv820893 1 59878725 59879912 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420336 S 1 0 1 FGGY NA10851 esv22806 1 59878829 59879691 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18842 S 451 32 0 FGGY NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18858,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 dgv45n67 1 59878829 59879912 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822943,nsv822932 M 31 22 0 FGGY AK12,AK14,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18999 nsv829993 1 59901614 59924564 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446839,nssv1446851,nssv1446828,nssv1446862 M 95 0 4 FGGY nsv819901 1 60081647 60085454 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419579 S 2 0 1 HOOK1 AK1 esv259663 1 60236343 60236772 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394075,essv2394395 M 6 0 0 Samples from several populations that are part of the HapMap project. C1orf87 NA19239,NA19240 esv259709 1 60236348 60236784 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400018,essv2398782,essv2399114,essv2396780,essv2396658,essv2398260,essv2397615,essv2395620,essv2396134,essv2395693,essv2394930,essv2400940,essv2400361,essv2400862,essv2397424,essv2399588,essv2397882,essv2395540,essv2398930,essv2399927,essv2397947,essv2400678,essv2399989,essv2396180,essv2395893,essv2398169,essv2397101,essv2394528,essv2395830,essv2394547,essv2397377,essv2398752,essv2401028,essv2399785,essv2397041,essv2400531 M 144 0 0 Samples from several populations that are part of the HapMap project. C1orf87 NA07051,NA07347,NA11920,NA12249,NA12414,NA12763,NA18489,NA18501,NA18523,NA18532,NA18545,NA18547,NA18555,NA18564,NA18566,NA18570,NA18577,NA18593,NA18603,NA18856,NA18907,NA18912,NA18940,NA18944,NA18945,NA18949,NA18951,NA18959,NA18961,NA18965,NA18980,NA19005,NA19099,NA19129,NA19239,NA19240 esv271154 1 60243158 60243391 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511048,essv2511409,essv2493431,essv2493348,essv2505033,essv2497804,essv2504572,essv2511292,essv2512743,essv2496115,essv2507545,essv2511589,essv2493024,essv2497405,essv2503713,essv2495990,essv2503925,essv2495054,essv2504367 M 157 19 0 Samples from several populations that are part of the HapMap project. C1orf87 NA07037,NA07051,NA07347,NA11831,NA11920,NA12763,NA12776,NA12828,NA18555,NA18563,NA18570,NA18577,NA18603,NA18638,NA18940,NA18951,NA18959,NA18960,NA18961 esv1587281 1 60303273 60303273 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3940777 S 2 1 0 C1orf87 HuRef esv1751925 1 60324201 60324201 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590402 S 2 1 0 "" HuRef nsv520494 1 60383617 60401034 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694080 S 2026 0 1 "" nsv524844 1 60442564 60450036 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700846 S 2026 0 1 "" nsv524288 1 60450036 60454461 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700188 S 2026 0 1 "" esv269334 1 60487353 60487603 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516481 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv269212 1 60488263 60488348 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517934 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv506930 1 60592516 60598516 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617530 S 4 1 0 "" CHM nsv871565 1 60597570 60734756 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576111 S 6533 0 1 "" IS33878 nsv1054 1 60777757 60811193 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9195 S 9 1 0 "" NA12156 nsv871716 1 60809603 60847964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514242 S 6533 0 1 "" SP55986 esv271688 1 60917156 60917480 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557365,essv2557221,essv2561409,essv2549505,essv2570284,essv2531630,essv2575600,essv2560776,essv2530302 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18523,NA18564,NA18593,NA18961,NA19099,NA19116,NA19141 esv2113114 1 60970754 60971180 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4727283 S 1 0 1 "" NA18507 esv259442 1 61060584 61061033 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394197,essv2393954,essv2393825,essv2393662,essv2394006,essv2394299 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259854 1 61060598 61061050 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400224,essv2400038,essv2396074,essv2394772,essv2398608,essv2399062,essv2395850,essv2396730,essv2400314,essv2398465,essv2395284,essv2396553,essv2400928,essv2398887,essv2395799,essv2398110,essv2400270,essv2399956,essv2396673,essv2398650,essv2395390,essv2396678,essv2399179,essv2397271,essv2401095,essv2396931,essv2394717,essv2395256,essv2395630,essv2397665,essv2399906,essv2396594,essv2399259,essv2400650,essv2394975,essv2398560,essv2396485,essv2399332,essv2396109,essv2396066,essv2395108,essv2396318,essv2395492,essv2395542,essv2395737,essv2399422,essv2400101,essv2394657,essv2398429,essv2397944,essv2398233,essv2394418,essv2395473,essv2398336,essv2400972,essv2399288,essv2395682,essv2399763,essv2396386,essv2398042,essv2398116,essv2398693,essv2397215,essv2395983,essv2397059,essv2400509 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11993,NA11995,NA12004,NA12144,NA12154,NA12156,NA12414,NA12489,NA12749,NA12750,NA12776,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18522,NA18523,NA18537,NA18550,NA18558,NA18563,NA18593,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18943,NA18948,NA19093,NA19099,NA19102,NA19116,NA19129,NA19138,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240 nsv521131 1 61109117 61109878 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697805 S 2026 0 1 "" esv25296 1 61320290 61322326 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19873 S 451 0 1 NFIA NA12156 nsv1065 1 61420119 61447271 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5607 S 9 1 0 NFIA NA19129 nsv1077 1 61570465 61604305 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2961 S 9 1 0 NFIA NA18555 nsv512741 1 61631222 61631624 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625368 S 1 1 0 NFIA 1 esv275289 1 61633690 61634339 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585133,essv2585952 M 1250 1 1 NFIA nsv161106 1 61732093 61735957 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179684 M 24 "" esv269032 1 61794180 61794265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515336 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 nsv1088 1 61826154 61859016 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5608 S 9 1 0 "" NA19129 nsv820220 1 61853831 61856325 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419438 S 2 1 0 "" AK1 esv2508963 1 61854956 61856467 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332870 S 1 0 1 "" NA18507 esv2291987 1 61855276 61856476 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876772 S 1 0 1 "" NA18507 nsv822954 1 61855369 61856416 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425502,nssv1440815,nssv1431076,nssv1421455,nssv1430346,nssv1423121,nssv1432152,nssv1424741,nssv1437941,nssv1437226,nssv1428027,nssv1424014 M 31 0 12 "" AK10,AK16,AK18,AK2,AK4,NA18592,NA18949,NA18951,NA18969,NA18972,NA18997,NA18999 nsv820380 1 61855369 61856456 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420347 S 1 0 1 "" NA10851 esv24970 1 61855399 61856327 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10947 S 451 11 11 "" NA07045,NA11894,NA11931,NA11995,NA12044,NA12156,NA12287,NA12414,NA12749,NA12878,NA15510,NA18505,NA18517,NA18523,NA18858,NA18907,NA18909,NA19099,NA19108,NA19147,NA19190,NA19225 nsv160205 1 61855446 61856289 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178783 M 24 "" esv6698 1 61855455 61856287 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29139 S 1 0 1 "" SJK dgv46n67 1 61855664 61856416 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822965,nsv822976 M 31 6 0 "" NA18526,NA18537,NA18547,NA18570,NA18582,NA18947 nsv508226 1 61863681 61913192 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620129 S 4 0 1 "" NA15510 nsv819394 1 61884829 61892114 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419819 S 2 0 1 "" AK1 esv21802 1 61885959 61892332 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14181 S 451 0 7 "" NA06985,NA07037,NA07045,NA12287,NA12749,NA12776,NA15510 nsv435721 1 61886002 61892933 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465984 S 2 0 1 "" NA15510 nsv822987 1 61886152 61892084 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440816,nssv1437942,nssv1433424,nssv1423122,nssv1431814 M 31 0 5 "" AK20,NA18526,NA18951,NA18969,NA18999 esv33569 1 61886378 61891818 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101554,essv98900,essv93876,essv100819,essv101009,essv95067,essv98249,essv94787,essv101360,essv94333,essv96959,essv97907,essv95593,essv95336,essv101746,essv95902,essv94548,essv99054,essv92690,essv96119,essv98576,essv93538,essv93198,essv99713,essv94975,essv99183,essv98465,essv94265 M 51 25 3 "" 21603,21606,21634,21656,21693,21721,21772,21791,21805,21808,21817,21837,21841,21872,21909,21911,21932,21938,21944,22007,22085,22128,22170,22217,22231,22275,22352,22394 esv2421667 1 61886594 61890775 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5085969,essv5088655,essv5110273,essv5112357,essv5090988,essv5151519,essv5094063,essv5109138,essv5068019,essv5099899,essv5027097,essv5123637,essv5078263,essv5083291,essv5010006,essv5131921,essv5100466,essv5016298,essv5119198,essv5066781,essv5078832,essv5142976,essv5144044,essv5009163,essv5108810,essv5050562,essv5078022,essv5019096,essv5138839,essv5093059,essv5016036,essv5158107,essv5021820,essv5003433,essv5125797,essv5017071,essv5071789,essv5055015,essv5129524,essv5106569,essv5052826,essv5102908,essv5097802,essv5122117,essv5119789,essv5023824,essv5060236,essv5063782,essv5118607,essv5023714,essv5103729,essv5150837,essv5109369,essv5007925,essv5022935,essv5124133,essv5086013,essv5123815,essv5155033,essv5043568,essv5043061,essv5155137,essv5144212,essv5159102,essv5024247,essv5087987,essv5082239,essv5034973,essv5130037,essv5150401,essv5039537,essv5023093,essv5031068,essv5056003,essv5127413,essv5138800,essv5104116,essv5122332,essv5132182,essv5127853,essv5126290,essv5011213,essv5126892,essv5091099,essv5017406,essv5008384,essv5012109,essv5071948,essv5140526,essv5066567,essv5148497,essv5042132,essv5145849,essv5133475,essv5119782,essv5050600,essv5088599,essv5087068,essv5022770,essv5031711,essv5125433,essv5131470,essv5086374,essv5075873,essv5088616,essv5096340,essv5116977,essv5149275,essv5004922,essv5008922,essv5034626,essv5119177,essv5076461,essv5079001,essv5051423,essv5103650,essv5145369,essv5081030,essv5007237,essv5064209,essv5025655,essv5086465,essv5082899,essv5124011,essv5136234,essv5081134,essv5091620,essv5059389,essv5009828,essv5108999,essv5012759,essv5048142,essv5010828,essv5086898,essv5118646,essv5150746,essv5079668,essv5089704,essv5099818,essv5084784,essv5103847,essv5132609,essv5089447,essv5065809,essv5109607,essv5088049,essv5110136,essv5064709,essv5116171,essv5145155,essv5052083,essv5074760,essv5082131,essv5092199,essv5038016,essv5082791,essv5061602,essv5160396,essv5051859,essv5059931,essv5043603,essv5033563,essv5155354,essv5144058,essv5073550,essv5119691,essv5062869,essv5010956,essv5019227,essv5017349,essv5059742,essv5153182,essv5059248,essv5095881,essv5107236,essv5135631,essv5055577,essv5035186,essv5049209,essv5139230,essv5065586,essv5140510,essv5018079,essv5008935,essv5065600,essv5017594,essv5130584,essv5113747,essv5028375,essv5139433,essv5135571,essv5095195,essv5018311,essv5033954,essv5156186,essv5098488,essv5133176,essv5102342,essv5044362,essv5007489,essv5158709,essv5133004,essv5053947,essv5108005,essv5009624,essv5020640,essv5035842 M 1184 0 207 "" NA06985,NA06991,NA06993,NA06994,NA06995,NA07029,NA07037,NA07045,NA07345,NA07347,NA07348,NA07349,NA07357,NA10835,NA10837,NA10838,NA10855,NA10856,NA10865,NA11829,NA11830,NA11831,NA11891,NA12003,NA12155,NA12249,NA12272,NA12275,NA12286,NA12287,NA12335,NA12341,NA12383,NA12399,NA12718,NA12739,NA12749,NA12750,NA12751,NA12752,NA12760,NA12776,NA12801,NA12802,NA12813,NA12815,NA12832,NA12842,NA12865,NA12875,NA12877,NA12889,NA17965,NA17966,NA17987,NA17988,NA17996,NA18102,NA18112,NA18114,NA18132,NA18143,NA18147,NA18148,NA18149,NA18151,NA18152,NA18153,NA18154,NA18158,NA18162,NA18526,NA18529,NA18536,NA18546,NA18550,NA18558,NA18559,NA18593,NA18595,NA18599,NA18602,NA18603,NA18609,NA18610,NA18613,NA18614,NA18619,NA18627,NA18635,NA18637,NA18639,NA18641,NA18642,NA18643,NA18674,NA18682,NA18740,NA18747,NA18944,NA18948,NA18951,NA18959,NA18960,NA18961,NA18962,NA18965,NA18966,NA18967,NA18969,NA18971,NA18987,NA18999,NA19001,NA19005,NA19009,NA19058,NA19068,NA19078,NA19079,NA19081,NA19087,NA19248,NA19650,NA19652,NA19656,NA19661,NA19663,NA19664,NA19665,NA19670,NA19671,NA19676,NA19681,NA19684,NA19685,NA19686,NA19704,NA19720,NA19721,NA19747,NA19748,NA19749,NA19750,NA19755,NA19757,NA19777,NA19778,NA19779,NA19781,NA19835,NA19982,NA20292,NA20297,NA20302,NA20317,NA20319,NA20348,NA20502,NA20508,NA20528,NA20535,NA20543,NA20582,NA20588,NA20753,NA20771,NA20773,NA20774,NA20786,NA20796,NA20797,NA20799,NA20800,NA20802,NA20815,NA20849,NA20861,NA20871,NA20872,NA20875,NA20884,NA20891,NA20906,NA20907,NA21091,NA21099,NA21102,NA21115,NA21137,NA21143,NA21301,NA21317,NA21344,NA21366,NA21385,NA21399,NA21400,NA21401,NA21489,NA21490,NA21526,NA21527,NA21580,NA21582,NA21631,NA21722 nsv442877 1 61886594 61890775 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv513987 1 61887204 61890756 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628180 S 1414 0 1 "" nsv830004 1 62015532 62154816 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446873 S 95 1 0 INADL nsv1099 1 62047905 62088531 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9211 S 9 0 1 INADL NA12156 dgv6n21 1 62052182 62290535 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522020,nsv518627 M 2026 0 2 INADL esv1631480 1 62109673 62109673 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051518 S 2 1 0 INADL HuRef esv2549769 1 62162356 62164182 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305658 S 1 0 1 INADL NA18507 esv2323512 1 62162970 62163733 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506834 S 1 0 1 INADL NA18507 esv5270 1 62163138 62163616 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27711 S 1 0 1 Single Asian sample YH INADL YH nsv159038 1 62163175 62163523 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177616 M 24 INADL esv2472996 1 62163181 62163529 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202544 S 1 0 1 INADL NA18507 esv6133 1 62163188 62163533 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28574 S 1 0 1 INADL SJK esv1003515 1 62163188 62163536 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579227 S 3 0 1 INADL HuRef esv1040191 1 62163190 62163539 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185967 S 2 0 1 INADL HuRef nsv1110 1 62168311 62227023 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9296 S 9 0 1 INADL NA18517 esv29630 1 62190379 62190889 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18798 S 451 0 1 INADL NA18858 nsv437210 1 62192315 62220833 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467091 S 60 0 1 Samples from several populations that are part of the HapMap project. INADL NA19205 nsv10217 1 62206492 62225792 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12447,nssv16110,nssv16424 M 31 0 3 Samples from several populations that are part of the HapMap project. INADL NA18517,NA19132,NA19221 nsv517696 1 62209517 62214376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675663,nssv665354,nssv673772,nssv664719,nssv664968,nssv671365,nssv676169,nssv661867,nssv654435,nssv660368,nssv662958,nssv694621,nssv665406,nssv681293,nssv654241,nssv689496,nssv682090,nssv666544,nssv685685 M 2026 0 19 INADL nsv437211 1 62209517 62220833 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467092 S 60 0 1 Samples from several populations that are part of the HapMap project. INADL NA19221 esv26149 1 62210387 62224964 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10531 S 451 0 2 INADL NA18517,NA19108 nsv818189 1 62210460 62214376 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418426 S 112 0 1 INADL NA19192 esv2421746 1 62210460 62223123 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5041711,essv5069978,essv5077911,essv5035069,essv5093878,essv5071831,essv5119967,essv5152829,essv5123089,essv5111807,essv5109065,essv5050581,essv5130823,essv5159581,essv5044846 M 1184 0 15 INADL NA18517,NA18861,NA19108,NA19118,NA19130,NA19132,NA19192,NA19203,NA19221,NA19222,NA19256,NA19258,NA19834,NA21403,NA21404 nsv438388 1 62214376 62215834 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470851,nssv470962,nssv470991,nssv470740,nssv470980,nssv471002 M 269 0 6 Samples from several populations that are part of the HapMap project. INADL NA19098,NA19100,NA19203,NA19205,NA19221,NA19222 esv268426 1 62346544 62346886 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500400,essv2507882,essv2507659,essv2508700,essv2512878,essv2507568,essv2503687,essv2495120 M 157 8 0 Samples from several populations that are part of the HapMap project. INADL NA18537,NA18564,NA18576,NA18592,NA18609,NA18638,NA18960,NA18964 esv2514338 1 62375345 62376262 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269117 S 1 1 0 INADL NA18507 esv1091714 1 62375907 62375907 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593286 S 2 1 0 INADL HuRef nsv822998 1 62386289 62388868 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422375 S 31 0 1 INADL NA18552 nsv511694 1 62395128 62397132 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626334 S 1 0 1 INADL 1 esv997498 1 62395416 62396751 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587084 S 3 1 0 INADL HuRef nsv870842 1 62416706 62451790 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571612 S 6533 1 0 L1TD1 IS32737 nsv819557 1 62425508 62430564 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419677 S 2 1 0 "" AK1 dgv47n67 1 62427253 62429802 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823009,nsv823020 M 31 0 16 "" AK16,AK20,AK4,AK8,NA18526,NA18542,NA18566,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18973,NA18997,NA18999 nsv821202 1 62427253 62429802 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420358 S 1 0 1 "" NA10851 esv24847 1 62427437 62429802 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15807 S 451 31 0 "" NA06985,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12287,NA12414,NA12749,NA12828,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2457868 1 62516577 62516636 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342534 S 1 0 1 KANK4 NA18507 nsv520333 1 62539115 62542475 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672010,nssv662976,nssv676248 M 2026 0 3 KANK4 nsv871893 1 62540541 62591655 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542220 S 6533 1 0 KANK4 MS15714 nsv871250 1 62542475 62572039 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545174 S 6533 1 0 KANK4 MS16707 nsv525191 1 62546291 62577307 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701270 S 2026 0 1 KANK4 nsv870559 1 62829724 62886307 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517709 S 6533 0 1 ANGPTL3,DOCK7 SP57367 esv2553332 1 62923799 62925525 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273753 S 1 0 1 DOCK7 NA18507 esv2408644 1 62924218 62924957 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603803 S 1 0 1 DOCK7 NA18507 esv5210 1 62924365 62924892 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27651 S 1 0 1 Single Asian sample YH DOCK7 YH esv1006212 1 62924415 62924753 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581424 S 3 0 1 DOCK7 HuRef esv1250656 1 62924416 62924755 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942870 S 2 0 1 DOCK7 HuRef esv5823 1 62924420 62924744 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28264 S 1 0 1 DOCK7 SJK nsv159028 1 62924424 62924762 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177606 M 24 DOCK7 nsv830015 1 63033731 63227884 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446895,nssv1446884 M 95 2 0 ATG4C nsv1121 1 63146806 63181325 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4256 S 9 1 0 "" NA12878 nsv522407 1 63165253 63168704 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695188 S 2026 1 0 "" nsv823032 1 63205441 63205978 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437944,nssv1436343 M 31 0 2 "" NA18542,NA18951 nsv461661 1 63214349 63381975 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538022 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00901 nsv160360 1 63234539 63234539 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178938 M 24 "" nsv159348 1 63254630 63258935 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177926 M 24 "" dgv48n67 1 63259532 63260287 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823054,nsv823043 M 31 2 0 "" AK10,NA18999 nsv160331 1 63284269 63284269 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178909 M 24 "" esv24886 1 63387241 63388521 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13715 S 451 0 3 "" NA19108,NA19190,NA19225 nsv823065 1 63410691 63411202 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426394 S 31 1 0 LINC00466 AK6 esv1006508 1 63476823 63481657 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565518 S 3 0 1 LINC00466 HuRef nsv511695 1 63477876 63480751 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626335 S 1 0 1 LINC00466 1 esv1000281 1 63477948 63480737 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576405 S 3 0 1 LINC00466 HuRef esv1348268 1 63477954 63480744 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858650 S 2 0 1 LINC00466 HuRef esv5933 1 63477956 63480735 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28374 S 1 0 1 LINC00466 SJK esv21673 1 63507021 63508212 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17225 S 451 0 1 LINC00466 NA18858 nsv461672 1 63526324 63775444 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538033 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALG6,EFCAB7,FOXD3,ITGB3BP,LINC00466 HGDP00935 nsv470714 1 63540185 63775444 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547732 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALG6,EFCAB7,FOXD3,ITGB3BP,LINC00466 HGDP00935 nsv1132 1 63606963 63625359 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6639 S 9 0 1 ALG6 NA12156 nsv871017 1 63617806 63759045 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514498 S 6533 0 1 ALG6,ITGB3BP SP56007 esv1543308 1 63638528 63638584 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257015 S 2 0 1 ALG6 HuRef nsv871689 1 63681568 63787684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554578,nssv1565450 M 6533 0 2 DLEU2L,EFCAB7,ITGB3BP IS30432,MS20872 nsv870480 1 63681568 63842200 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567921 S 6533 0 1 DLEU2L,EFCAB7,ITGB3BP,PGM1 IS31179 nsv830026 1 63715250 63733275 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446917,nssv1446928,nssv1446939,nssv1446906 M 95 1 3 ITGB3BP nsv510935 1 63757798 63778079 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621650 S 4 0 0 EFCAB7,ITGB3BP NA15510 nsv823076 1 63777628 63778123 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425504 S 31 1 0 EFCAB7 AK4 nsv1143 1 63809289 63839813 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5623 S 9 1 0 EFCAB7,PGM1 NA19129 esv2499233 1 63908510 63911345 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369634 S 1 0 1 "" NA18507 nsv461683 1 63938133 63965785 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538043 S 1557 0 1 "" NINDS_172 esv274012 1 63959773 63959858 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581218 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv8740 1 64026118 64026214 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31181 S 1 1 0 ROR1 SJK nsv830037 1 64117961 64333956 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446950 S 95 1 0 ROR1 nsv871828 1 64134548 64275183 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533303 S 6533 1 0 ROR1 MS11084 nsv1154 1 64166915 64201313 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9224 S 9 0 1 ROR1 NA12156 nsv823087 1 64219141 64220142 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431077 S 31 0 1 ROR1 AK18 esv273965 1 64264336 64264664 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580597,essv2579816 M 7 2 0 Samples from several populations that are part of the HapMap project. ROR1 NA19238,NA19240 esv269636 1 64284289 64284653 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509559 S 157 1 0 Samples from several populations that are part of the HapMap project. ROR1 NA19129 esv993189 1 64404029 64417025 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564882 S 3 0 1 ROR1 HuRef nsv871805 1 64406751 64468665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564842 S 6533 0 1 ROR1,UBE2U IS30311 esv23216 1 64435102 64437483 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20526 S 451 0 1 "" NA19108 dgv55e1 1 64449736 64548984 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2543,esv492 M 271 0 0 UBE2U NA19003 esv1385597 1 64477405 64477463 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007424 S 2 0 1 UBE2U HuRef nsv871531 1 64603980 64684881 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515645 S 6533 0 1 "" SP56234 nsv830048 1 64605794 64783509 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446962 S 95 1 0 CACHD1 esv23183 1 64612208 64624695 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11146 S 451 0 3 "" NA18907,NA19099,NA19114 nsv442886 1 64615315 64624133 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv513988 1 64616688 64621340 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628291 S 1414 0 1 "" esv997649 1 64621804 64623097 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564814 S 3 1 0 "" HuRef esv1055074 1 64653742 64653918 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3740900 S 2 0 1 "" HuRef esv268167 1 64730627 64730976 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516808,essv2514152,essv2518778,essv2514864,essv2515421,essv2514929,essv2517956,essv2515973,essv2514368,essv2517823,essv2516179,essv2516900,essv2517318,essv2513837,essv2515202,essv2518281 M 157 16 0 Samples from several populations that are part of the HapMap project. CACHD1 NA11881,NA12043,NA12045,NA12234,NA12249,NA12812,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970,NA19143,NA19238,NA19240 esv273854 1 64730636 64730973 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581847,essv2582568,essv2583113,essv2584218,essv2583858 M 7 5 0 Samples from several populations that are part of the HapMap project. CACHD1 NA12878,NA12891,NA12892,NA19238,NA19240 esv1280177 1 64730666 64730666 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4249041 S 2 1 0 CACHD1 HuRef esv1980143 1 64740698 64741165 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4886636 S 1 0 1 CACHD1 NA18507 nsv522029 1 64776057 64776366 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694120 S 2026 0 1 CACHD1 nsv508237 1 64895292 64917221 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620130 S 4 0 1 CACHD1 NA15510 nsv508249 1 64933551 64936666 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622764 S 4 0 1 "" NA18994 nsv159344 1 64960097 64965173 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177922 M 24 "" esv2631331 1 64972586 64973977 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371991 S 1 0 1 "" NA18507 esv1956526 1 64972806 64973231 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672956 S 1 0 1 "" NA18507 nsv158935 1 64972920 64973016 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177513 M 24 "" esv1157098 1 64973022 64973119 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737271 S 2 0 1 "" HuRef nsv525227 1 65081975 65140630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701316 S 2026 0 1 JAK1 nsv823098 1 65091997 65092746 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424743 S 31 0 1 JAK1 AK2 nsv830059 1 65156318 65312749 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446973 S 95 0 1 JAK1,MIR101-1,MIR3671 esv275588 1 65200182 65207639 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586106 S 1250 0 1 JAK1 esv2421783 1 65201803 65202385 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5135532,essv5063319,essv5160284,essv5156482,essv5010002,essv5029641,essv5066518,essv5151965,essv5143405,essv5006625,essv5140237,essv5020999,essv5156385,essv5086562,essv5065574,essv5041361,essv5139096,essv5125418,essv5036262,essv5038937,essv5063334,essv5069662,essv5075599,essv5106478,essv5145137,essv5094736,essv5088555,essv5037018,essv5018792,essv5109181,essv5030424,essv5083707,essv5009941,essv5085543,essv5095205,essv5146149,essv5142947,essv5116557,essv5138245,essv5058472,essv5155544,essv5058604,essv5058399,essv5055615,essv5160218,essv5016734,essv5137564,essv5093865,essv5087965,essv5102813,essv5013325,essv5149712,essv5066651,essv5136823,essv5138124,essv5032463,essv5057689,essv5090879,essv5131604,essv5090252,essv5008836,essv5092611,essv5160003,essv5103290,essv5019376,essv5073697,essv5043503,essv5030749,essv5156947,essv5004282,essv5072144,essv5087078,essv5131537,essv5149570,essv5009899,essv5049641,essv5143701,essv5137087,essv5052164,essv5160020,essv5101361,essv5028980,essv5079483,essv5086612,essv5029527,essv5129412,essv5152768,essv5153391,essv5152180,essv5144485,essv5016022,essv5035629,essv5054997,essv5152928,essv5033536 M 1184 0 95 JAK1 NA11829,NA17965,NA17966,NA17974,NA17986,NA17987,NA17990,NA17993,NA17996,NA18102,NA18106,NA18109,NA18112,NA18117,NA18118,NA18124,NA18132,NA18134,NA18135,NA18138,NA18139,NA18144,NA18146,NA18147,NA18149,NA18151,NA18156,NA18166,NA18529,NA18548,NA18550,NA18557,NA18558,NA18559,NA18561,NA18564,NA18566,NA18572,NA18577,NA18579,NA18594,NA18609,NA18610,NA18614,NA18615,NA18627,NA18628,NA18631,NA18642,NA18643,NA18645,NA18682,NA18702,NA18745,NA18942,NA18943,NA18945,NA18947,NA18948,NA18959,NA18960,NA18965,NA18966,NA18970,NA18990,NA18991,NA18995,NA18999,NA19001,NA19002,NA19007,NA19010,NA19066,NA19067,NA19068,NA19085,NA19652,NA19657,NA19708,NA20771,NA20805,NA20845,NA20849,NA20853,NA20858,NA20859,NA20879,NA20885,NA20894,NA20909,NA21105,NA21143,NA21436,NA21524,NA21525 nsv1165 1 65235489 65279954 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4638 S 9 0 1 "" NA19129 nsv522027 1 65398340 65406085 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694797 S 2026 0 1 AK4 nsv871049 1 65450521 65481422 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523807 S 6533 1 0 AK4 SP54217 esv2446769 1 65454206 65455820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287123 S 1 0 1 AK4 NA18507 esv2230166 1 65454637 65455374 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671957 S 1 0 1 AK4 NA18507 nsv830070 1 65572509 65755242 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446984 S 95 1 0 DNAJC6,LEPR,LEPROT nsv528808 1 65624347 65751505 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705482 S 2026 1 0 DNAJC6,LEPR,LEPROT nsv830081 1 65658668 65835388 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446995 S 95 1 0 LEPR,LEPROT esv2521430 1 65681660 65683129 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360102 S 1 0 1 LEPR NA18507 esv2015767 1 65682018 65682685 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4727227 S 1 0 1 LEPR NA18507 esv4385 1 65682192 65682549 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26826 S 1 0 1 Single Asian sample YH LEPR YH esv2630441 1 65682225 65682494 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309866 S 1 0 1 LEPR NA18507 nsv160318 1 65682227 65682496 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178896 M 24 LEPR nsv1176 1 65685290 65730158 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9232 S 9 0 1 LEPR NA12156 nsv870752 1 65686295 65802909 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520652,nssv1539993 M 6533 2 0 LEPR MS14639,SP51197 nsv823109 1 65695844 65796908 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431078 S 31 1 0 LEPR AK18 nsv870656 1 65697937 65764728 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512920 S 6533 1 0 LEPR SP55652 nsv461705 1 65708082 65772622 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538062 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LEPR HGDP00972 dgv232n71 1 65708082 65795507 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871938,nsv870884 M 6533 2 0 LEPR SP52438,SP52506 esv2615796 1 65710713 65710886 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352107 S 1 0 1 LEPR NA18507 nsv508260 1 65755900 65774886 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620131 S 4 0 1 LEPR NA15510 nsv1188 1 65769214 65820514 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9242,nssv4273 M 9 0 2 LEPR NA12156,NA12878 nsv436459 1 65796348 65803176 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465995 S 2 0 1 Samples from several populations that are part of the HapMap project. LEPR NA18505 nsv498671 1 65796761 65802871 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585383 S 9 0 1 LEPR esv2580170 1 65813019 65817261 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341924 S 1 0 1 LEPR NA18507 esv1978491 1 65813346 65816686 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536103 S 1 0 1 LEPR NA18507 esv28812 1 65813514 65816341 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11383 S 451 0 4 LEPR NA18508,NA19099,NA19129,NA19225 esv2464074 1 65813781 65815781 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382418 S 1 0 1 LEPR NA18507 esv2572647 1 65827186 65828213 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386875 S 1 1 0 LEPR NA18507 esv269871 1 65828494 65828827 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557797,essv2575913,essv2540874,essv2546259,essv2521203,essv2525892,essv2542459,essv2536661,essv2523080,essv2544046,essv2570784,essv2568175,essv2545399,essv2577558,essv2548634,essv2521786,essv2576825,essv2525398,essv2550448,essv2535128,essv2553956,essv2520375,essv2547235,essv2529078,essv2558330,essv2559572,essv2564279,essv2537233,essv2528464,essv2547102,essv2539992,essv2520941,essv2557036,essv2552322,essv2551903,essv2532192,essv2562787,essv2569385,essv2578608,essv2569714,essv2561668,essv2544671,essv2563058,essv2523711,essv2553061,essv2541434,essv2538337,essv2542731,essv2524311,essv2564886,essv2534859,essv2561247,essv2539707,essv2549372,essv2519636,essv2559981,essv2566311,essv2531183,essv2532498,essv2568024,essv2529048,essv2567628,essv2541834,essv2570329,essv2563794,essv2553387,essv2535601,essv2572413,essv2559298,essv2566740,essv2551103,essv2543539,essv2556448,essv2539321,essv2533856,essv2578454,essv2555694,essv2567167,essv2566349,essv2529905,essv2573870,essv2556118,essv2522553,essv2531373,essv2573508,essv2543036,essv2577187,essv2529839,essv2575627,essv2574998,essv2538654,essv2560771,essv2523981,essv2560797,essv2574774,essv2568740,essv2549625,essv2571252,essv2545932,essv2574159,essv2551454,essv2538076,essv2547648,essv2563150 M 157 104 0 Samples from several populations that are part of the HapMap project. LEPR NA07000,NA07347,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12043,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12716,NA12717,NA12749,NA12750,NA12776,NA12828,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18520,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18870,NA18871,NA18912,NA18916,NA18940,NA18945,NA18947,NA18948,NA18949,NA18951,NA18956,NA18960,NA18961,NA18964,NA18965,NA18970,NA19093,NA19099,NA19102,NA19108,NA19116,NA19129,NA19137,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 esv274382 1 65828494 65828827 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581765,essv2582758,essv2583241,essv2584283,essv2584805,essv2583802 M 7 6 0 Samples from several populations that are part of the HapMap project. LEPR NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1474810 1 65828529 65828529 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3913332 S 2 1 0 LEPR HuRef esv2079710 1 65850691 65851118 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846369 S 1 0 1 LEPR NA18507 esv5181 1 65851669 65852098 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27622 S 1 0 1 Single Asian sample YH LEPR YH esv9112 1 65851744 65852030 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31553 S 1 0 1 LEPR SJK nsv819065 1 65872786 65873068 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419647 S 2 0 1 LEPR AK1 esv2361197 1 65908106 65908827 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885197 S 1 0 1 "" NA18507 esv6029 1 65908299 65908630 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28470 S 1 0 1 "" SJK dgv233n71 1 65934049 65971306 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870649,nsv871245 M 6533 0 3 "" IS36320,IS39438,IS40347 nsv437212 1 65942267 65957991 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467093 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19142 nsv516036 1 65942950 65944594 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687281,nssv665855,nssv660026,nssv689389,nssv670460,nssv671693 M 2026 0 6 "" nsv159449 1 65946974 65950272 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178027 M 24 "" dgv234n71 1 65967827 66006727 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871170,nsv870675 M 6533 2 0 "" IS36320,IS39438 dgv3n17 1 65994344 66044724 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437214,nsv437215 M 60 0 2 PDE4B NA18860,NA19173 nsv871275 1 65994969 66026187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592530 S 6533 0 1 "" IS39243 nsv871881 1 65996109 66013434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569240,nssv1576198,nssv1568806 M 6533 0 3 "" IS31346,IS31554,IS33948 nsv437216 1 66030004 66044724 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467097 S 60 0 1 Samples from several populations that are part of the HapMap project. PDE4B NA18857 esv2584680 1 66035819 66037451 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351160 S 1 0 1 PDE4B NA18507 esv1957663 1 66036414 66036991 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512901 S 1 0 1 PDE4B NA18507 esv4724 1 66036433 66037080 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27165 S 1 0 1 Single Asian sample YH PDE4B YH esv2449251 1 66036498 66036830 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279125 S 1 0 1 PDE4B NA18507 nsv160460 1 66036498 66036830 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179038 M 24 PDE4B nsv870457 1 66081313 66111636 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514388 S 6533 0 1 PDE4B SP56004 esv270349 1 66283921 66284322 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493307,essv2505851 M 157 2 0 Samples from several populations that are part of the HapMap project. PDE4B NA18504,NA18861 esv25256 1 66297831 66300355 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16110 S 451 0 1 PDE4B NA15510 esv271003 1 66334851 66334936 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513763 S 157 1 0 Samples from several populations that are part of the HapMap project. PDE4B NA19143 nsv506931 1 66337924 66343924 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619233 S 4 1 0 PDE4B NA10860 nsv1199 1 66474568 66497208 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4283 S 9 1 0 PDE4B NA12878 nsv461716 1 66508189 66539329 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538073 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PDE4B HGDP01099 nsv159464 1 66601539 66601678 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178042 M 24 PDE4B nsv159040 1 66601844 66603938 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177618 M 24 PDE4B nsv871500 1 66603958 66687713 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570942 S 6533 0 1 PDE4B IS32365 nsv518353 1 66623735 66635080 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694063 S 2026 0 1 "" nsv521150 1 66623735 66677729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694421 S 2026 0 1 "" nsv520534 1 66629612 66638629 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697473 S 2026 1 0 "" nsv461729 1 66717946 66735494 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538086 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00643 nsv461740 1 66728466 66741672 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538097 S 1557 0 1 "" 1798860592_A esv23553 1 66731739 66732462 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11500 S 451 1 0 "" NA18511 esv8134 1 66731888 66731984 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30575 S 1 1 0 "" SJK nsv524963 1 66733303 66733710 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700984 S 2026 0 1 "" nsv518465 1 66758965 66761174 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694064 S 2026 1 0 "" nsv1210 1 66789883 66805791 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9249 S 9 0 1 SGIP1 NA12156 nsv1221 1 66820496 66865284 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7152 S 9 0 1 SGIP1 NA12156 nsv1232 1 66845498 66861033 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2965 S 9 1 0 SGIP1 NA18555 nsv160302 1 66851605 66853397 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178880 M 24 SGIP1 nsv830093 1 66946182 67120852 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447006 S 95 1 0 INSL5,SGIP1,TCTEX1D1,WDR78 esv997677 1 66959263 66966868 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565597 S 3 0 1 SGIP1 HuRef esv2571464 1 66973113 66974678 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235477 S 1 0 1 SGIP1 NA18507 esv2094631 1 66973618 66974337 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654863 S 1 0 1 SGIP1 NA18507 esv4277 1 66973748 66974211 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26718 S 1 0 1 Single Asian sample YH SGIP1 YH esv6908 1 66973815 66974123 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29349 S 1 0 1 SGIP1 SJK esv1009176 1 67000464 67004528 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565004 S 3 0 1 TCTEX1D1 HuRef esv271769 1 67027788 67027881 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494305,essv2506032,essv2505836,essv2507185,essv2509322,essv2498900,essv2497643,essv2502086 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18523,NA18861,NA18870,NA18909,NA19138,NA19147,NA19257 nsv818200 1 67041230 67054777 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417530 S 112 1 0 WDR78 NA18968 dgv235n71 1 67041230 67147794 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871259,nsv871738 M 6533 0 2 WDR78 IS31205,IS39923 nsv871177 1 67051782 67093404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500969 S 6533 0 1 WDR78 SP50725 nsv519580 1 67054777 67066731 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656960,nssv705456,nssv662308,nssv662919,nssv676630,nssv677440,nssv698683 M 2026 0 7 WDR78 nsv871720 1 67130184 67207749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513904 S 6533 0 1 MIER1,WDR78 SP55878 esv273286 1 67196691 67197026 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580177,essv2580429 M 7 2 0 Samples from several populations that are part of the HapMap project. MIER1 NA12878,NA12891 nsv461751 1 67252186 67461624 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538108 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf141,IL23R,SLC35D1 HGDP01099 nsv506932 1 67267745 67273745 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619234 S 4 1 0 SLC35D1 NA10860 nsv461762 1 67323797 67421048 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538118 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf141,IL23R HGDP01368 nsv870950 1 67348137 67399848 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588926 S 6533 1 0 C1orf141 IS38267 nsv1243 1 67472877 67517925 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7157 S 9 0 1 IL23R NA12156 nsv870652 1 67532728 67549609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508756 S 6533 0 1 IL12RB2 SP54725 nsv871374 1 67560563 67648121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591974 S 6533 0 1 IL12RB2,SERBP1 IS39119 nsv10228 1 67564981 67568759 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19763 S 31 1 0 Samples from several populations that are part of the HapMap project. IL12RB2 NA18972 nsv871075 1 67567907 67599604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503530 S 6533 1 0 IL12RB2 SP52077 nsv871879 1 67575520 67594035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499535 S 6533 0 1 IL12RB2 SP50128 nsv461773 1 67594965 67681232 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538129 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IL12RB2,SERBP1 HGDP00047 dgv236n71 1 67618744 67634991 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871227,nsv870838 M 6533 0 2 IL12RB2 SP52113,SP54381 nsv1254 1 67632752 67666617 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1162 S 9 1 0 IL12RB2,SERBP1 NA19240 nsv524576 1 67710339 67718990 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700532 S 2026 1 0 "" nsv511696 1 67780119 67781599 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626336 S 1 0 1 "" 1 esv2439079 1 67780237 67782314 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171405 S 1 0 1 "" NA18507 esv2238529 1 67780381 67781605 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724128 S 1 0 1 "" NA18507 esv3800 1 67780524 67781508 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26241 S 1 0 1 Single Asian sample YH "" YH esv9709 1 67780599 67781439 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32150 S 1 0 1 "" SJK dgv49n67 1 67780751 67781513 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823120,nsv823131 M 31 11 0 "" AK10,AK14,AK6,NA18537,NA18552,NA18564,NA18942,NA18951,NA18972,NA18973,NA18999 nsv821071 1 67780751 67781513 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420369 S 1 0 1 "" NA10851 nsv1265 1 67807848 67831620 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2160 S 9 1 0 "" NA18555 esv33021 1 67813930 67814120 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99498 S 51 0 1 "" 22335 esv32529 1 67843002 67843810 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99297 S 51 1 0 "" 22275 esv33652 1 67843693 67843997 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100924,essv97866,essv92756 M 51 3 0 "" 21693,21837,21944 nsv517964 1 67843970 67846229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695376 S 2026 0 1 "" nsv516001 1 67845515 67846229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692601,nssv678642,nssv665657 M 2026 0 3 "" nsv521648 1 67877774 67879093 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698266 S 2026 0 1 "" nsv1276 1 67922224 67936256 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7165 S 9 0 1 GADD45A NA12156 esv1336934 1 67948197 67948273 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133130 S 2 0 1 GNG12 HuRef esv1542404 1 67948375 67948477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663832 S 2 0 1 GNG12 HuRef esv273176 1 67981071 67981354 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580979 S 7 1 0 Samples from several populations that are part of the HapMap project. GNG12 NA19238 nsv830104 1 68037921 68208334 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447017 S 95 1 0 GNG12,LOC100289178 nsv517355 1 68349987 68354587 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673300,nssv701730,nssv666740,nssv684789,nssv678466,nssv669270,nssv687389,nssv675437,nssv688322,nssv677762,nssv682691,nssv654685,nssv654659,nssv695869,nssv653232,nssv672344,nssv673553,nssv676840,nssv651805,nssv651879,nssv678266,nssv670773,nssv679887,nssv679212,nssv690120,nssv669543,nssv672613,nssv667280,nssv658667,nssv681325,nssv652333,nssv685631,nssv701342,nssv658487,nssv677716,nssv658373,nssv669618 M 2026 2 35 LOC100289178,WLS nsv522414 1 68354428 68355170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695197 S 2026 0 1 LOC100289178,WLS nsv522557 1 68412941 68415679 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705939 S 2026 0 1 LOC100289178,WLS nsv518820 1 68426864 68440271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696273 S 2026 0 1 LOC100289178,WLS nsv870722 1 68498495 68519095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501277 S 6533 0 1 "" SP51145 esv993659 1 68500474 68500474 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577299 S 3 1 0 "" HuRef nsv871753 1 68508487 68551712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502198 S 6533 0 1 "" SP50754 nsv508014 1 68508792 68514792 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621468,nssv624211,nssv622289 M 4 0 3 "" NA10860,NA15510,NA18994 nsv506933 1 68553576 68559576 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619235,nssv617531,nssv620656,nssv623269 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2124751 1 68660850 68661299 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892699 S 1 0 1 "" NA18507 esv2629888 1 68792056 68794298 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202361 S 1 0 1 "" NA18507 esv259801 1 68827808 68828153 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396731,essv2395270,essv2398916,essv2397564,essv2398083,essv2400755,essv2395401,essv2397964,essv2399174,essv2399753,essv2397711,essv2396476,essv2395035,essv2396168,essv2396297,essv2400132,essv2394658,essv2397934,essv2394584,essv2395193,essv2398026,essv2397222 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA11918,NA11995,NA12044,NA12144,NA12717,NA12749,NA12751,NA12776,NA12828,NA18502,NA18517,NA18519,NA18523,NA18558,NA18861,NA18870,NA18907,NA18965,NA19108,NA19147,NA19225 nsv522218 1 68843040 68859905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694145 S 2026 0 1 "" nsv527722 1 68984641 69095810 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704203 S 2026 0 1 "" esv1532177 1 69003210 69003348 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655409 S 2 0 1 "" HuRef dgv237n71 1 69095810 69218869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870641,nsv871131 M 6533 0 2 "" IS31335,IS40627 nsv508271 1 69295310 69319957 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620132 S 4 0 1 "" NA15510 nsv508015 1 69312908 69318908 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624212 S 4 0 1 "" NA18994 esv9447 1 69314294 69314397 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31888 S 1 1 0 "" SJK nsv830115 1 69366082 69509583 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447028 S 95 1 0 "" nsv1287 1 69421303 69456215 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4293 S 9 1 0 "" NA12878 nsv1299 1 69459815 69504813 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7173 S 9 0 1 "" NA12156 nsv1310 1 69526124 69571221 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7182 S 9 0 1 "" NA12156 nsv870931 1 69538180 69731649 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510570 S 6533 1 0 "" SP54967 nsv1321 1 69573626 69619442 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6648 S 9 0 1 "" NA12156 esv2616575 1 69579218 69580942 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193894 S 1 0 1 "" NA18507 esv2135896 1 69579389 69580084 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789933 S 1 0 1 "" NA18507 esv3304 1 69579478 69580017 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25745 S 1 0 1 Single Asian sample YH "" YH esv5500 1 69579576 69579935 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27941 S 1 0 1 "" SJK nsv160388 1 69579581 69579899 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178966 M 24 "" esv1191966 1 69579592 69579911 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657881 S 2 0 1 "" HuRef nsv1332 1 69666943 69677806 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7197 S 9 0 1 "" NA12156 esv2271565 1 69716134 69716806 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677248 S 1 0 1 "" NA18507 esv4719 1 69716232 69716670 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27160 S 1 0 1 Single Asian sample YH "" YH esv2518942 1 69716304 69716609 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276111 S 1 0 1 "" NA18507 esv1350326 1 69716313 69716619 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163751 S 2 0 1 "" HuRef esv6225 1 69716314 69716628 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28666 S 1 0 1 "" SJK nsv436273 1 69768614 69775243 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466006 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv29466 1 69768981 69774797 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20770 S 451 0 3 "" NA18505,NA18517,NA19108 nsv830126 1 69787467 69940567 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447039 S 95 1 0 "" esv2599141 1 69799188 69800948 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305113 S 1 0 1 "" NA18507 esv2329340 1 69799746 69800448 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4894374 S 1 0 1 "" NA18507 esv9169 1 69799904 69800265 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31610 S 1 0 1 "" SJK esv2548607 1 69827280 69827386 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174702 S 1 0 1 "" NA18507 esv271782 1 69834219 69834567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518793,essv2514773,essv2515117,essv2516112,essv2514257,essv2517651,essv2516271,essv2516879 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12234,NA12812,NA12873,NA12874,NA12878,NA12891,NA12892 esv272486 1 69834224 69834562 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581865,essv2582609,essv2582922 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv271435 1 69840721 69840959 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496810,essv2510528,essv2509071,essv2505303,essv2510894,essv2511974,essv2501920,essv2498217 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18501,NA18522,NA18853,NA19116,NA19238,NA19239,NA19240 esv272998 1 69840733 69841015 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579091,essv2579673 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv273553 1 69863614 69863809 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580573 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268770 1 69863622 69863707 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519228,essv2515476,essv2515699,essv2517932,essv2517181,essv2515267,essv2518377 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12249,NA12815,NA12872,NA18970,NA19238,NA19240 esv273789 1 69866002 69866478 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580525,essv2579379,essv2579443 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv271290 1 69866009 69866195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500316,essv2495777,essv2513076 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10847,NA12891 esv267530 1 69878924 69879146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496251,essv2494858,essv2493967,essv2506949,essv2506409,essv2498829 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18519,NA18871,NA19102,NA19108,NA19138 nsv461784 1 70004123 70078833 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538136 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRRC7 HGDP01285 esv269382 1 70013089 70013437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511922,essv2504222,essv2501415 M 157 3 0 Samples from several populations that are part of the HapMap project. LRRC7 NA18499,NA18505,NA19093 nsv521307 1 70055463 70061235 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697913 S 2026 0 1 LRRC7 esv2617051 1 70130092 70131918 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170751 S 1 0 1 LRRC7 NA18507 nsv525370 1 70134421 70139675 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701490 S 2026 0 1 LRRC7 esv1094257 1 70154389 70154389 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313496 S 2 1 0 LRRC7 HuRef esv1056018 1 70154433 70154433 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635647 S 2 1 0 LRRC7 HuRef nsv512742 1 70154435 70155149 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625369 S 1 1 0 LRRC7 1 esv269688 1 70184910 70184995 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514665,essv2517416 M 157 2 0 Samples from several populations that are part of the HapMap project. LRRC7 NA11840,NA11918 nsv871018 1 70222612 70268967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505498 S 6533 0 1 LRRC7 SP53583 nsv526839 1 70232474 70248382 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703196 S 2026 1 0 LRRC7 dgv18n27 1 70248382 70339569 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461806,nsv461795 M 1557 0 2 LRRC7 1780862003_A,1780862459_A nsv871339 1 70378323 70407051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499613 S 6533 0 1 LRRC40 SP50144 nsv870841 1 70385004 70469142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507177 S 6533 0 1 LRRC40,SRSF11 SP54490 nsv823143 1 70420622 70422873 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428031,nssv1435658 M 31 0 2 LRRC40 AK10,NA18566 nsv1343 1 70437757 70469588 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10021 S 9 1 0 LRRC40,SRSF11 NA18956 nsv871898 1 70454074 70495935 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515323 S 6533 0 1 SRSF11 SP56172 nsv871430 1 70538247 70592500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508712 S 6533 0 1 ANKRD13C SP54579 nsv830137 1 70538509 70731306 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447050 S 95 0 1 ANKRD13C,CTH,HHLA3 esv2555384 1 70540011 70541453 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363733 S 1 0 1 ANKRD13C NA18507 esv1997734 1 70540513 70541213 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539725 S 1 0 1 ANKRD13C NA18507 esv4055 1 70540662 70541080 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26496 S 1 0 1 Single Asian sample YH ANKRD13C YH esv27106 1 70593179 70597702 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11736 S 451 0 1 HHLA3 NA19225 nsv871100 1 70631985 70701374 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560153 S 6533 1 0 CTH MS24343 nsv461828 1 70653305 70694948 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538174 S 1557 0 1 CTH 1782681216_A nsv522935 1 70659771 70660689 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698598 S 2026 0 1 CTH esv271400 1 70684983 70685323 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515322,essv2517741 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12878 esv273209 1 70684983 70685323 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581473 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2451764 1 70718037 70719760 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236686 S 1 0 1 "" NA18507 esv2293248 1 70718587 70719298 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693930 S 1 0 1 "" NA18507 esv4053 1 70718749 70719245 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26494 S 1 0 1 Single Asian sample YH "" YH esv1546564 1 70718793 70719124 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252933 S 2 0 1 "" HuRef esv7379 1 70718801 70719111 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29820 S 1 0 1 "" SJK nsv871024 1 70860694 70942453 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545939 S 6533 1 0 "" MS17056 nsv871703 1 70866393 70899649 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536361 S 6533 1 0 "" MS12727 esv1583796 1 70885855 70885855 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299396 S 2 1 0 "" HuRef esv33887 1 70894407 70897146 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99773 S 51 0 1 "" 22086 nsv517877 1 70910524 70914790 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695284 S 2026 1 0 "" nsv526237 1 70914756 70918410 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702505 S 2026 0 1 "" esv2461343 1 70920779 70922258 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290277 S 1 0 1 "" NA18507 esv2223167 1 70921221 70921812 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762886 S 1 0 1 "" NA18507 esv24168 1 71009946 71012899 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17158 S 451 0 2 "" NA18858,NA18907 esv26722 1 71016694 71022161 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18463 S 451 0 1 "" NA12004 nsv516651 1 71077666 71079337 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669897,nssv656299 M 2026 0 2 "" nsv830148 1 71082954 71256520 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447061 S 95 1 0 PTGER3 nsv871604 1 71125692 71134261 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519761 S 6533 1 0 PTGER3 SP50544 esv994407 1 71141275 71144923 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565316 S 3 1 0 PTGER3 HuRef nsv871313 1 71164234 71262026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563368 S 6533 0 1 PTGER3 MS25976 nsv516212 1 71194152 71241081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655781,nssv666846,nssv680621 M 2026 0 3 PTGER3 nsv871222 1 71200430 71246379 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593117,nssv1576861,nssv1596768,nssv1573623,nssv1587652 M 6533 0 5 PTGER3 IS33475,IS34289,IS38087,IS39361,IS40635 nsv871141 1 71212805 71226140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557511 S 6533 0 1 PTGER3 MS22741 nsv461851 1 71215214 71280129 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538190 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTGER3 HGDP01303 dgv238n71 1 71237880 71262026 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870843,nsv870576 M 6533 0 2 PTGER3 MS24528,MS25963 nsv870734 1 71242171 71257624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527851 S 6533 0 1 PTGER3 SP81040 nsv871812 1 71253638 71262026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551505,nssv1554722,nssv1586443,nssv1560211,nssv1600261,nssv1584410,nssv1577249 M 6533 0 7 PTGER3 IS34400,IS36990,IS37801,IS41866,MS18916,MS20947,MS24373 nsv871242 1 71253638 71291914 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575397 S 6533 0 1 LOC100132618,PTGER3 IS33738 nsv871147 1 71257155 71266953 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519762 S 6533 1 0 PTGER3 SP50544 nsv521769 1 71351030 71406307 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694536 S 2026 0 1 "" nsv870650 1 71363465 71415565 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513139 S 6533 1 0 "" SP55690 nsv818211 1 71376291 71406307 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417325 S 112 1 0 "" NA18608 nsv511697 1 71512212 71514999 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626337 S 1 0 1 "" 1 esv2595054 1 71513333 71514924 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209205 S 1 0 1 "" NA18507 esv1921566 1 71513718 71514429 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735718 S 1 0 1 "" NA18507 esv3994 1 71513842 71514290 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26435 S 1 0 1 Single Asian sample YH "" YH esv5496 1 71513902 71514297 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27937 S 1 0 1 "" SJK esv997283 1 71513907 71514216 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572212 S 3 0 1 "" HuRef esv1633019 1 71513920 71514230 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711044 S 2 0 1 "" HuRef nsv830159 1 71544896 71682448 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447074 S 95 1 0 NEGR1 dgv19n27 1 71621625 71710282 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461862,nsv461873 M 1557 2 0 NEGR1 HGDP01234,HGDP01242 nsv830170 1 71629035 71781346 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447085 S 95 1 0 NEGR1 nsv526840 1 71685500 71690707 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703197 S 2026 1 0 NEGR1 esv1009711 1 71809497 71814539 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563850 S 3 1 0 NEGR1 HuRef esv275261 1 71812942 71817568 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585672 S 1250 0 1 NEGR1 nsv461895 1 71852486 71979387 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538221 S 1557 0 1 NEGR1 NINDS_130 nsv871330 1 71877035 71912987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504590 S 6533 0 1 NEGR1 SP52656 nsv830181 1 71928571 72069166 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447096 S 95 1 0 NEGR1 esv2609491 1 71958516 71959877 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225742 S 1 0 1 NEGR1 NA18507 esv2459000 1 72031207 72032271 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381402 S 1 1 0 NEGR1 NA18507 esv1377110 1 72031535 72031535 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231744 S 2 1 0 NEGR1 HuRef dgv239n71 1 72073556 72148850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870762,nsv871908 M 6533 0 2 NEGR1 SP53041,SP57266 esv992761 1 72132309 72133477 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587168 S 3 0 1 NEGR1 HuRef esv27109 1 72132674 72133716 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11316 S 451 2 0 NEGR1 NA18511,NA18916 esv1246885 1 72166426 72166426 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3799312 S 2 1 0 NEGR1 HuRef nsv512743 1 72166628 72167707 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625370 S 1 1 0 NEGR1 1 nsv508016 1 72198917 72204917 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621469 S 4 0 1 NEGR1 NA15510 nsv1354 1 72203752 72248110 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2161 S 9 0 1 NEGR1 NA18555 esv4720 1 72222102 72222751 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27161 S 1 0 1 Single Asian sample YH NEGR1 YH dgv50n67 1 72222105 72222572 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823154,nsv823165 M 31 4 0 NEGR1 AK6,NA18949,NA18951,NA18999 nsv821519 1 72222105 72222572 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420380 S 1 0 1 NEGR1 NA10851 esv8759 1 72222174 72222666 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31200 S 1 0 1 NEGR1 SJK nsv818223 1 72249809 72255233 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417531 S 112 1 0 NEGR1 NA18968 nsv428454 1 72277057 72698844 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450265 S 62 0 1 NEGR1 NA19108 esv2595732 1 72286214 72287290 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282792 S 1 1 0 NEGR1 NA18507 esv273917 1 72286672 72287011 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581623 S 7 1 0 Samples from several populations that are part of the HapMap project. NEGR1 NA12878 esv269005 1 72286674 72287005 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521343,essv2531730,essv2525238,essv2520063,essv2561816,essv2537616,essv2530488,essv2557295,essv2532399,essv2550137,essv2569768,essv2544648,essv2523526,essv2541194,essv2524414,essv2534596,essv2539680,essv2549390,essv2559949,essv2566237,essv2532628,essv2541811,essv2563897,essv2572350,essv2543526,essv2533890,essv2555649,essv2573951,essv2534416,essv2573402,essv2543192,essv2529782,essv2575325,essv2538609,essv2560702,essv2574560,essv2568807,essv2560491,essv2549806,essv2547832 M 157 40 0 Samples from several populations that are part of the HapMap project. NEGR1 NA07347,NA11894,NA12006,NA12156,NA12815,NA12874,NA12878,NA18486,NA18499,NA18505,NA18511,NA18520,NA18526,NA18537,NA18545,NA18555,NA18561,NA18563,NA18564,NA18570,NA18572,NA18576,NA18592,NA18603,NA18609,NA18870,NA18916,NA18945,NA18951,NA18959,NA18964,NA18965,NA19093,NA19102,NA19108,NA19116,NA19138,NA19147,NA19190,NA19225 dgv240n71 1 72306515 72384303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870851,nsv870742 M 6533 0 2 NEGR1 SP56004,SP56154 nsv470715 1 72379006 72432468 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547733 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NEGR1 HGDP01301 nsv528210 1 72379006 72432468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704771 S 2026 0 1 NEGR1 nsv1365 1 72383623 72402520 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7205 S 9 0 1 NEGR1 NA12156 nsv830192 1 72389150 72578706 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447118,nssv1447129,nssv1447107 M 95 3 0 NEGR1 nsv516389 1 72394051 72429646 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691817,nssv667959 M 2026 0 2 NEGR1 nsv461951 1 72407500 72479814 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538258 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NEGR1 HGDP01337 esv2528141 1 72410963 72411881 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241865 S 1 1 0 NEGR1 NA18507 nsv508017 1 72485317 72491317 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622290 S 4 0 1 NEGR1 NA10860 nsv1376 1 72507166 72595974 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6658,nssv10026,nssv9515,nssv2178,nssv10935,nssv9301,nssv5633,nssv4300 M 9 0 8 NEGR1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129 nsv254 1 72507579 72595782 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv254 S 1 0 1 NEGR1 NA15510 dgv56e1 1 72514984 72659401 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18231,essv6573,essv5187,essv9974,essv15083,essv9072,essv20098,essv19971,essv8162,essv23019,esv340,essv13838,essv19534,essv7142,essv21429,essv18931,essv6180,essv20234 M 271 0 0 NEGR1 NA07048,NA12005,NA12057,NA12144,NA12717,NA12812,NA12813,NA12864,NA18532,NA18547,NA18611,NA18621,NA18854,NA19099,NA19129,NA19132,NA19206 esv33679 1 72519167 72523215 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98657,essv93634,essv99853 M 51 3 0 NEGR1 21606,21972,22086 nsv830204 1 72522439 72711159 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447140 S 95 1 0 "" nsv511137 1 72523773 72537704 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624821 S 1 0 1 "" 1 esv1007188 1 72526539 72538645 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563729 S 3 0 1 "" HuRef nsv435635 1 72526998 72537535 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466017 S 2 0 1 "" NA15510 nsv511698 1 72527749 72536663 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626338 S 1 0 1 "" 1 esv33344 1 72527759 72536260 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101491,essv97530,essv96756,essv95074,essv98257,essv94836,essv94014,essv101341,essv94402,essv96979,essv97870,essv95702,essv93101,essv95333,essv101618,essv95831,essv98939,essv92867,essv93632,essv96169,essv97186,essv98619,essv99981,essv93462,essv99643,essv94946,essv98037,essv100290,essv99539,essv94221 M 51 29 1 "" 21603,21616,21659,21721,21772,21791,21802,21805,21808,21817,21837,21841,21863,21872,21909,21911,21938,21939,21972,22007,22075,22085,22086,22128,22217,22231,22259,22300,22335,22394 nsv10239 1 72527787 72537592 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15100,nssv16440,nssv13768,nssv12427,nssv16754 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA11830,NA12802,NA18517,NA19144,NA19221 esv24673 1 72527959 72536624 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16390 S 451 0 7 "" NA12156,NA15510,NA18508,NA18517,NA18523,NA19147,NA19190 nsv510891 1 72528173 72592186 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618632 S 4 0 0 "" CHM nsv823176 1 72528192 72536183 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434172 S 31 0 1 "" NA18570 nsv513989 1 72528416 72536288 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628402 S 1414 0 0 "" esv2422096 1 72528637 72535958 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5002045,essv5084009,essv5090927,essv5096827,essv5033067,essv5011912,essv5113965,essv5069944,essv5061583,essv5110254,essv5054768,essv5038851,essv5060638,essv5007522,essv5016685,essv5002241,essv5082267,essv5074707,essv5095531,essv5069835,essv5080391,essv5070429,essv5072698,essv5113846,essv5025236,essv5048950,essv5094276,essv5156316,essv5067205,essv5071321,essv5127097,essv5128156,essv5056706,essv5053180,essv5137712,essv5005879,essv5051082,essv5063732,essv5139143,essv5109321,essv5058712,essv5037083,essv5064582,essv5082623,essv5109775,essv5021039,essv5153925,essv5144595,essv5042390,essv5019846,essv5004972,essv5053574,essv5121697,essv5044291,essv5092619,essv5141944,essv5042271,essv5154703,essv5028225,essv5084939,essv5120645,essv5111959,essv5059211,essv5093656,essv5020402,essv5140437,essv5159625,essv5159283,essv5057198,essv5043948,essv5037758,essv5004222,essv5081703,essv5112798,essv5017550,essv5041705,essv5107681,essv5102441,essv5137822,essv5009671,essv5059103,essv5098696,essv5010522,essv5032045,essv5088426,essv5114341,essv5138080,essv5108672,essv5076087,essv5037723,essv5017910,essv5059930,essv5017446,essv5120479,essv5150945,essv5102640,essv5156445,essv5080650,essv5080131,essv5097177,essv5056670,essv5038663,essv5142346,essv5144420,essv5120096,essv5135507,essv5096614,essv5045344,essv5055600,essv5016689,essv5051087,essv5013496,essv5004903,essv5070262,essv5101945,essv5121628,essv5012488,essv5136907,essv5013466,essv5010529,essv5053145,essv5134014,essv5075640,essv5024781,essv5141515,essv5023216,essv5154334,essv5007209,essv5083860,essv5017301,essv5110204,essv5137561,essv5046636,essv5095173,essv5076670,essv5025084,essv5048868,essv5068690,essv5030248,essv5103219,essv5128781,essv5014838,essv5097081,essv5063073,essv5156245,essv5030073,essv5058916,essv5143358,essv5043973,essv5156988,essv5006826,essv5104590,essv5120784,essv5024181,essv5045331,essv5079562,essv5010938,essv5088859,essv5094339,essv5007358,essv5055256,essv5071595,essv5113976,essv5005231,essv5102986 M 1184 0 165 "" NA06991,NA06993,NA07000,NA07022,NA07347,NA10830,NA10835,NA10843,NA10850,NA10852,NA10856,NA11830,NA11832,NA11918,NA11920,NA12043,NA12045,NA12156,NA12248,NA12273,NA12335,NA12341,NA12375,NA12383,NA12386,NA12399,NA12400,NA12413,NA12708,NA12718,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12767,NA12778,NA12802,NA12814,NA12815,NA12829,NA12842,NA12843,NA12873,NA12874,NA17966,NA18508,NA18510,NA18516,NA18517,NA18550,NA18570,NA18861,NA18863,NA18868,NA18912,NA19031,NA19036,NA19054,NA19059,NA19079,NA19117,NA19138,NA19139,NA19144,NA19147,NA19178,NA19190,NA19191,NA19193,NA19194,NA19203,NA19221,NA19222,NA19236,NA19247,NA19248,NA19249,NA19318,NA19334,NA19350,NA19360,NA19372,NA19376,NA19390,NA19625,NA19651,NA19653,NA19657,NA19659,NA19684,NA19708,NA19712,NA19760,NA19773,NA19779,NA19780,NA19781,NA19834,NA19836,NA19900,NA19982,NA20126,NA20276,NA20277,NA20279,NA20282,NA20288,NA20289,NA20290,NA20301,NA20319,NA20332,NA20502,NA20516,NA20517,NA20519,NA20520,NA20525,NA20527,NA20534,NA20541,NA20543,NA20757,NA20758,NA20761,NA20765,NA20774,NA20790,NA20792,NA20795,NA20797,NA20799,NA20803,NA20805,NA20807,NA20808,NA20809,NA20811,NA20816,NA20828,NA20853,NA20881,NA20882,NA20896,NA20898,NA20900,NA21097,NA21102,NA21106,NA21108,NA21116,NA21336,NA21364,NA21417,NA21453,NA21455,NA21513,NA21514,NA21517,NA21576,NA21577,NA21635 nsv442903 1 72528701 72535958 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv508282 1 72535680 72592186 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622766 S 4 0 1 "" NA18994 nsv437222 1 72537704 72550161 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467103 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19154 dgv4n17 1 72537704 72561278 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437220,nsv437225 M 60 0 2 "" NA19129,NA19202 dgv5n17 1 72537704 72585028 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437218,nsv437217,nsv437221,nsv437223,nsv437219 M 60 0 5 "" NA18500,NA18506,NA18515,NA19145,NA19161 esv2579314 1 72538330 72584647 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275117 S 1 0 1 "" NA18507 esv995847 1 72538365 72584745 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565326 S 3 0 1 "" HuRef esv2480676 1 72538468 72585074 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369149 S 1 0 1 "" NA18507 dgv2n16 1 72538468 72586954 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436617,nsv435862 M 2 0 2 "" NA15510,NA18505 esv2422081 1 72538673 72583736 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5025287,essv5051408,essv5108841,essv5042199,essv5086063,essv5095001,essv5029090,essv5140130,essv5116920,essv5090457,essv5035265,essv5160902,essv5126156,essv5094138,essv5113044,essv5013886,essv5039658,essv5064477,essv5067591,essv5035162,essv5108165,essv5105307,essv5110879,essv5002203,essv5137601,essv5155093,essv5072267,essv5142144,essv5110193,essv5078458,essv5149301,essv5110537,essv5066131,essv5015474,essv5090998,essv5061208,essv5064810,essv5113499,essv5114154,essv5126400,essv5020586,essv5078334,essv5058147,essv5051038,essv5133595,essv5115766,essv5051805,essv5120945,essv5073346,essv5002732,essv5039551,essv5025370,essv5104806,essv5006960,essv5047908,essv5004487,essv5092186,essv5114652,essv5123330,essv5036251,essv5022849,essv5112690,essv5058572,essv5120282,essv5087528,essv5094084,essv5115235,essv5020439,essv5037280,essv5099653,essv5158094,essv5025135,essv5100230,essv5138519,essv5075724,essv5031519,essv5133189,essv5021834,essv5042745,essv5156558,essv5076784,essv5153372,essv5044685,essv5119974,essv5152924,essv5046306,essv5003170,essv5147852,essv5029237,essv5090634,essv5160921,essv5034920,essv5142867,essv5082936,essv5132380,essv5085806,essv5043244,essv5076274,essv5147904,essv5058341,essv5090589,essv5070538,essv5145554,essv5149079,essv5159360,essv5127179,essv5157037,essv5109477,essv5077051,essv5111489,essv5033995,essv5031149,essv5084714,essv5081300,essv5041226,essv5031145,essv5150229,essv5018239,essv5095348,essv5150508,essv5136877,essv5069327,essv5073512,essv5067016,essv5006325,essv5049846,essv5149476,essv5041746,essv5058617,essv5063431,essv5156836,essv5157753,essv5012930,essv5155268,essv5057590,essv5053563,essv5014044,essv5100124,essv5140897,essv5027832,essv5129511,essv5096181,essv5056185,essv5152487,essv5052692,essv5127268,essv5083187,essv5075552,essv5141444,essv5126743,essv5022566,essv5080660,essv5081613,essv5037142,essv5112904,essv5020596,essv5005754,essv5084852,essv5145993,essv5026097,essv5057686,essv5134187,essv5065540,essv5084436,essv5112675,essv5048302,essv5105439,essv5111597,essv5009195,essv5092947,essv5055861,essv5134689,essv5048288,essv5105686,essv5040827,essv5047168,essv5133869,essv5106059,essv5039041,essv5035161,essv5044299,essv5016648,essv5022049,essv5139797,essv5016656,essv5078387,essv5037826,essv5029568,essv5126658,essv5060655,essv5148558,essv5107859,essv5046027,essv5141192,essv5028184,essv5126312,essv5008494,essv5048564,essv5069549,essv5137348,essv5139170,essv5126356,essv5087701,essv5119651,essv5031418,essv5043432,essv5103310,essv5098863,essv5016969,essv5102526,essv5124692,essv5063422,essv5006425,essv5050336,essv5119431,essv5095412,essv5027772,essv5024191,essv5147674,essv5022387,essv5035662,essv5005712,essv5065841,essv5105844,essv5092136,essv5024489,essv5060757,essv5061918,essv5088126,essv5072810,essv5123430,essv5083964,essv5069306,essv5129976,essv5116029,essv5051503,essv5056807,essv5071031,essv5129644,essv5010454,essv5068456,essv5155769,essv5142177,essv5127889,essv5071558,essv5054905,essv5058429,essv5021136,essv5050436,essv5095307,essv5096262,essv5032690,essv5026961,essv5012293,essv5076300,essv5148977,essv5127668,essv5038297,essv5065756,essv5095362,essv5113341,essv5144579,essv5058600,essv5049288,essv5048661,essv5133257,essv5138606,essv5121362,essv5117440,essv5085244,essv5054352,essv5153379,essv5082319,essv5135561,essv5056170,essv5004934,essv5022346,essv5039947,essv5125108,essv5157065,essv5002792,essv5071762,essv5106721,essv5019192,essv5146286,essv5103923,essv5154692,essv5142002,essv5132398,essv5099557,essv5098833,essv5048540,essv5065149,essv5013323,essv5121897,essv5061560,essv5154332,essv5066231,essv5060946,essv5076459,essv5111221,essv5072849,essv5100180,essv5149865,essv5097383,essv5159816,essv5064859,essv5098814,essv5040450,essv5011863,essv5088341,essv5059194,essv5136992,essv5010270,essv5105714,essv5159877,essv5039859,essv5054571,essv5101193,essv5088245,essv5080860,essv5010867,essv5136875,essv5094010,essv5149320,essv5020023,essv5143966,essv5079549,essv5078508,essv5067210,essv5097484,essv5142206,essv5101548,essv5145252,essv5042647,essv5155151,essv5088436,essv5119841,essv5153750,essv5025333,essv5159781,essv5091989,essv5095722,essv5109227,essv5145504,essv5016695,essv5142241,essv5090648,essv5150802,essv5074558,essv5037314,essv5030700,essv5065981,essv5156093,essv5055087,essv5050297,essv5018672,essv5060260,essv5093868,essv5061000,essv5064239,essv5009232,essv5062928,essv5034923,essv5081424,essv5034644,essv5158778,essv5152860,essv5107820,essv5006368,essv5043562,essv5087614,essv5079929,essv5130013,essv5092155,essv5024948,essv5024956,essv5060703,essv5053074,essv5148207,essv5061241,essv5025402,essv5027426,essv5144509,essv5089779,essv5153129,essv5133471,essv5046965,essv5008659,essv5145337,essv5078499,essv5053037,essv5136500,essv5160136,essv5118804,essv5017619,essv5053621,essv5112094,essv5008311,essv5148361,essv5003070,essv5144266,essv5069957,essv5117838,essv5137010,essv5016207,essv5084202,essv5040427,essv5003631,essv5067477,essv5030187,essv5021525,essv5037773,essv5147987,essv5100524,essv5101025,essv5131597,essv5042319,essv5084362,essv5139899,essv5026287,essv5033661,essv5070628,essv5098482,essv5142315,essv5149907,essv5158141,essv5116281,essv5113145,essv5104140,essv5063629,essv5027897,essv5072404,essv5100833,essv5070103,essv5021475,essv5012577,essv5084021,essv5048530,essv5075792,essv5116879,essv5134279,essv5034051,essv5155939,essv5077759,essv5064121,essv5144281,essv5029086,essv5135225,essv5138530,essv5146513,essv5143764,essv5137249,essv5080995,essv5126050,essv5003655,essv5002005,essv5037151,essv5119482,essv5015973,essv5099921,essv5065974,essv5078276,essv5051680,essv5109310,essv5097118,essv5027044,essv5108944,essv5132871,essv5078401,essv5005784,essv5131319,essv5002408,essv5109861,essv5150881,essv5098993,essv5138392,essv5040181,essv5027985,essv5118367,essv5160300,essv5119644,essv5099037,essv5045850,essv5054251,essv5133854,essv5114775,essv5148486,essv5138981,essv5133609,essv5032367,essv5159395,essv5110982,essv5006610,essv5127266,essv5160473,essv5034596,essv5105148,essv5097397,essv5065936,essv5018626,essv5151291,essv5026943,essv5080181,essv5092939,essv5016601,essv5118143,essv5087360,essv5056567,essv5074857,essv5014826,essv5009535,essv5148736,essv5005075,essv5154244,essv5150496,essv5133454,essv5126346,essv5102581,essv5060088,essv5093618,essv5091056,essv5062878,essv5014466,essv5063908,essv5027298,essv5067853,essv5067032,essv5060657,essv5041545,essv5106946,essv5134069,essv5064905,essv5012419,essv5013221,essv5158049,essv5042870,essv5058449,essv5154643,essv5132600,essv5084629,essv5070930,essv5029955,essv5089782,essv5089366,essv5052365,essv5048638,essv5129021,essv5060817,essv5098662,essv5048012,essv5155868,essv5074445,essv5077298,essv5117371,essv5148106,essv5016511,essv5101028,essv5106552,essv5063759,essv5146324,essv5106624,essv5044195,essv5082385,essv5018801,essv5025383,essv5033741,essv5097297,essv5032317,essv5046410,essv5095138,essv5098939,essv5105121,essv5140677,essv5073322,essv5098650,essv5076881,essv5140876,essv5084369,essv5151394,essv5153390,essv5005276,essv5013784,essv5107385,essv5122624,essv5062963,essv5021195,essv5039051,essv5109057,essv5025961,essv5019824,essv5004869,essv5083367,essv5141167,essv5151459,essv5039796,essv5031090,essv5121481,essv5111135,essv5096180,essv5008581,essv5066537,essv5015451,essv5157103,essv5003225,essv5138997,essv5105516,essv5154189,essv5128480,essv5075286,essv5103853,essv5017187,essv5024975,essv5057021,essv5037990,essv5130689,essv5110997,essv5073162,essv5138783,essv5121921,essv5024097,essv5040379,essv5093886,essv5143474,essv5137243,essv5012722,essv5015174,essv5103027,essv5086151,essv5005070,essv5160536,essv5099598,essv5094998,essv5059066,essv5005080,essv5102470,essv5043622,essv5139728,essv5136058,essv5054451,essv5133717,essv5071744,essv5155840,essv5098845,essv5043238,essv5053582,essv5135471,essv5025651,essv5039291,essv5082969,essv5048813,essv5012904,essv5111236,essv5030694,essv5054404,essv5048581,essv5116790,essv5125189,essv5079579,essv5126421,essv5069603,essv5091541,essv5104452,essv5033494,essv5071416,essv5086070,essv5123037,essv5112496,essv5122531,essv5085593,essv5019807,essv5098118,essv5010334,essv5006846,essv5112185,essv5085095,essv5143230,essv5046064,essv5054653,essv5048690,essv5056757,essv5005824,essv5084419,essv5132853,essv5034659,essv5044293,essv5072528,essv5003991,essv5018305,essv5107910,essv5046401,essv5099687,essv5100178,essv5109143,essv5006118,essv5133705,essv5116981,essv5062892,essv5085511,essv5058893,essv5045902,essv5104363,essv5148124,essv5033854,essv5027837,essv5019622,essv5139097,essv5100140,essv5043560,essv5089626,essv5009691,essv5156415,essv5018266,essv5140720,essv5119442,essv5151410,essv5094966,essv5025397,essv5038227,essv5099444,essv5090361,essv5010997,essv5004263,essv5024785,essv5031315,essv5066290,essv5123336,essv5041428,essv5088038,essv5133030,essv5070882,essv5080260,essv5120064,essv5030674,essv5072384,essv5003739,essv5096816,essv5145970,essv5106837,essv5021528,essv5136268,essv5103915,essv5094753,essv5117429,essv5029493,essv5159448,essv5010627,essv5100784,essv5141582,essv5138369,essv5145019,essv5097805,essv5041636,essv5147178,essv5065269,essv5130192,essv5053318,essv5116248,essv5041436,essv5148354,essv5157725,essv5009918,essv5152150,essv5104195,essv5021490,essv5117057,essv5084001,essv5078960,essv5144316,essv5066016,essv5004122,essv5158983,essv5109509,essv5004654,essv5142379,essv5071463,essv5023150,essv5101013,essv5119316,essv5154729,essv5095559,essv5078888,essv5154261,essv5002527,essv5047246,essv5066568,essv5011961,essv5054731,essv5021095,essv5071197,essv5125545,essv5132632,essv5079283,essv5127505,essv5042427,essv5134654,essv5142363,essv5016988,essv5083951,essv5003336,essv5022633,essv5109141,essv5015056,essv5024494,essv5148744,essv5024548,essv5141881,essv5076328,essv5133558,essv5158196,essv5058563,essv5158831,essv5072586,essv5084682,essv5072865,essv5153936,essv5038113,essv5009934,essv5143166,essv5149586,essv5130940,essv5082102,essv5004430,essv5158254,essv5071566,essv5078006,essv5099043,essv5007399,essv5052456,essv5088043,essv5011988,essv5078167,essv5136258,essv5141453,essv5081511,essv5035831,essv5109291,essv5080551,essv5034680,essv5128014,essv5159797,essv5148706,essv5012345,essv5095871,essv5018584,essv5125655,essv5138964,essv5094508,essv5139068,essv5104636,essv5043141,essv5028394,essv5156706,essv5090812,essv5139686,essv5106003,essv5008351,essv5149307,essv5118613,essv5154240,essv5122086,essv5160748,essv5032518,essv5124628,essv5089786,essv5134768,essv5013726,essv5107308,essv5077904,essv5067136,essv5003200,essv5149815,essv5113246,essv5111500,essv5040467,essv5083696,essv5080205,essv5060917,essv5008263,essv5109487,essv5036695,essv5068260,essv5105903,essv5150005,essv5041312,essv5081652,essv5103640,essv5055794,essv5094118,essv5002315,essv5063904,essv5144117,essv5127577,essv5159098,essv5157667,essv5035490,essv5024388,essv5041461,essv5130529,essv5051241,essv5122167,essv5026463,essv5138536,essv5011067,essv5098810,essv5017094,essv5095736,essv5036546,essv5160627,essv5013128,essv5016966,essv5154796,essv5122821,essv5100984,essv5104196,essv5018673,essv5142292,essv5134588,essv5059658,essv5067918,essv5128947,essv5160621,essv5040240,essv5025259,essv5081662,essv5019963,essv5062142,essv5078662,essv5087693,essv5132268,essv5148000,essv5055659,essv5158347,essv5018714,essv5139110,essv5080376,essv5052700,essv5077916,essv5044750,essv5113107,essv5145881,essv5058462,essv5053326,essv5143561,essv5072306,essv5006495,essv5030183,essv5026982,essv5153741,essv5122823,essv5157998,essv5144341,essv5134507,essv5044427,essv5074155,essv5106919,essv5084219,essv5066940,essv5089174,essv5089081,essv5089054,essv5011723,essv5147391,essv5043399,essv5059431,essv5070503,essv5018460,essv5077366,essv5095945,essv5045970,essv5130993,essv5088446,essv5112997,essv5107761,essv5145602,essv5074531,essv5079652,essv5045252,essv5004433,essv5040734,essv5118451,essv5127386,essv5102051,essv5015352,essv5146767,essv5105319,essv5028032,essv5082812,essv5090082,essv5050946,essv5022624,essv5071534,essv5020733,essv5050834,essv5096414,essv5016017,essv5005428,essv5141254,essv5046021,essv5140041,essv5048098,essv5049997,essv5031962,essv5112551,essv5034831,essv5064765,essv5038613,essv5042442,essv5052779,essv5055479,essv5135562,essv5049477,essv5047848,essv5123814,essv5075996,essv5103869,essv5105525,essv5095857,essv5090380,essv5087726,essv5047228,essv5114113,essv5035163,essv5122294,essv5012969,essv5024203,essv5151153 M 1184 0 1027 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10836,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11919,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12234,NA12239,NA12249,NA12264,NA12272,NA12275,NA12282,NA12283,NA12286,NA12287,NA12336,NA12340,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18487,NA18488,NA18489,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18510,NA18511,NA18515,NA18516,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18867,NA18868,NA18869,NA18870,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18917,NA18923,NA18925,NA18930,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19117,NA19119,NA19121,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19137,NA19139,NA19141,NA19143,NA19146,NA19147,NA19148,NA19150,NA19152,NA19153,NA19154,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19192,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19223,NA19224,NA19225,NA19226,NA19235,NA19237,NA19238,NA19247,NA19248,NA19249,NA19256,NA19258,NA19307,NA19309,NA19310,NA19311,NA19313,NA19315,NA19316,NA19317,NA19318,NA19321,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19359,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19403,NA19404,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19439,NA19443,NA19444,NA19446,NA19448,NA19449,NA19455,NA19456,NA19462,NA19467,NA19468,NA19469,NA19471,NA19472,NA19473,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19685,NA19700,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19774,NA19776,NA19777,NA19778,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19904,NA19908,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20322,NA20333,NA20334,NA20336,NA20337,NA20342,NA20343,NA20344,NA20345,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20510,NA20512,NA20515,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20756,NA20759,NA20760,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20783,NA20785,NA20786,NA20787,NA20790,NA20795,NA20796,NA20797,NA20799,NA20800,NA20802,NA20803,NA20804,NA20806,NA20807,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20818,NA20819,NA20826,NA20828,NA20846,NA20847,NA20849,NA20850,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20869,NA20870,NA20871,NA20873,NA20874,NA20875,NA20876,NA20877,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20895,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21117,NA21118,NA21119,NA21123,NA21125,NA21142,NA21143,NA21144,NA21297,NA21300,NA21302,NA21303,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21387,NA21389,NA21390,NA21391,NA21399,NA21401,NA21402,NA21403,NA21404,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21435,NA21436,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21513,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21574,NA21575,NA21576,NA21578,NA21582,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21632,NA21635,NA21636,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21768,NA21776,NA21825,NA21826 nsv10250 1 72538707 72585267 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14078,nssv14733,nssv13091,nssv13766,nssv12777,nssv15109,nssv17088,nssv13102,nssv15432,nssv14098,nssv17084,nssv12445,nssv14746,nssv14431,nssv15441,nssv20093,nssv14420,nssv14072,nssv15107,nssv14409,nssv17099,nssv18064,nssv14406,nssv12095 M 31 6 18 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA12155,NA12740,NA12872,NA18502,NA18517,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19007,NA19132,NA19144,NA19173,NA19240 nsv819206 1 72538803 72584603 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418741 S 2 0 1 "" AK1 dgv51n67 1 72538815 72584689 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823209,nsv823198,nsv823187 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821382 1 72538815 72584689 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420391 S 1 0 1 "" NA10851 esv4289 1 72538850 72584609 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26730 S 1 0 1 Single Asian sample YH "" YH esv24502 1 72538870 72584557 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15735 S 451 9 19 "" NA06985,NA07037,NA11931,NA11993,NA11995,NA12004,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18517,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19240,NA19257 nsv511699 1 72538880 72584444 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626339 S 1 0 1 "" 1 esv9190 1 72538911 72584432 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31631 S 1 0 1 "" SJK nsv498672 1 72538912 72584429 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585384 S 9 0 1 "" esv33765 1 72539082 72584229 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101535,essv101502,essv97459,essv96863,essv96793,essv96805,essv95163,essv95162,essv95155,essv95122,essv98333,essv98332,essv98320,essv94680,essv94652,essv94060,essv94053,essv93990,essv93973,essv101421,essv101418,essv101386,essv101311,essv96976,essv97063,essv97048,essv97044,essv97906,essv97814,essv95735,essv95578,essv95669,essv93164,essv93119,essv95308,essv95339,essv101620,essv101642,essv95805,essv95899,essv98989,essv98982,essv99057,essv99086,essv92860,essv92866,essv92926,essv92949,essv92699,essv93683,essv93637,essv93785,essv93716,essv96231,essv96205,essv98533,essv98631,essv100007,essv99978,essv99973,essv99921,essv93455,essv94914,essv94950,essv98050,essv98034,essv99317,essv99457,essv99564,essv98369,essv94191 M 51 4 25 "" 21603,21616,21659,21721,21772,21791,21802,21805,21817,21837,21841,21863,21872,21909,21911,21938,21939,21944,21972,22007,22085,22086,22128,22231,22259,22275,22335,22352,22394 nsv513990 1 72539216 72583480 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627019 S 1414 0 1 "" nsv437860 1 72540340 72581139 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471135,nssv471091,nssv471490,nssv471157,nssv471279,nssv471013,nssv471202,nssv471512,nssv471213,nssv471357,nssv471068,nssv471324,nssv471190,nssv471368,nssv471024,nssv471435,nssv471468,nssv471335,nssv471057,nssv471501,nssv471546,nssv471568,nssv471290,nssv471424,nssv471390,nssv471401,nssv471446,nssv471046,nssv471557,nssv471113,nssv471079,nssv471268,nssv471035,nssv471457,nssv471246,nssv471379,nssv471224,nssv471535,nssv471313,nssv471412,nssv471523,nssv471257,nssv471346,nssv471124,nssv471235,nssv471301,nssv471179,nssv471479,nssv471102,nssv471146,nssv471168 M 269 0 46 Samples from several populations that are part of the HapMap project. "" NA06985,NA06991,NA07000,NA07019,NA07022,NA07029,NA10830,NA10838,NA10839,NA10846,NA10851,NA10855,NA10857,NA10859,NA10860,NA10861,NA11832,NA11881,NA11993,NA11994,NA12003,NA12006,NA12043,NA12057,NA12145,NA12154,NA12707,NA12716,NA12740,NA12751,NA12864,NA12865,NA12873,NA12874,NA18500,NA18501,NA18506,NA18508,NA18515,NA18516,NA19143,NA19145,NA19160,NA19161,NA19200,NA19202 nsv442908 1 72541504 72583736 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv509313 1 72576470 72584398 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619805 S 4 1 0 "" NA10860 esv2422432 1 72594444 72921239 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161297 S 181 0 1 "" ND03704 nsv519970 1 72609827 72610078 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659734,nssv689963 M 2026 0 2 "" dgv241n71 1 72634435 72767986 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871758,nsv870463,nsv871873 M 6533 0 4 "" MS14516,SP50663,SP54916,SP57266 nsv830215 1 72641637 72802375 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447151 S 95 1 0 "" nsv528366 1 72732599 72733119 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704953 S 2026 0 1 "" esv2566918 1 72753471 72754510 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367062 S 1 1 0 "" NA18507 nsv871074 1 72759817 72872643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580045 S 6533 0 1 "" IS35229 dgv3e55 1 72784767 72860767 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2750838,esv2750839 M 771 0 2 "" SPC_133,SPC_155 esv267522 1 72791128 72791213 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517074 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 nsv516582 1 72793831 72856809 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672126,nssv677061,nssv669332,nssv705429,nssv702027 M 2026 2 3 "" nsv160576 1 72795170 72795225 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179154 M 24 "" nsv871371 1 72821273 72924692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548096 S 6533 0 1 "" MS17697 dgv242n71 1 72821273 73078181 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871636,nsv871181 M 6533 0 2 "" MS10393,MS19587 nsv871282 1 72867977 72889079 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500759 S 6533 1 0 "" SP50754 dgv57e1 1 72869688 72887793 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv965,essv7655 M 271 0 0 "" NA18632 esv28206 1 72895921 72896531 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19416 S 451 0 1 "" NA19257 dgv58e1 1 72954200 73079758 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5463,esv108 M 271 0 0 "" NA18632 esv273079 1 72979878 72980004 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580832,essv2579754 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv10261 1 73028775 73030984 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18424 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 esv2344712 1 73107879 73108306 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4745829 S 1 0 1 "" NA18507 esv271595 1 73211712 73211984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497297,essv2508328 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18545,NA18561 nsv870774 1 73333399 73479037 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593951 S 6533 1 0 "" IS39642 nsv1387 1 73349592 73390247 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9306,nssv10030,nssv6666,nssv1195,nssv5641,nssv4310 M 9 6 0 "" NA12156,NA12878,NA18517,NA18956,NA19129,NA19240 nsv509324 1 73353192 73356287 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619806 S 4 1 0 "" NA10860 nsv509335 1 73362535 73362535 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623784 S 4 1 0 "" NA18994 esv995897 1 73367487 73367752 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564125 S 3 1 0 "" HuRef nsv499463 1 73367568 73368149 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586157 S 9 1 0 "" esv1509362 1 73367621 73367621 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355980 S 2 1 0 "" HuRef dgv59e1 1 73385687 73548272 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv370,essv14340 M 271 0 0 "" NA19194 dgv243n71 1 73406601 73563271 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870929,nsv870622,nsv870886 M 6533 0 4 "" IS30764,IS31205,IS34489,MS15704 nsv871554 1 73420497 73655468 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557587 S 6533 1 0 "" MS22764 nsv870536 1 73420497 73804142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556536 S 6533 0 1 "" MS22104 dgv244n71 1 73438432 73563271 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871187,nsv871642 M 6533 9 0 "" MS14469,MS14755,MS16016,MS16188,MS17820,MS19301,MS22212,MS24101,MS24872 nsv10273 1 73452623 73484938 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13107,nssv14428 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA19132,NA19144 nsv441696 1 73454531 73483916 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv513991 1 73454688 73479192 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627130 S 1414 1 0 "" nsv871745 1 73472012 73514607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499287 S 6533 0 1 "" SP50144 nsv461962 1 73514607 73682643 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538269 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00760 nsv506934 1 73525156 73531156 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623270,nssv617532,nssv619236,nssv620657 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2544992 1 73525573 73527261 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183148 S 1 0 1 "" NA18507 esv2412229 1 73525996 73526713 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932550 S 1 0 1 "" NA18507 esv4715 1 73526139 73526570 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27156 S 1 0 1 Single Asian sample YH "" YH esv2532138 1 73526186 73526500 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234781 S 1 0 1 "" NA18507 esv1525281 1 73526195 73526510 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644641 S 2 0 1 "" HuRef esv9534 1 73526198 73526503 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31975 S 1 0 1 "" SJK esv1007056 1 73541371 73541721 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575847 S 3 0 1 "" HuRef esv1517216 1 73541371 73541722 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721076 S 2 0 1 "" HuRef nsv506935 1 73628280 73634280 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623271 S 4 1 0 "" NA18994 esv268444 1 73683658 73683743 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518953,essv2518933 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19239 esv273860 1 73683668 73683997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580326 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv1002539 1 73696249 73699314 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564783 S 3 0 1 "" HuRef nsv830226 1 73722727 73897891 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447162,nssv1447173 M 95 2 0 "" nsv830237 1 73948857 74125079 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447185 S 95 1 0 "" esv993926 1 74085020 74085270 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580432 S 3 0 1 "" HuRef esv5920 1 74085024 74085270 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28361 S 1 0 1 "" SJK nsv508018 1 74095744 74101744 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618496 S 4 0 1 "" CHM nsv522147 1 74111118 74756423 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694920 S 2026 0 1 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K nsv1398 1 74125978 74170968 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7224 S 9 0 1 "" NA12156 nsv470717 1 74218172 74305175 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547735 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRRIQ3 HGDP01216 nsv1411 1 74243973 74271151 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7232 S 9 0 1 LRRIQ3 NA12156 esv272539 1 74244200 74244564 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579028 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271857 1 74244212 74244550 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546159,essv2542271,essv2536656,essv2576829,essv2544498,essv2547447,essv2529079,essv2553742,essv2554869,essv2557427,essv2557009,essv2550233,essv2527283,essv2543731,essv2556130,essv2562343,essv2529642,essv2560670,essv2530286,essv2568779,essv2545769,essv2574352,essv2537779,essv2525148,essv2558179 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA10851,NA11881,NA11919,NA11920,NA12154,NA12414,NA12717,NA12749,NA12763,NA12872,NA18499,NA18501,NA18511,NA18522,NA18870,NA18871,NA18909,NA19093,NA19116,NA19141,NA19147,NA19239,NA19240 dgv245n71 1 74257341 74484769 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871084,nsv871269,nsv871456,nsv871381 M 6533 4 0 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K SP51427,SP55835,SP56950,SP81265 nsv871527 1 74274065 74332590 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506405 S 6533 1 0 LRRIQ3 SP54299 esv272104 1 74297583 74297888 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506107,essv2505977,essv2498997,essv2502121 M 157 4 0 Samples from several populations that are part of the HapMap project. LRRIQ3 NA18523,NA18861,NA19114,NA19257 dgv246n71 1 74350906 74481950 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871630,nsv871909 M 6533 2 0 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K SP50117,SP54299 dgv247n71 1 74426770 74577421 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870554,nsv870486 M 6533 0 3 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K IS38572,MS15715,MS16677 nsv870852 1 74458652 74476346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514390 S 6533 0 1 FPGT-TNNI3K,TNNI3K SP56004 nsv523474 1 74471687 74566707 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699235 S 2026 0 1 FPGT-TNNI3K,TNNI3K nsv870653 1 74491166 74566466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500362 S 6533 0 1 FPGT-TNNI3K,TNNI3K SP50530 nsv871150 1 74507031 74594425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503674 S 6533 0 1 FPGT-TNNI3K,TNNI3K SP52094 nsv871467 1 74510185 74540432 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515008,nssv1518200,nssv1500252,nssv1513795,nssv1503330 M 6533 1 4 FPGT-TNNI3K,TNNI3K SP50137,SP52039,SP55847,SP56108,SP57472 dgv248n71 1 74510185 74541855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871188,nsv870585 M 6533 0 7 FPGT-TNNI3K,TNNI3K SP50077,SP51145,SP51167,SP53687,SP56004,SP56172,SP57197 dgv249n71 1 74510185 74554867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871795,nsv870951 M 6533 0 3 FPGT-TNNI3K,TNNI3K SP50128,SP51037,SP56301 esv6294 1 74519498 74519592 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28735 S 1 1 0 FPGT-TNNI3K,TNNI3K SJK esv2350476 1 74527555 74528078 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4930344 S 1 0 1 FPGT-TNNI3K,TNNI3K NA18507 esv4202 1 74527661 74527957 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26643 S 1 0 1 Single Asian sample YH FPGT-TNNI3K,TNNI3K YH esv1000471 1 74527756 74527876 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579269 S 3 0 1 FPGT-TNNI3K,TNNI3K HuRef esv1327381 1 74527758 74527879 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610332 S 2 0 1 FPGT-TNNI3K,TNNI3K HuRef nsv870654 1 74534786 74631312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584968 S 6533 0 1 FPGT-TNNI3K,TNNI3K IS37226 nsv461984 1 74577421 74647059 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538287 S 1557 0 1 FPGT-TNNI3K,TNNI3K NINDS_142 nsv820047 1 74607839 74608533 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419058 S 2 0 1 FPGT-TNNI3K,TNNI3K AK1 esv274525 1 74680982 74681402 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580734 S 7 1 0 Samples from several populations that are part of the HapMap project. FPGT-TNNI3K,TNNI3K NA19238 nsv830248 1 74734979 74917046 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447196 S 95 0 1 C1orf173,FPGT-TNNI3K,TNNI3K nsv525557 1 74750293 74764232 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701696 S 2026 0 1 FPGT-TNNI3K,TNNI3K nsv871900 1 74756423 74786783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504675 S 6533 0 1 FPGT-TNNI3K,TNNI3K SP52708 esv2549117 1 74756678 74758253 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369116 S 1 0 1 FPGT-TNNI3K,TNNI3K NA18507 esv1932816 1 74756934 74758046 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821137 S 1 0 1 FPGT-TNNI3K,TNNI3K NA18507 nsv870824 1 74791978 74898169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557674 S 6533 0 1 C1orf173 MS22798 nsv871239 1 74830174 74898169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583722,nssv1599912 M 6533 0 2 C1orf173 IS36640,IS41808 nsv830259 1 74861765 75013650 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447207 S 95 1 0 C1orf173,CRYZ,TYW3 nsv461995 1 74905730 74939211 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538296 S 1557 1 0 C1orf173 1780862074_A esv1982102 1 74909304 74909696 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4946556 S 1 0 1 C1orf173 NA18507 esv1344845 1 74909463 74909563 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226483 S 2 0 1 C1orf173 HuRef esv273989 1 74920552 74920738 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579000,essv2579653 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv267541 1 74920614 74920944 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571591,essv2521156,essv2525891,essv2556720,essv2568205,essv2577209,essv2548430,essv2521461,essv2535267,essv2554318,essv2544417,essv2547541,essv2558363,essv2577744,essv2559620,essv2528343,essv2520879,essv2544873,essv2523545,essv2541394,essv2540307,essv2564877,essv2534949,essv2561123,essv2539650,essv2549282,essv2519622,essv2560059,essv2521935,essv2565929,essv2531150,essv2532615,essv2567822,essv2528803,essv2567605,essv2569885,essv2563895,essv2553157,essv2535841,essv2559163,essv2578188,essv2572980,essv2533500,essv2555769,essv2566347,essv2530157,essv2573767,essv2527630,essv2557745,essv2556059,essv2522526,essv2573394,essv2543207,essv2572099,essv2525584,essv2526916,essv2536172,essv2538150,essv2549047,essv2533175 M 157 60 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA11840,NA11894,NA11918,NA11994,NA11995,NA12043,NA12045,NA12144,NA12249,NA12287,NA12414,NA12717,NA12750,NA12761,NA12776,NA12891,NA18498,NA18526,NA18537,NA18545,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18638,NA18940,NA18942,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18960,NA18964,NA18965,NA18973,NA18980,NA19005 nsv871152 1 74924774 74970121 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564222 S 6533 1 0 CRYZ IS30181 nsv509346 1 74963212 74977417 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617995 S 4 1 0 CRYZ,TYW3 CHM nsv1422 1 74968224 74970880 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4320 S 9 1 0 CRYZ NA12878 esv21668 1 74970760 74971244 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10394 S 451 1 0 CRYZ NA12828 nsv871743 1 75007670 75487142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564223 S 6533 1 0 LHX8,SLC44A5 IS30181 esv2422835 1 75047219 75049289 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162824 S 1 0 1 "" NA18507 esv274237 1 75074233 75074541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580579 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv267912 1 75074244 75074568 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565665,essv2571809,essv2536497,essv2544123,essv2576521,essv2550588,essv2535487,essv2576282,essv2537604,essv2528391,essv2546689,essv2557504,essv2544810,essv2539685,essv2549467,essv2519704,essv2531200,essv2563780,essv2535749,essv2529863,essv2531504,essv2547786,essv2563544 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA11829,NA11840,NA11920,NA11992,NA12154,NA12155,NA12249,NA12814,NA12878,NA12891,NA12892,NA18499,NA18526,NA18563,NA18564,NA18566,NA18573,NA18603,NA18608,NA18949,NA18961 esv269097 1 75160372 75160457 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516563 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv1433 1 75178403 75211188 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6674 S 9 1 0 "" NA12156 nsv521974 1 75222180 75222557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694115 S 2026 0 1 "" nsv823220 1 75246063 75256391 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426482 S 31 0 1 "" NA18592 nsv508293 1 75264005 75314203 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620133 S 4 0 1 "" NA15510 esv270565 1 75329724 75330061 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514573,essv2515709,essv2516087,essv2516875,essv2519082,essv2515190,essv2518849,essv2518248,essv2519492 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA12815,NA12873,NA12892,NA19141,NA19238,NA19239,NA19240 esv272506 1 75329729 75330056 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582830,essv2584338,essv2584640,essv2583741 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 nsv1444 1 75396262 75429316 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7244 S 9 1 0 LHX8 NA12156 esv2632878 1 75398857 75400331 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375534 S 1 0 1 LHX8 NA18507 esv1169956 1 75518418 75518418 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150752 S 2 1 0 SLC44A5 HuRef esv1320217 1 75518557 75518557 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871372 S 2 1 0 SLC44A5 HuRef nsv1455 1 75584965 75636770 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1206,nssv10042,nssv4340,nssv5652,nssv2191 M 9 0 5 SLC44A5 NA12878,NA18555,NA18956,NA19129,NA19240 nsv519329 1 75603026 76131179 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655463,nssv693180 M 2026 2 0 ACADM,MSH4,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C nsv508304 1 75611360 75630014 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618973,nssv620134,nssv617481,nssv622767 M 4 0 4 SLC44A5 CHM,NA10860,NA15510,NA18994 nsv435643 1 75613443 75621564 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466051 S 2 0 1 SLC44A5 NA15510 esv1008813 1 75614443 75626687 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564309 S 3 0 1 SLC44A5 HuRef nsv498673 1 75615356 75621732 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585385 S 9 0 1 SLC44A5 esv1527298 1 75615913 75621318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655324 S 2 0 1 SLC44A5 HuRef dgv60e1 1 75759492 75960336 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15895,esv715 M 271 0 0 SLC44A5 NA19223 nsv830270 1 75774808 75805744 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447218,nssv1447229,nssv1447240,nssv1447251,nssv1447262 M 95 0 5 SLC44A5 esv2613586 1 75783906 75785524 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347859 S 1 0 1 SLC44A5 NA18507 esv1954052 1 75784266 75784995 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812763 S 1 0 1 SLC44A5 NA18507 esv4835 1 75784304 75784934 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27276 S 1 0 1 Single Asian sample YH SLC44A5 YH esv1010081 1 75784453 75784782 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584778 S 3 0 1 SLC44A5 HuRef nsv159607 1 75784454 75784783 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178185 M 24 SLC44A5 esv7181 1 75784468 75784791 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29622 S 1 0 1 SLC44A5 SJK esv1700928 1 75784469 75784799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239670 S 2 0 1 SLC44A5 HuRef esv994396 1 75785040 75785348 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563879 S 3 0 1 SLC44A5 HuRef esv269022 1 75833945 75834030 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517461 S 157 1 0 Samples from several populations that are part of the HapMap project. SLC44A5 NA11918 nsv10284 1 75852543 75855368 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16770 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 dgv61e1 1 75855996 75929574 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7994,essv9523 M 271 0 0 "" NA19221,NA19223 nsv10295 1 75857994 75891880 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17100 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv870520 1 75860980 75979078 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553651 S 6533 0 1 ACADM MS20237 dgv4e55 1 75866822 75894326 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34562,esv34738 M 771 0 2 "" NA19221,NA19223 nsv830281 1 75867880 76023641 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447273 S 95 0 1 ACADM nsv10306 1 75891880 75901232 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17430 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv10317 1 75906355 75907919 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16423 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv871572 1 75934477 75981076 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509529 S 6533 1 0 ACADM SP54816 nsv1466 1 76053545 76072066 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7248 S 9 0 1 MSH4 NA12156 nsv871671 1 76076803 76164234 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507951 S 6533 0 1 ASB17,MSH4 SP54579 esv1918463 1 76105453 76105878 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4533638 S 1 0 1 MSH4 NA18507 esv2575184 1 76122788 76126062 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307801 S 1 0 1 MSH4 NA18507 esv1540402 1 76123913 76123913 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4261417 S 2 1 0 MSH4 HuRef esv1749246 1 76123920 76123920 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181343 S 2 1 0 MSH4 HuRef esv1103396 1 76124151 76124839 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618724 S 2 0 1 MSH4 HuRef esv2475692 1 76144261 76145402 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306904 S 1 1 0 MSH4 NA18507 esv2605515 1 76165074 76166137 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264746 S 1 1 0 ASB17 NA18507 esv269155 1 76165515 76165880 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507989,essv2502327,essv2510691,essv2496448,essv2493760,essv2495105,essv2503943,essv2511541 M 157 8 0 Samples from several populations that are part of the HapMap project. ASB17 NA07037,NA07346,NA12003,NA12004,NA18501,NA18510,NA18517,NA18964 nsv870968 1 76262822 76325063 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552999 S 6533 1 0 ST6GALNAC3 MS19685 nsv1477 1 76288551 76306927 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6683 S 9 0 1 "" NA12156 nsv521786 1 76298371 76308022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694554 S 2026 0 1 "" nsv871862 1 76298371 76370797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564112 S 6533 0 1 ST6GALNAC3 IS30171 nsv518927 1 76346202 76358860 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696392 S 2026 0 1 ST6GALNAC3 nsv522056 1 76346202 76370797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694827 S 2026 0 1 ST6GALNAC3 nsv1488 1 76360210 76405223 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7263 S 9 0 1 ST6GALNAC3 NA12156 esv28849 1 76383308 76386505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16389 S 451 0 1 ST6GALNAC3 NA18907 nsv870621 1 76392901 76769659 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553000 S 6533 1 0 ST6GALNAC3 MS19685 nsv523526 1 76467944 76493752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699300 S 2026 0 1 ST6GALNAC3 nsv1499 1 76477569 76522276 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5659 S 9 0 1 ST6GALNAC3 NA19129 esv2108639 1 76515638 76516075 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643097 S 1 0 1 ST6GALNAC3 NA18507 nsv462006 1 76598867 76814993 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538305 S 1557 0 1 ST6GALNAC3 1780862125_A esv274979 1 76672052 76677940 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585566 S 1250 0 1 ST6GALNAC3 dgv52n67 1 76673246 76675916 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823242,nsv823231 M 31 0 2 ST6GALNAC3 NA18537,NA18947 nsv462017 1 76712744 76755033 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538312 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ST6GALNAC3 HGDP00274 nsv462028 1 76720632 76749110 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538318 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ST6GALNAC3 HGDP00307 nsv470718 1 76720632 76792185 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547738,nssv547737,nssv547736 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ST6GALNAC3 HGDP00290,HGDP00315,HGDP00326 dgv20n27 1 76720632 76792574 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462073,nsv462050,nsv462039,nsv462062 M 1557 0 4 ST6GALNAC3 HGDP00286,HGDP00290,HGDP00315,HGDP00326 nsv526433 1 76803352 77040803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702736 S 2026 0 1 ST6GALNAC3 nsv508315 1 76812673 76907318 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618974 S 4 0 1 ST6GALNAC3 NA10860 esv2437446 1 76872444 76874045 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315539 S 1 0 1 "" NA18507 esv2414305 1 76872769 76873437 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514077 S 1 0 1 "" NA18507 esv1003900 1 76872954 76873236 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581003 S 3 0 1 "" HuRef esv1721845 1 76872963 76873246 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323927 S 2 0 1 "" HuRef nsv870909 1 76877361 76967752 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553001 S 6533 1 0 "" MS19685 esv23112 1 76878796 76884893 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18334 S 451 0 3 "" NA06985,NA18511,NA19108 esv2647937 1 76884027 76885579 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330535 S 1 0 1 "" NA18507 esv2151586 1 76884574 76885065 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741240 S 1 0 1 "" NA18507 esv1061888 1 76884728 76884850 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268777 S 2 0 1 "" HuRef nsv462084 1 76916769 76949777 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538338 S 1557 0 1 "" NINDS_130 nsv525417 1 76926907 76936481 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701541 S 2026 0 1 "" nsv520575 1 76939403 76968620 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681294,nssv686480,nssv683796,nssv672724,nssv679416,nssv690063 M 2026 6 0 "" nsv508019 1 76948085 76954085 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622291,nssv624213,nssv621470 M 4 0 3 "" NA10860,NA15510,NA18994 nsv521661 1 76969606 76986588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698278 S 2026 0 1 "" dgv62e1 1 77011006 77075473 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19070,esv1232 M 271 0 0 "" NA11830 nsv10328 1 77016419 77065885 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12757 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 esv271589 1 77037643 77037799 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2527176,essv2561306,essv2530255,essv2551482 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA18523,NA19141,NA19257 nsv159626 1 77070546 77077991 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178204 M 24 "" nsv1510 1 77077208 77111461 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7272 S 9 1 0 ST6GALNAC5 NA12156 esv1425749 1 77078020 77078020 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209546 S 2 1 0 "" HuRef nsv160844 1 77078021 77078021 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179422 M 24 "" nsv820187 1 77104310 77107021 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419468 S 2 1 0 ST6GALNAC5 AK1 nsv871501 1 77155423 77216855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506300 S 6533 0 1 ST6GALNAC5 SP54189 nsv830292 1 77198159 77356895 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447284 S 95 0 1 PIGK,ST6GALNAC5 esv259552 1 77248884 77249418 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394021,essv2394329 M 6 0 0 Samples from several populations that are part of the HapMap project. ST6GALNAC5 NA19239,NA19240 esv259864 1 77248895 77249431 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398590,essv2395849,essv2396540,essv2397539,essv2400925,essv2394475,essv2396672,essv2398659,essv2396288,essv2399717,essv2394735,essv2397653,essv2399907,essv2397810,essv2396595,essv2400648,essv2397453,essv2396151,essv2394935,essv2398402,essv2399877,essv2399577,essv2395060,essv2400602,essv2400414,essv2395546,essv2398959,essv2399925,essv2399419,essv2394621,essv2398225,essv2400007,essv2395861,essv2398149,essv2397103,essv2394540,essv2398302,essv2399277,essv2395187,essv2399498,essv2398023,essv2398123,essv2397055,essv2400549 M 144 0 0 Samples from several populations that are part of the HapMap project. ST6GALNAC5 NA10847,NA11830,NA11919,NA11992,NA11993,NA12045,NA12414,NA12489,NA12716,NA12828,NA18498,NA18502,NA18504,NA18505,NA18507,NA18510,NA18520,NA18523,NA18545,NA18552,NA18561,NA18570,NA18571,NA18576,NA18592,NA18593,NA18603,NA18856,NA18858,NA18870,NA18909,NA18940,NA18945,NA18949,NA18951,NA18959,NA19093,NA19102,NA19108,NA19137,NA19147,NA19172,NA19239,NA19240 esv2500895 1 77350217 77351182 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317534 S 1 1 0 PIGK NA18507 esv272308 1 77350482 77350753 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580371 S 7 1 0 Samples from several populations that are part of the HapMap project. PIGK NA12891 esv271361 1 77350483 77350825 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548613,essv2550312,essv2535407,essv2552235,essv2577760,essv2559759,essv2540159,essv2520777,essv2557442,essv2551708,essv2569506,essv2578632,essv2558728,essv2527048,essv2565200,essv2563670,essv2559217,essv2566975,essv2541913,essv2550910,essv2543696,essv2529705,essv2538664,essv2574680,essv2568745,essv2545169,essv2560183,essv2545722,essv2549085 M 157 29 0 Samples from several populations that are part of the HapMap project. PIGK NA07037,NA12045,NA12234,NA12249,NA12489,NA12761,NA12776,NA18489,NA18498,NA18499,NA18504,NA18508,NA18510,NA18516,NA18522,NA18558,NA18603,NA18638,NA18853,NA18856,NA18858,NA18870,NA19093,NA19108,NA19138,NA19147,NA19172,NA19190,NA19239 nsv520629 1 77357434 77468442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697526 S 2026 0 1 PIGK esv271271 1 77406883 77407180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548602,essv2550433,essv2534962,essv2577916,essv2559580,essv2540214,essv2557385,essv2557161,essv2552461,essv2551871,essv2532186,essv2562566,essv2569441,essv2578626,essv2537052,essv2539209,essv2527151,essv2561667,essv2565017,essv2559898,essv2563562,essv2559190,essv2566962,essv2541951,essv2551165,essv2543652,essv2556255,essv2528042,essv2529574,essv2575283,essv2538503,essv2574626,essv2572745,essv2568462,essv2545108,essv2560347,essv2548071,essv2571465,essv2545919,essv2548931 M 157 40 0 Samples from several populations that are part of the HapMap project. PIGK NA07037,NA12045,NA12234,NA12249,NA12761,NA12776,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18519,NA18522,NA18523,NA18558,NA18570,NA18603,NA18638,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA19093,NA19102,NA19108,NA19138,NA19143,NA19147,NA19172,NA19190,NA19210,NA19238,NA19239 esv273566 1 77406886 77407227 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580123,essv2580441,essv2579980 M 7 3 0 Samples from several populations that are part of the HapMap project. PIGK NA12878,NA12891,NA12892 nsv525188 1 77428239 77468442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701266 S 2026 0 1 PIGK esv272326 1 77537552 77537644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581746,essv2582464,essv2584170 M 7 3 0 Samples from several populations that are part of the HapMap project. AK5 NA12878,NA12891,NA19238 esv270640 1 77537552 77537841 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576076,essv2540889,essv2521108,essv2542485,essv2545263,essv2523134,essv2531681,essv2577233,essv2570413,essv2576863,essv2544370,essv2520364,essv2564325,essv2561920,essv2537187,essv2528252,essv2558855,essv2539094,essv2540546,essv2539896,essv2528654,essv2566705,essv2528092,essv2573892,essv2534297,essv2577149,essv2568736,essv2571366,essv2535998 M 157 29 0 Samples from several populations that are part of the HapMap project. AK5 NA06986,NA11830,NA11831,NA11894,NA11919,NA12003,NA12004,NA12006,NA12043,NA12044,NA12154,NA12414,NA12716,NA12751,NA12874,NA12878,NA12891,NA18516,NA18519,NA18552,NA18563,NA18579,NA18853,NA18907,NA18951,NA18959,NA18970,NA19147,NA19238 nsv517088 1 77547001 77551196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681619,nssv653765,nssv671217,nssv656535 M 2026 0 4 AK5 nsv818234 1 77547001 77551196 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418348 S 112 0 1 AK5 NA19141 nsv470719 1 77547001 78041795 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547739 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AK5,FAM73A,USP33,ZZZ3 HGDP00468 esv22538 1 77547332 77554042 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11859 S 451 0 1 AK5 NA18523 nsv441697 1 77547460 77552420 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 AK5 essv9537 1 77547602 77552424 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. AK5 NA18861 dgv63e1 1 77547602 77561050 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9513,esv1229 M 271 0 0 AK5 NA18521 nsv1522 1 77579422 77613896 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2983 S 9 1 0 AK5 NA18555 nsv823254 1 77604106 77605088 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425506 S 31 0 1 AK5 AK4 esv9520 1 77605437 77606256 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31961 S 1 0 0 AK5 SJK nsv871605 1 77662093 77690935 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519636 S 6533 0 1 AK5 SP50101 nsv521371 1 77672228 77685557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697980 S 2026 0 1 AK5 nsv462095 1 77676199 77724048 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538348 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AK5 HGDP01164 esv1440178 1 77682551 77682615 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855713 S 2 0 1 AK5 HuRef esv1179842 1 77713671 77713747 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775628 S 2 0 1 AK5 HuRef nsv871143 1 77728165 77804582 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535998 S 6533 1 0 AK5,ZZZ3 MS12577 nsv1533 1 77763092 77808867 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6692 S 9 0 1 AK5,ZZZ3 NA12156 nsv870709 1 77789105 77970910 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532633 S 6533 0 1 AK5,USP33,ZZZ3 MS10802 esv268641 1 77794291 77794376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516955 S 157 1 0 Samples from several populations that are part of the HapMap project. AK5 NA11931 nsv830303 1 77863412 78081353 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447296 S 95 0 1 FAM73A,USP33,ZZZ3 nsv508326 1 77956967 78006835 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618975 S 4 0 1 USP33 NA10860 esv2329300 1 78126023 78126440 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613924 S 1 0 1 "" NA18507 nsv518855 1 78189257 78228943 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694281 S 2026 0 1 FUBP1 nsv870608 1 78293410 78366874 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532874 S 6533 1 0 GIPC2 MS10897 esv1010689 1 78299892 78300007 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575542 S 3 0 1 GIPC2 HuRef esv1368582 1 78299900 78300016 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047242 S 2 0 1 GIPC2 HuRef nsv871835 1 78301391 79273717 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512805 S 6533 1 0 ELTD1,GIPC2,IFI44,IFI44L,MGC27382,PTGFR SP55630 nsv159417 1 78351625 78351803 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177995 M 24 GIPC2 esv271958 1 78379624 78379951 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526048,essv2536437,essv2522657,essv2570467,essv2548489,essv2534981,essv2554136,essv2558425,essv2553744,essv2564190,essv2530725,essv2537319,essv2528637,essv2551838,essv2561398,essv2544759,essv2523851,essv2552969,essv2541404,essv2542753,essv2540667,essv2565110,essv2534839,essv2561133,essv2539526,essv2549202,essv2519857,essv2560129,essv2521955,essv2566023,essv2531038,essv2532520,essv2568058,essv2541518,essv2570217,essv2563701,essv2553176,essv2572270,essv2559108,essv2543435,essv2562384,essv2534067,essv2578230,essv2573082,essv2555390,essv2533771,essv2555496,essv2567062,essv2566342,essv2529999,essv2574028,essv2527563,essv2534443,essv2531364,essv2573475,essv2543218,essv2573286,essv2572063,essv2525687,essv2575429,essv2538742,essv2560248,essv2545765,essv2574229,essv2551551,essv2548981,essv2554507,essv2525027 M 157 68 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA07357,NA11918,NA11920,NA11931,NA12044,NA12045,NA12249,NA12287,NA12750,NA12763,NA12828,NA12873,NA12878,NA12891,NA18504,NA18523,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18870,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18959,NA18961,NA18964,NA18965,NA18969,NA18973,NA18980,NA19099,NA19108,NA19190,NA19239,NA19240,NA19257 esv273847 1 78379631 78379956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581860,essv2582369,essv2584610,essv2583287 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 nsv520237 1 78411832 78432711 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662070,nssv673864 M 2026 0 2 "" nsv1544 1 78421079 78433560 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4351 S 9 0 1 "" NA12878 esv28303 1 78421767 78424207 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17203 S 451 0 8 "" NA12828,NA12878,NA18502,NA18508,NA18511,NA18858,NA19099,NA19114 nsv819341 1 78421855 78432177 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418594 S 2 0 1 "" AK1 nsv823265 1 78422267 78424372 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425508 S 31 0 1 "" AK4 nsv513992 1 78422464 78423912 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627241 S 1414 0 1 "" nsv1555 1 78567553 78578876 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9519 S 9 1 0 MGC27382 NA18507 esv23037 1 78606682 78608443 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9802 S 451 0 2 MGC27382 NA18916,NA19225 nsv870807 1 78639935 78805186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563306 S 6533 0 1 PTGFR MS25963 esv1005505 1 78714819 78714819 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583692 S 3 1 0 "" HuRef esv1654262 1 78714820 78714820 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961681 S 2 1 0 "" HuRef nsv1566 1 78725133 78733416 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5669 S 9 1 0 PTGFR NA19129 nsv871260 1 78730447 78749158 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519763 S 6533 1 0 PTGFR SP50544 nsv871959 1 78764767 78772384 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519764 S 6533 1 0 PTGFR SP50544 nsv870919 1 78766429 78783258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523830 S 6533 0 1 PTGFR SP54223 esv2376136 1 78770538 78770905 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4984931 S 1 0 1 PTGFR NA18507 esv1614956 1 78770744 78770806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251489 S 2 0 1 PTGFR HuRef nsv830315 1 78781031 78973179 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447340,nssv1447307,nssv1447318,nssv1447329 M 95 4 0 IFI44,IFI44L nsv1577 1 78785899 78831163 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5680 S 9 0 1 "" NA19129 nsv871140 1 78868169 78927722 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500317 S 6533 1 0 IFI44,IFI44L SP50107 esv274113 1 78881399 78881560 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579010 S 7 1 0 Samples from several populations that are part of the HapMap project. IFI44L NA19239 esv267842 1 78881402 78881549 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546160,essv2526033,essv2523326,essv2531718,essv2554218,essv2559722,essv2520260,essv2537199,essv2528475,essv2546984,essv2523717,essv2553017,essv2524399,essv2565085,essv2534834,essv2519653,essv2567453,essv2534455,essv2531509,essv2525806,essv2549032 M 157 21 0 Samples from several populations that are part of the HapMap project. IFI44L NA07037,NA11881,NA11918,NA12004,NA12006,NA12287,NA12776,NA12815,NA12878,NA12891,NA12892,NA18537,NA18542,NA18555,NA18558,NA18561,NA18566,NA18582,NA18959,NA18961,NA18980 nsv871588 1 78937489 78987077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533330 S 6533 0 1 "" MS11105 nsv526221 1 78970212 79259668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702486 S 2026 0 1 ELTD1 nsv871700 1 79097804 79122952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517955 S 6533 0 1 "" SP57418 esv271648 1 79103761 79103846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519317,essv2517433,essv2514327,essv2517602,essv2513592 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11894,NA11918,NA12874,NA12878 esv274013 1 79103761 79103846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581481 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv250n71 1 79126243 79244547 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871089,nsv871564 M 6533 0 2 ELTD1 IS36656,IS37103 esv21924 1 79166231 79170324 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18381,esv10447 M 451 0 3 ELTD1 NA18907,NA18909,NA19108 esv2551231 1 79173924 79175231 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330250 S 1 0 1 ELTD1 NA18507 esv2156352 1 79173925 79174619 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757073 S 1 0 1 ELTD1 NA18507 esv4207 1 79174011 79174513 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26648 S 1 0 1 Single Asian sample YH ELTD1 YH esv1001130 1 79174098 79174419 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568205 S 3 0 1 ELTD1 HuRef esv9047 1 79174117 79174416 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31488 S 1 0 1 ELTD1 SJK dgv251n71 1 79175923 79293142 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871276,nsv871525 M 6533 0 3 ELTD1 IS34962,IS35771,MS10802 nsv871613 1 79180568 79244547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597593,nssv1569024,nssv1541082 M 6533 0 3 ELTD1 IS31401,IS41068,MS15199 nsv528328 1 79184352 79184996 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704910 S 2026 0 1 ELTD1 nsv470720 1 79184352 79263794 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547740 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ELTD1 HGDP01061 dgv252n71 1 79193079 79273717 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871645,nsv870769 M 6533 0 2 ELTD1 IS41867,MS19808 nsv462139 1 79244547 79292015 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538380 S 1557 0 1 ELTD1 1782681195_A nsv522014 1 79256875 79257304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694783 S 2026 0 1 "" esv34074 1 79286032 79358240 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 "" esv2451306 1 79327526 79328862 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312727 S 1 0 1 "" NA18507 nsv830326 1 79345967 79508255 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447351 S 95 1 0 "" esv2593633 1 79354276 79355213 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346379 S 1 1 0 "" NA18507 esv271964 1 79354646 79354973 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575875,essv2540916,essv2571829,essv2546319,essv2521390,essv2525842,essv2542348,essv2536716,essv2556735,essv2568090,essv2545410,essv2523205,essv2531897,essv2577405,essv2570496,essv2548547,essv2521809,essv2576670,essv2550605,essv2525436,essv2550263,essv2535415,essv2544316,essv2552297,essv2520600,essv2547490,essv2558509,essv2564636,essv2577796,essv2553664,essv2559552,essv2576440,essv2519970,essv2564207,essv2554960,essv2530861,essv2537530,essv2528476,essv2546823,essv2540108,essv2520872,essv2557033,essv2551868,essv2532043,essv2562715,essv2569208,essv2578620,essv2550198,essv2558942,essv2536811,essv2527378,essv2561714,essv2544934,essv2562838,essv2523489,essv2553091,essv2541357,essv2538189,essv2542771,essv2540287,essv2524482,essv2565193,essv2534904,essv2560997,essv2539586,essv2549157,essv2519564,essv2559989,essv2522055,essv2565992,essv2532898,essv2567830,essv2528823,essv2567322,essv2541629,essv2570155,essv2563930,essv2553464,essv2535855,essv2572436,essv2559067,essv2566966,essv2541926,essv2569144,essv2543604,essv2556211,essv2527761,essv2562486,essv2539442,essv2534024,essv2578299,essv2573099,essv2555364,essv2533483,essv2566621,essv2530028,essv2573780,essv2527595,essv2534184,essv2522326,essv2531522,essv2573361,essv2543330,essv2577015,essv2525743,essv2529761,essv2575708,essv2575235,essv2538559,essv2526545,essv2560715,essv2560905,essv2574540,essv2572658,essv2568801,essv2545173,essv2571370,essv2546041,essv2574218,essv2551563,essv2536352,essv2538106,essv2548924,essv2554632,essv2525068,essv2563207,essv2557857 M 157 127 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12872,NA12873,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18948,NA18949,NA18951,NA18952,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19137,NA19138,NA19143,NA19147,NA19172,NA19238,NA19239,NA19240,NA19257 esv272221 1 79354647 79354974 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581852,essv2582628,essv2583232,essv2584026,essv2584842,essv2583444 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1600149 1 79354670 79354670 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769417 S 2 1 0 "" HuRef nsv871182 1 79387577 79595323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552559,nssv1599765,nssv1599921 M 6533 0 3 "" IS41786,IS41809,MS19489 nsv818245 1 79405655 79409914 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418129,nssv1418128 M 112 0 2 "" NA19143,NA19144 esv259644 1 79422633 79422960 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394207,essv2393953,essv2393791,essv2393636,essv2394059,essv2394323 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv260023 1 79422640 79422970 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396072,essv2396726,essv2400306,essv2398501,essv2401116,essv2398893,essv2395793,essv2399405,essv2396662,essv2398649,essv2400764,essv2399707,essv2397309,essv2401085,essv2396951,essv2395658,essv2397636,essv2399252,essv2396619,essv2400687,essv2396313,essv2395490,essv2397406,essv2395057,essv2397866,essv2396863,essv2398816,essv2400427,essv2400141,essv2399144,essv2396849,essv2394668,essv2395309,essv2394884,essv2395880,essv2397496,essv2400826,essv2397726,essv2399643,essv2394594,essv2398727,essv2398285,essv2399808,essv2396385,essv2397241,essv2395973,essv2397062,essv2400514 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11831,NA11881,NA11894,NA11931,NA11995,NA12004,NA12287,NA12414,NA12489,NA12717,NA12828,NA12878,NA12891,NA12892,NA18501,NA18502,NA18508,NA18526,NA18542,NA18558,NA18563,NA18566,NA18571,NA18577,NA18579,NA18582,NA18592,NA18608,NA18609,NA18638,NA18870,NA18916,NA18942,NA18945,NA18947,NA18952,NA18956,NA18964,NA18965,NA19005,NA19093,NA19129,NA19138,NA19225,NA19238,NA19239,NA19240 nsv870657 1 79473808 79663362 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556240 S 6533 0 1 "" MS21868 nsv870962 1 79527773 79607654 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598224,nssv1594157,nssv1567378 M 6533 0 3 "" IS31074,IS39718,IS41043 esv2586442 1 79554114 79556795 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352773 S 1 0 1 "" NA18507 nsv1588 1 79558188 79592305 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1215 S 9 1 0 "" NA19240 nsv830337 1 79564467 79685829 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447362 S 95 1 0 "" nsv871649 1 79580035 79696763 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598093 S 6533 1 0 "" IS41340 dgv21n27 1 79607654 79649623 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462150,nsv462161,nsv462173 M 1557 0 3 "" HGDP00461,HGDP00472,HGDP00479 nsv470721 1 79607654 79649623 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547744,nssv547747,nssv547746,nssv547742,nssv547743,nssv547741 M 443 0 6 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00448,HGDP00453,HGDP00461,HGDP00472,HGDP00479,HGDP01086 nsv1599 1 79694791 79722938 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4361 S 9 1 0 "" NA12878 esv2460745 1 79744283 79745677 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233490 S 1 0 1 "" NA18507 nsv871566 1 79767219 81171027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520039 S 6533 0 1 "" SP50660 nsv508337 1 79800567 79805048 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622768 S 4 0 1 "" NA18994 esv2114150 1 79809484 79809888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604602 S 1 0 1 "" NA18507 esv2750840 1 79841670 81616474 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980803,essv6989199,essv6980804,essv6987852,essv6987853 M 771 0 1 "" BEC_175 nsv159019 1 79866149 79873901 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177597 M 24 "" esv2009346 1 79886581 79887277 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862067 S 1 0 1 "" NA18507 esv3566 1 79886680 79887133 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26007 S 1 0 1 Single Asian sample YH "" YH esv23928 1 79992526 79995969 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11006,esv10473,esv15070 M 451 22 4 "" NA07037,NA11894,NA11993,NA12004,NA12414,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821482 1 79993560 79995969 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420403 S 1 0 1 "" NA10851 esv2520659 1 79993633 79996331 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208274 S 1 0 1 "" NA18507 nsv511158 1 79993655 79998425 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626088 S 1 0 1 "" 1 nsv511700 1 79994274 79995881 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626340 S 1 0 1 "" 1 esv1505227 1 79994370 79995618 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234788 S 2 0 1 "" HuRef esv1005433 1 79994370 79996012 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563497 S 3 0 1 "" HuRef nsv160393 1 79994371 79995618 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178971 M 24 "" dgv253n71 1 79999498 80049860 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870518,nsv871792 M 6533 0 3 "" MS15779,MS15871,MS19858 nsv823276 1 80017603 80018243 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439466 S 31 1 0 "" NA18537 esv259463 1 80043637 80043903 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394215,essv2393686,essv2394002,essv2394334 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19239,NA19240 esv999819 1 80043743 80043743 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567514 S 3 1 0 "" HuRef esv1201403 1 80043744 80043744 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139564 S 2 1 0 "" HuRef nsv160493 1 80043745 80043745 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179071 M 24 "" nsv823287 1 80061326 80061850 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431817 S 31 1 0 "" AK20 nsv462184 1 80070538 80504156 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538407 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01308 nsv823298 1 80071288 80072673 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437948 S 31 1 0 "" NA18951 esv269984 1 80071673 80071963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576046,essv2540965,essv2571789,essv2536603,essv2570831,essv2556616,essv2545441,essv2523440,essv2570590,essv2548473,essv2550396,essv2554204,essv2552066,essv2520613,essv2547462,essv2564485,essv2578036,essv2559441,essv2565504,essv2537415,essv2528210,essv2547064,essv2556895,essv2552463,essv2536895,essv2532718,essv2541542,essv2530056,essv2573628,essv2575121,essv2526653,essv2574660,essv2536356,essv2537930,essv2533145,essv2554619,essv2557945 M 157 37 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA10851,NA11830,NA11831,NA11840,NA11920,NA11993,NA11994,NA12003,NA12004,NA12044,NA12045,NA12234,NA12287,NA12489,NA12716,NA12717,NA12751,NA12761,NA12776,NA12812,NA12878,NA12891,NA12892,NA18501,NA18502,NA18517,NA18576,NA18592,NA18949,NA18964,NA19102,NA19114,NA19138 esv272639 1 80071673 80071963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582149,essv2582462,essv2582970 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1217028 1 80071684 80071684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029994 S 2 1 0 "" HuRef esv34144 1 80093606 80345333 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 "" nsv871076 1 80192995 80329403 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546042 S 6533 0 1 "" MS17114 dgv254n71 1 80228322 80329403 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871474,nsv871739 M 6533 0 3 "" MS10802,MS13426,MS20872 dgv255n71 1 80250468 80314666 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871192,nsv871158 M 6533 0 2 "" IS39011,MS17611 dgv256n71 1 80250468 80335888 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871251,nsv871577,nsv871935,nsv871661 M 6533 0 14 "" IS31054,IS31067,IS31123,IS31205,IS31225,IS31259,IS31306,IS31728,IS31729,IS32607,IS35229,IS38263,IS39119,IS41068 nsv462195 1 80256562 80329403 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538416 S 1557 0 1 "" 1787431198_A dgv257n71 1 80258935 80435486 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871009,nsv870523,nsv871492,nsv871201 M 6533 0 4 "" IS31765,IS39243,IS40067,MS20346 nsv871759 1 80287294 80329403 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569772,nssv1542168,nssv1569183,nssv1569632,nssv1567415,nssv1594158,nssv1566879,nssv1584388,nssv1532135,nssv1551262,nssv1566327,nssv1532028,nssv1597053,nssv1565636 M 6533 1 13 "" IS30490,IS30667,IS30969,IS31081,IS31543,IS31652,IS31706,IS36981,IS39718,IS40728,MS10699,MS10727,MS15704,MS18847 dgv258n71 1 80287294 80335888 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871108,nsv871409 M 6533 0 4 "" IS31401,IS31758,IS35743,SP50120 nsv870712 1 80289812 80320023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500046 S 6533 0 1 "" SP50144 nsv462206 1 80305026 80329403 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538426 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00241 nsv462217 1 80309386 80456194 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538434 S 1557 0 1 "" 1780854449_A nsv462261 1 80310777 80361254 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538471 S 1557 0 1 "" 1780862014_A nsv520795 1 80314666 80329403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697615 S 2026 0 1 "" esv1005034 1 80317844 80317844 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570928 S 3 1 0 "" HuRef esv1023572 1 80317845 80317845 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3824088 S 2 1 0 "" HuRef nsv519190 1 80329403 80335888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696673 S 2026 0 1 "" nsv528189 1 80385803 80403819 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704746 S 2026 0 1 "" nsv1610 1 80389617 80421976 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10061 S 9 1 0 "" NA18956 nsv871859 1 80524871 80680736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562466 S 6533 0 1 "" MS25617 esv2529101 1 80545755 80546785 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219877 S 1 1 0 "" NA18507 esv26646 1 80565011 80569483 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13969,esv10608 M 451 0 2 "" NA12044,NA19240 esv5636 1 80567411 80567699 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28077 S 1 0 0 "" SJK esv1382758 1 80567538 80567614 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206808 S 2 0 1 "" HuRef nsv871451 1 80587322 80680736 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547205 S 6533 1 0 "" MS17232 nsv462272 1 80611866 80682005 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538482 S 1557 0 1 "" 1780862001_A nsv871650 1 80690114 80767681 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579227 S 6533 0 1 "" IS35073 esv2285809 1 80726437 80726845 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4978871 S 1 0 1 "" NA18507 nsv871193 1 80743566 80829534 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552814 S 6533 0 1 "" MS19634 dgv259n71 1 80769558 80859763 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871382,nsv871092,nsv871285 M 6533 0 3 "" IS33129,IS33507,IS34962 nsv871748 1 80769558 81102353 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566840 S 6533 0 1 "" IS30953 esv269025 1 80776759 80776881 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496472,essv2493591,essv2509250,essv2501931,essv2497980 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18517,NA18909,NA19239,NA19240 esv272409 1 80776778 80776971 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584784,essv2583348 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269465 1 80780609 80780896 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496582,essv2507339,essv2510393 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18912,NA19172 nsv870680 1 80801767 80853129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517710 S 6533 0 1 "" SP57367 esv2445324 1 80891453 80892960 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174863 S 1 0 1 "" NA18507 nsv524609 1 80891475 80906204 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700570 S 2026 0 1 "" nsv1621 1 80900479 80946481 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6701 S 9 0 1 "" NA12156 dgv260n71 1 80934469 81054761 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871060,nsv871713 M 6533 2 0 "" IS36320,IS41824 nsv525106 1 80944529 80950113 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701166 S 2026 0 1 "" nsv1633 1 80945264 80978295 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5681 S 9 1 0 "" NA19129 esv2645795 1 80966095 80967710 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375379 S 1 0 1 "" NA18507 esv2349812 1 80966739 80967454 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528381 S 1 0 1 "" NA18507 esv5102 1 80966882 80967355 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27543 S 1 0 1 Single Asian sample YH "" YH esv6371 1 80966942 80967257 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28812 S 1 0 1 "" SJK nsv871780 1 80999733 81060413 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572289 S 6533 1 0 "" IS32918 nsv870943 1 81008024 81149896 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591627 S 6533 0 1 "" IS39011 nsv517432 1 81038591 81052898 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687378,nssv672040,nssv660578,nssv665658,nssv664969,nssv652005,nssv689281,nssv664519,nssv670848,nssv683577 M 2026 0 10 "" dgv261n71 1 81038591 81137217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870640,nsv870458 M 6533 0 2 "" IS33763,IS41113 nsv871836 1 81048766 81114482 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557782 S 6533 0 1 "" MS22863 esv274092 1 81123956 81124269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580974,essv2579305 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv267414 1 81124100 81124253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541034,essv2546294,essv2521209,essv2536498,essv2523389,essv2548396,essv2525228,essv2550435,essv2535210,essv2552279,essv2520333,essv2558426,essv2564606,essv2576284,essv2557157,essv2569573,essv2536876,essv2538906,essv2561725,essv2544889,essv2523539,essv2552993,essv2561087,essv2560141,essv2522231,essv2568038,essv2528972,essv2541462,essv2563691,essv2535812,essv2543673,essv2527924,essv2573261,essv2567136,essv2566458,essv2529910,essv2573931,essv2534207,essv2522576,essv2573673,essv2543229,essv2577100,essv2571877,essv2526481,essv2572666,essv2571272,essv2536284,essv2537844,essv2548803,essv2548023 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07347,NA11831,NA11881,NA11894,NA11920,NA12004,NA12045,NA12156,NA12234,NA12249,NA12489,NA12716,NA12750,NA12751,NA12814,NA18501,NA18508,NA18517,NA18519,NA18523,NA18526,NA18537,NA18542,NA18562,NA18570,NA18571,NA18577,NA18579,NA18592,NA18603,NA18608,NA18870,NA18907,NA18942,NA18947,NA18948,NA18949,NA18951,NA18959,NA18960,NA18964,NA18965,NA18970,NA18973,NA19114,NA19143,NA19238 nsv160614 1 81124117 81124117 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179192 M 24 "" nsv1644 1 81154388 81208313 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4371,nssv10068,nssv1223,nssv6710 M 9 0 4 "" NA12156,NA12878,NA18956,NA19240 nsv524462 1 81158977 81159513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700396 S 2026 0 1 "" nsv511150 1 81173702 81176348 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625999 S 1 0 1 "" 1 nsv511701 1 81175416 81183746 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626341 S 1 0 1 "" 1 esv29461 1 81175548 81190695 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15779,esv19464 M 451 7 0 "" NA07045,NA11931,NA11993,NA12749,NA18517,NA18916,NA19129 nsv436529 1 81175575 81183857 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466062 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv508348 1 81176080 81220990 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618977,nssv617489 M 4 0 2 "" CHM,NA10860 nsv510913 1 81176080 81220990 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621651 S 4 0 0 "" NA15510 esv2486529 1 81176645 81184206 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195261 S 1 0 1 "" NA18507 esv1009096 1 81177219 81183720 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564372 S 3 0 1 "" HuRef esv2130910 1 81177231 81183739 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881939 S 1 0 1 "" NA18507 esv3369 1 81177315 81183618 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25810 S 1 0 1 Single Asian sample YH "" YH nsv506936 1 81180757 81186757 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619237 S 4 1 0 "" NA10860 nsv871865 1 81183613 81703366 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510571 S 6533 1 0 "" SP54967 nsv823309 1 81194858 81197013 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431818 S 31 0 1 "" AK20 nsv830348 1 81222392 81368986 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447373 S 95 0 1 "" esv2439392 1 81296115 81297104 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359938 S 1 1 0 "" NA18507 esv267558 1 81296685 81297021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571592,essv2546557,essv2542389,essv2543978,essv2556641,essv2545326,essv2523358,essv2577235,essv2570540,essv2576693,essv2520564,essv2547266,essv2577706,essv2565409,essv2576372,essv2520135,essv2554841,essv2530756,essv2561861,essv2537561,essv2528613,essv2546993,essv2562553,essv2578676,essv2550053,essv2539125,essv2565140,essv2565948,essv2563903,essv2556300,essv2527757,essv2533465,essv2575484,essv2524189,essv2574858,essv2568735,essv2545220,essv2535987,essv2548649,essv2554516,essv2547904,essv2525039,essv2563465,essv2558195 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07347,NA07357,NA10847,NA10851,NA11840,NA11881,NA11919,NA11992,NA11994,NA12003,NA12004,NA12043,NA12044,NA12154,NA12716,NA12717,NA12761,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18507,NA18510,NA18511,NA18519,NA18558,NA18572,NA18603,NA18871,NA18907,NA18944,NA19099,NA19129,NA19138,NA19147,NA19172 esv274652 1 81296685 81297021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582015,essv2582595,essv2582859 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv1655 1 81303675 81348642 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7298 S 9 0 1 "" NA12156 nsv871418 1 81382452 81450354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551141 S 6533 0 1 "" MS18799 esv2610232 1 81432221 81434137 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314723 S 1 0 0 "" NA18507 esv8074 1 81433113 81433960 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30515 S 1 0 0 "" SJK esv2474555 1 81459728 81461345 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212380 S 1 0 1 "" NA18507 esv1916717 1 81460188 81460900 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539958 S 1 0 1 "" NA18507 esv3207 1 81460296 81460876 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25648 S 1 0 1 Single Asian sample YH "" YH nsv159917 1 81460373 81460701 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178495 M 24 "" esv7669 1 81460387 81460700 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30110 S 1 0 1 "" SJK nsv518182 1 81589073 81597713 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695603 S 2026 0 1 "" nsv1666 1 81616518 81622954 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7304 S 9 1 0 "" NA12156 esv268600 1 81628352 81628437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514627,essv2516822,essv2519226,essv2514100,essv2516309,essv2518192,essv2517693,essv2517272,essv2518421,essv2519405 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA11881,NA11894,NA12043,NA12814,NA12872,NA12878,NA18970,NA19240 esv273686 1 81628352 81628437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581459,essv2581048 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv470722 1 81643352 81695539 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547748 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01061 nsv823320 1 81655191 81655672 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423129 S 31 1 0 "" NA18999 dgv64e1 1 81660005 81669334 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18882,esv888,essv21875 M 271 0 0 "" NA06991,NA07029 nsv462361 1 81673593 81720518 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538546 S 1557 0 1 "" 1788485381_A nsv870565 1 81673593 81855697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590249 S 6533 0 1 "" IS38477 esv2464487 1 81751727 81753147 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348972 S 1 0 1 "" NA18507 esv2029393 1 81752102 81752658 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4978804 S 1 0 1 "" NA18507 esv4235 1 81752186 81752704 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26676 S 1 0 1 Single Asian sample YH "" YH esv2557027 1 81752321 81752441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346685 S 1 0 1 "" NA18507 nsv830359 1 81805673 81979888 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447384,nssv1447395,nssv1447407 M 95 3 0 "" nsv520460 1 81847088 81856328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697434 S 2026 0 1 "" nsv499801 1 81852135 81854459 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585486 S 9 0 0 "" nsv7178 1 81853674 81892460 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4376 S 9 0 0 "" NA12878 esv999385 1 81857836 81857886 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578536 S 3 0 1 "" HuRef nsv160952 1 81857837 81857887 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179530 M 24 "" esv1159587 1 81972605 81973362 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870215 S 2 0 1 "" HuRef nsv506937 1 82000838 82006838 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617533,nssv623272,nssv620658 M 4 3 0 "" CHM,NA15510,NA18994 nsv823331 1 82003662 82004183 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434175 S 31 0 1 "" NA18570 esv272877 1 82084613 82084945 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584774,essv2583664 M 7 2 0 Samples from several populations that are part of the HapMap project. LPHN2 NA19239,NA19240 esv271483 1 82084614 82084948 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565687,essv2541005,essv2571576,essv2546239,essv2522902,essv2545699,essv2532001,essv2548508,essv2521580,essv2576655,essv2525278,essv2550513,essv2544247,essv2547497,essv2529335,essv2577809,essv2559494,essv2520821,essv2557114,essv2552574,essv2551946,essv2569460,essv2539098,essv2551097,essv2569053,essv2543688,essv2539360,essv2534011,essv2529637,essv2575376,essv2526320,essv2524206,essv2574934,essv2546112,essv2574380,essv2551282,essv2538070,essv2549002,essv2533186,essv2554671,essv2525145,essv2557999 M 157 42 0 Samples from several populations that are part of the HapMap project. LPHN2 NA07000,NA07037,NA07051,NA07346,NA07357,NA10851,NA11829,NA11831,NA11840,NA11881,NA11931,NA12003,NA12006,NA12045,NA12144,NA12154,NA12156,NA12234,NA12414,NA12717,NA12749,NA12761,NA12776,NA18498,NA18501,NA18502,NA18504,NA18508,NA18519,NA18858,NA18861,NA18870,NA18912,NA18916,NA19093,NA19099,NA19114,NA19129,NA19138,NA19239,NA19240,NA19257 nsv437590 1 82184462 82187284 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467471 S 60 0 1 Samples from several populations that are part of the HapMap project. LPHN2 NA10861 nsv437226 1 82184462 82190140 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467107 S 60 0 1 Samples from several populations that are part of the HapMap project. LPHN2 NA19173 nsv526394 1 82349862 82350892 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702693 S 2026 0 1 "" nsv830370 1 82356324 82576932 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447418 S 95 1 0 "" nsv521171 1 82459642 82462594 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694422 S 2026 0 1 "" nsv509357 1 82481034 82505504 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623785 S 4 1 0 "" NA18994 esv1104195 1 82494275 82494275 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876871 S 2 1 0 "" HuRef esv29844 1 82576604 82578358 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19120 S 451 1 0 "" NA07045 esv259977 1 82653159 82653477 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399036,essv2398080,essv2399378,essv2399271,essv2396531,essv2395218 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA12144,NA12287,NA18508,NA18517,NA19108 nsv159508 1 82665083 82672074 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178086 M 24 "" nsv520462 1 82673852 82676831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697435 S 2026 0 1 "" esv2601757 1 82735279 82736732 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277916 S 1 0 1 "" NA18507 esv2118095 1 82735761 82736394 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4870940 S 1 0 1 "" NA18507 nsv871203 1 82764221 82843453 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578658 S 6533 0 1 "" IS34856 nsv470723 1 82795183 82844938 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547749 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00712 esv259853 1 82795279 82795595 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399276,essv2399570,essv2395871,essv2398193,essv2394804,essv2397206 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18570,NA18945,NA18949,NA19114,NA19225 nsv528062 1 82805020 82817399 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704598 S 2026 0 1 "" esv2481329 1 82814181 82815920 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304834 S 1 0 1 "" NA18507 esv2288624 1 82815047 82815734 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4508229 S 1 0 1 "" NA18507 esv2805 1 82815197 82815622 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25246 S 1 0 1 Single Asian sample YH "" YH esv8094 1 82815229 82815580 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30535 S 1 0 1 "" SJK nsv159537 1 82815233 82815552 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178115 M 24 "" esv268833 1 82845577 82845662 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515092 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv2750841 1 82851559 82950167 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983218,essv6983217,essv6989755,essv6989353 M 771 0 1 "" BEC_557 esv990799 1 82896924 82901062 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565730 S 3 0 1 "" HuRef nsv511702 1 82898496 82900834 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626342 S 1 0 1 "" 1 esv4307 1 82898511 82900299 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26748 S 1 0 1 Single Asian sample YH "" YH esv1040469 1 82898546 82900157 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154023 S 2 0 1 "" HuRef esv988721 1 82898556 82900166 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584536 S 3 0 1 "" HuRef esv7649 1 82898568 82900153 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30090 S 1 0 1 "" SJK esv2342174 1 82922263 82922701 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809019 S 1 0 1 "" NA18507 nsv871305 1 82969009 83021628 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572904 S 6533 0 1 "" IS33196 nsv1677 1 83015818 83047519 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10076 S 9 1 0 "" NA18956 nsv819233 1 83027351 83030913 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419558 S 2 1 0 "" AK1 esv3760 1 83074867 83076972 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26201 S 1 0 1 Single Asian sample YH "" YH nsv823342 1 83074869 83076923 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440819,nssv1423967,nssv1426400,nssv1427260 M 31 0 4 "" AK6,AK8,NA18582,NA18969 nsv524169 1 83082401 83103706 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700049 S 2026 0 1 "" dgv65e1 1 83101150 83780899 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3880,essv13524,essv24791,essv14706,essv14544,essv10204,essv6899,essv15760,essv13028,essv15361,essv9795,essv12326,essv9062,esv859,essv16243,essv18979 M 271 0 0 "" NA10860,NA12005,NA18605,NA18859,NA18862,NA18863,NA18994,NA19131,NA19132,NA19138,NA19152,NA19159,NA19160,NA19161,NA19202 nsv830381 1 83172924 83336614 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447495,nssv1447506,nssv1447440,nssv1447451,nssv1447429,nssv1447518,nssv1447529,nssv1447540,nssv1447462,nssv1447484,nssv1447473 M 95 11 0 "" nsv1688 1 83203451 83236020 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10082 S 9 1 0 "" NA18956 esv2395733 1 83251673 83252065 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746946 S 1 0 1 "" NA18507 esv1000088 1 83251853 83251912 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578626 S 3 0 1 "" HuRef nsv871939 1 83257082 83329277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559942 S 6533 0 1 "" MS24225 esv1148205 1 83257350 83257477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343288 S 2 0 1 "" HuRef nsv1699 1 83257605 83303144 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6719 S 9 0 1 "" NA12156 nsv428113 1 83269464 83780899 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450476,nssv450487 M 62 2 0 "" NA18498,NA19181 nsv506938 1 83358896 83364896 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619238,nssv623273 M 4 2 0 "" NA10860,NA18994 esv1003701 1 83361353 83361353 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581080 S 3 1 0 "" HuRef nsv462372 1 83369889 83489547 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538551 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00913 esv27722 1 83370836 83727807 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19089,esv13363 M 451 1 1 "" NA12776,NA18907 essv8077 1 83375945 83716816 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. "" NA19161 esv2613202 1 83377100 83702376 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268501 S 1 0 1 "" NA18507 nsv10339 1 83389337 83394143 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15762 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv870506 1 83402403 83513112 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598762 S 6533 1 0 "" IS40867 dgv262n71 1 83402403 83600861 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871197,nsv870490,nsv871480 M 6533 3 0 "" IS30129,IS38496,IS39243 dgv66e1 1 83433954 83780899 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24568,essv14435,essv16349,essv23337 M 271 0 0 "" NA11992,NA12750,NA19193,NA19201 nsv518391 1 83437707 83489547 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695821 S 2026 0 1 "" nsv1710 1 83452973 83487164 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6728 S 9 0 1 "" NA12156 esv33133 1 83495639 83512991 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98965 S 51 0 1 "" 21938 esv33892 1 83512991 83545170 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100911 S 51 1 0 "" 21656 esv988709 1 83516582 83520681 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586728 S 3 1 0 "" HuRef nsv830392 1 83591075 83761968 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447551 S 95 1 0 "" nsv871481 1 83600861 83704367 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563918 S 6533 1 0 "" IS30129 nsv818256 1 83618302 83629957 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415803,nssv1415802 M 112 2 0 "" NA10860,NA11992 nsv830403 1 83631583 83708958 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447562 S 95 0 1 "" dgv67e1 1 83644538 83710817 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22248,essv13228 M 271 0 0 "" NA11992,NA19131 nsv508020 1 83786238 83792238 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624214,nssv621471,nssv622292 M 4 0 3 "" NA10860,NA15510,NA18994 esv259839 1 83828712 83830032 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398581,essv2395650,essv2399326,essv2397436,essv2394684,essv2400661 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA18501,NA18522,NA18566,NA18870,NA18912 esv270595 1 83842626 83842746 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494326,essv2493199,essv2505691,essv2501510,essv2510401,essv2496963,essv2512182,essv2498073 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18861,NA19093,NA19172,NA19190,NA19238,NA19240 esv273400 1 83842635 83842900 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580698 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv506939 1 83866456 83872456 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619239,nssv623274,nssv620659 M 4 3 0 "" NA10860,NA15510,NA18994 esv29802 1 83898773 83899674 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12667 S 451 0 1 "" NA11894 nsv506940 1 83918146 83924146 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619240,nssv620660,nssv623275 M 4 3 0 "" NA10860,NA15510,NA18994 nsv1721 1 83960967 83992523 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10089 S 9 1 0 "" NA18956 esv33088 1 84007222 84008354 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93620 S 51 0 1 "" 21972 esv33557 1 84008760 84009436 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98290 S 51 1 0 "" 21772 esv32823 1 84009192 84009436 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93612,essv99588,essv98097 M 51 3 0 "" 21972,22217,22259 esv2133471 1 84044322 84044810 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4942227 S 1 0 1 "" NA18507 esv3743 1 84044435 84044702 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26184 S 1 0 1 Single Asian sample YH "" YH nsv523508 1 84082781 84087342 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699279 S 2026 0 1 "" nsv871551 1 84127052 84225811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507178 S 6533 0 1 TTLL7 SP54490 esv1612380 1 84130834 84130890 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596406 S 2 0 1 TTLL7 HuRef esv1339682 1 84131037 84131037 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3902609 S 2 1 0 TTLL7 HuRef esv26427 1 84160949 84161528 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10079 S 451 0 1 TTLL7 NA18508 nsv823353 1 84236771 84237686 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431820 S 31 0 1 TTLL7 AK20 nsv1732 1 84271686 84317223 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9965,nssv1234,nssv10090,nssv2200,nssv6738,nssv5702 M 9 0 6 PRKACB NA12156,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508360 1 84272818 84297585 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618978,nssv622770 M 4 0 2 "" NA10860,NA18994 esv2479910 1 84288798 84297395 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286481 S 1 0 1 "" NA18507 esv988476 1 84289283 84298593 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564344 S 3 0 1 "" HuRef dgv3n16 1 84289565 84297825 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435898,nsv436189 M 2 0 2 "" NA15510,NA18505 esv2456007 1 84289592 84297728 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203624 S 1 0 1 "" NA18507 nsv511703 1 84289742 84298126 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626344 S 1 0 1 "" 1 nsv871655 1 84289849 84323437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518109 S 6533 0 1 PRKACB SP57469 esv1935205 1 84290332 84297436 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671024 S 1 0 1 "" NA18507 esv3939 1 84290484 84297278 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26380 S 1 0 1 Single Asian sample YH "" YH nsv498674 1 84290513 84297232 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585386 S 9 0 1 "" esv8773 1 84290530 84297217 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31214 S 1 0 1 "" SJK nsv871731 1 84369984 84431179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541403 S 6533 0 1 PRKACB MS15312 nsv871656 1 84373636 84466259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507179 S 6533 0 1 PRKACB SP54490 nsv871375 1 84395381 84451006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551695 S 6533 0 1 PRKACB MS18978 dgv263n71 1 84401243 84490571 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871538,nsv871643 M 6533 0 2 PRKACB IS31554,MS25751 nsv830414 1 84409326 84597239 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447573 S 95 1 0 PRKACB,SAMD13 nsv830426 1 84477512 84628817 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447584 S 95 1 0 SAMD13,UOX esv2527540 1 84482617 84489212 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276218 S 1 0 1 "" NA18507 nsv436488 1 84483817 84488581 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466106 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2607567 1 84484000 84489171 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346926 S 1 0 1 "" NA18507 esv28371 1 84484209 84488397 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20356 S 451 0 11 "" NA11894,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA19099,NA19190 esv2121386 1 84484410 84488630 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584030 S 1 0 1 "" NA18507 esv3878 1 84484558 84488532 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26319 S 1 0 1 Single Asian sample YH "" YH esv5501 1 84484595 84488457 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27942 S 1 0 1 "" SJK dgv53n67 1 84484719 84488478 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823376,nsv823365 M 31 0 17 "" AK12,AK18,AK2,AK6,AK8,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18942,NA18949,NA18951,NA18968,NA18969,NA18973 nsv819402 1 84484742 84488508 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419577 S 2 0 1 "" AK1 esv2421602 1 84486421 84488030 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5072360,essv5082240,essv5157315,essv5031880,essv5115104,essv5113782,essv5014683,essv5137000,essv5094216,essv5079988,essv5062288,essv5140623,essv5101225,essv5153786,essv5065846,essv5086987,essv5053867,essv5030210,essv5127002,essv5105131,essv5044710,essv5078964,essv5008627,essv5131868,essv5122308,essv5147869,essv5025560,essv5155751,essv5122768,essv5013770,essv5132363,essv5139232,essv5129329,essv5057996,essv5081740,essv5140780,essv5013948,essv5153872,essv5092042,essv5016901,essv5022444,essv5002035,essv5090757,essv5156654,essv5049807,essv5107031,essv5041871,essv5129938,essv5011629,essv5118932,essv5024550,essv5159355,essv5127696,essv5141608,essv5123790,essv5069893,essv5019898,essv5125815,essv5003977,essv5149386,essv5109764,essv5052285,essv5007581,essv5144174,essv5019381,essv5046534,essv5032739,essv5055462,essv5099816,essv5026912,essv5078787,essv5046031,essv5045813,essv5015461,essv5048489,essv5131850,essv5030876,essv5140344,essv5049303,essv5033117,essv5067729,essv5130973,essv5051222,essv5085838,essv5099595,essv5057696,essv5041859,essv5008605,essv5106907,essv5145330,essv5060835,essv5067771,essv5066543,essv5042077,essv5085789,essv5115865,essv5079048,essv5139812,essv5032001,essv5066118,essv5147239,essv5070191,essv5069590,essv5126376,essv5071833,essv5071479,essv5104304,essv5051207,essv5007833,essv5139872,essv5010750,essv5139542,essv5130500,essv5035368,essv5069154,essv5032906,essv5095908,essv5098787,essv5101779,essv5042811,essv5140324,essv5157353,essv5155100,essv5005534,essv5043570,essv5025710,essv5139475,essv5030122,essv5010516,essv5105604,essv5039410,essv5127804,essv5078770,essv5114555,essv5061238,essv5144802,essv5146268,essv5147763,essv5093628,essv5088323,essv5131933,essv5155465,essv5104038,essv5035524,essv5115907,essv5144039,essv5069454,essv5142623,essv5087579,essv5013322,essv5018585,essv5075735,essv5138399,essv5075673,essv5093304,essv5056926,essv5061760,essv5083163,essv5157160,essv5086783,essv5081276,essv5109327,essv5095297,essv5036545,essv5042339,essv5063048,essv5053979,essv5065994,essv5149694,essv5064316,essv5009782,essv5078967,essv5009959,essv5034208,essv5002195,essv5035329,essv5084755,essv5086721,essv5131571,essv5027769,essv5022481,essv5090051,essv5161051,essv5039772,essv5042836,essv5025769,essv5121903,essv5070357,essv5134890,essv5083301,essv5072275,essv5104063,essv5040762,essv5052318,essv5125870,essv5156967,essv5061865,essv5149932,essv5155334,essv5086076,essv5133146,essv5122011,essv5113291,essv5112978,essv5081849,essv5041285,essv5151978,essv5004240,essv5028221,essv5130462,essv5011411,essv5132121,essv5032023,essv5139589,essv5125203,essv5028958,essv5065837,essv5042169,essv5100088,essv5046795,essv5076201,essv5023201,essv5141508,essv5145055,essv5056657,essv5032186,essv5085078,essv5124679,essv5106053,essv5055375,essv5059852,essv5099558,essv5091152,essv5146408,essv5016494,essv5154755,essv5075706,essv5094693,essv5113300,essv5060336,essv5034611,essv5016042,essv5015046,essv5099831,essv5051764,essv5146490,essv5157676,essv5149214,essv5044677,essv5150027,essv5090863,essv5005626,essv5039332,essv5135607,essv5061933,essv5114785,essv5122502,essv5110583,essv5043771,essv5080960,essv5077761,essv5047435,essv5147267,essv5023326,essv5057908,essv5008837,essv5131762,essv5149540,essv5066466,essv5002563,essv5106693,essv5130080,essv5083894,essv5013996,essv5036963,essv5120822,essv5056011,essv5077514,essv5020301,essv5030934,essv5099513,essv5155587,essv5053191,essv5082517,essv5018251,essv5023028,essv5006750,essv5150231,essv5143356,essv5071563,essv5062998,essv5035684,essv5033297,essv5120375,essv5032574,essv5039560,essv5113726,essv5112639,essv5137746,essv5118213,essv5014880,essv5149572,essv5002468,essv5024874,essv5145663,essv5074498,essv5040719,essv5053590,essv5023726,essv5036168,essv5084429,essv5011359,essv5103714,essv5074916,essv5092560,essv5063959,essv5158207,essv5119390,essv5068871,essv5091057,essv5091624,essv5046320,essv5120494,essv5073215,essv5029449,essv5082651,essv5011977,essv5130479,essv5108296,essv5040440,essv5004590,essv5138240,essv5139992,essv5137341,essv5116366,essv5156079,essv5134238,essv5092338,essv5087411,essv5108389,essv5033306,essv5105566,essv5138091,essv5062182,essv5090652,essv5142039,essv5159112,essv5038200,essv5078268,essv5042673,essv5089817,essv5099025,essv5143554,essv5025471,essv5052518,essv5054244,essv5142273,essv5087128,essv5081303,essv5061210,essv5115169,essv5118776,essv5011251,essv5091021,essv5131925,essv5126454,essv5113002,essv5081827,essv5011716,essv5034134,essv5023319,essv5128985,essv5038043,essv5104043,essv5049221,essv5145681,essv5020445,essv5069462,essv5010693,essv5022066,essv5058979,essv5084857,essv5008386,essv5156254,essv5142652,essv5083153,essv5117188,essv5026033,essv5001913,essv5013760,essv5117491,essv5091840,essv5028197,essv5072563,essv5112764,essv5132219,essv5138830,essv5082605,essv5158143,essv5003135,essv5035810,essv5060556,essv5108572,essv5086850,essv5086734,essv5140974,essv5137058,essv5021538,essv5115746,essv5094211,essv5142202,essv5004703,essv5123364,essv5013787,essv5011197,essv5025818,essv5033821,essv5043384,essv5062557,essv5018176,essv5147793,essv5131509,essv5145883,essv5013382,essv5146597,essv5076888,essv5083682,essv5080405,essv5044011,essv5087164,essv5082880,essv5076007,essv5018426,essv5158429,essv5010560,essv5141629,essv5027673,essv5029189,essv5101232,essv5115622,essv5039381,essv5156827,essv5158711,essv5003556,essv5022677,essv5042848,essv5078895,essv5080356,essv5152333,essv5130846,essv5085299,essv5019391 M 1184 0 452 "" NA10864,NA11843,NA11894,NA12282,NA12707,NA12716,NA12778,NA12864,NA12865,NA12873,NA12890,NA17962,NA17967,NA17968,NA17969,NA17970,NA17975,NA17977,NA17979,NA17981,NA17983,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA18101,NA18102,NA18108,NA18112,NA18117,NA18118,NA18120,NA18124,NA18125,NA18129,NA18132,NA18134,NA18135,NA18136,NA18139,NA18141,NA18144,NA18146,NA18150,NA18152,NA18154,NA18159,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18503,NA18504,NA18506,NA18507,NA18508,NA18511,NA18517,NA18518,NA18520,NA18524,NA18529,NA18532,NA18534,NA18537,NA18542,NA18545,NA18550,NA18552,NA18557,NA18558,NA18559,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18595,NA18596,NA18597,NA18602,NA18603,NA18608,NA18610,NA18612,NA18614,NA18615,NA18617,NA18620,NA18623,NA18626,NA18627,NA18628,NA18630,NA18631,NA18633,NA18634,NA18637,NA18639,NA18647,NA18674,NA18682,NA18685,NA18694,NA18696,NA18740,NA18745,NA18747,NA18757,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18867,NA18868,NA18869,NA18873,NA18909,NA18910,NA18911,NA18914,NA18917,NA18923,NA18925,NA18934,NA18935,NA18939,NA18940,NA18942,NA18944,NA18945,NA18946,NA18948,NA18949,NA18951,NA18952,NA18953,NA18957,NA18960,NA18961,NA18965,NA18966,NA18967,NA18968,NA18969,NA18973,NA18975,NA18976,NA18977,NA18978,NA18979,NA18981,NA18991,NA18994,NA19002,NA19005,NA19027,NA19028,NA19031,NA19054,NA19055,NA19056,NA19058,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19072,NA19075,NA19076,NA19077,NA19078,NA19079,NA19081,NA19083,NA19086,NA19087,NA19093,NA19099,NA19102,NA19103,NA19117,NA19119,NA19120,NA19131,NA19137,NA19139,NA19146,NA19148,NA19153,NA19154,NA19159,NA19161,NA19172,NA19173,NA19174,NA19176,NA19181,NA19182,NA19183,NA19185,NA19186,NA19189,NA19190,NA19191,NA19198,NA19201,NA19204,NA19213,NA19215,NA19239,NA19248,NA19249,NA19256,NA19308,NA19309,NA19311,NA19313,NA19324,NA19332,NA19334,NA19350,NA19352,NA19372,NA19375,NA19377,NA19384,NA19385,NA19391,NA19394,NA19396,NA19403,NA19428,NA19430,NA19431,NA19435,NA19437,NA19439,NA19440,NA19443,NA19446,NA19455,NA19456,NA19462,NA19469,NA19470,NA19471,NA19473,NA19649,NA19650,NA19657,NA19660,NA19661,NA19663,NA19664,NA19665,NA19669,NA19682,NA19685,NA19703,NA19708,NA19711,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19725,NA19755,NA19759,NA19760,NA19761,NA19763,NA19770,NA19772,NA19774,NA19788,NA19789,NA19790,NA19795,NA19818,NA19900,NA19902,NA19908,NA19909,NA19917,NA19918,NA19919,NA19921,NA19982,NA20127,NA20289,NA20291,NA20294,NA20295,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20341,NA20343,NA20346,NA20347,NA20348,NA20357,NA20360,NA20775,NA20783,NA20807,NA20845,NA20847,NA20849,NA20856,NA20869,NA20871,NA20873,NA20875,NA20876,NA20889,NA20892,NA20895,NA20901,NA20902,NA20903,NA21086,NA21089,NA21092,NA21098,NA21101,NA21102,NA21105,NA21111,NA21113,NA21115,NA21137,NA21141,NA21300,NA21301,NA21302,NA21303,NA21307,NA21316,NA21318,NA21320,NA21336,NA21344,NA21352,NA21353,NA21355,NA21356,NA21362,NA21367,NA21368,NA21370,NA21371,NA21379,NA21381,NA21382,NA21383,NA21387,NA21389,NA21390,NA21408,NA21415,NA21421,NA21423,NA21424,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21453,NA21454,NA21475,NA21476,NA21477,NA21480,NA21485,NA21486,NA21488,NA21489,NA21490,NA21491,NA21493,NA21512,NA21517,NA21519,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21573,NA21576,NA21577,NA21583,NA21587,NA21596,NA21600,NA21601,NA21615,NA21616,NA21619,NA21620,NA21631,NA21647,NA21678,NA21682,NA21717,NA21718,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768 nsv506941 1 84521939 84527939 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623276 S 4 1 0 "" NA18994 nsv1744 1 84587316 84619778 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6744 S 9 1 0 SAMD13,UOX NA12156 nsv830437 1 84610112 84773857 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447606,nssv1447595 M 95 1 1 DNASE2B,GNG5,RPF1,UOX nsv823387 1 84649258 84649878 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437950 S 31 0 1 DNASE2B NA18951 esv26524 1 84668422 84672134 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13604 S 451 0 1 "" NA19099 nsv441698 1 84668621 84670569 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv267919 1 84685800 84686172 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516678,essv2519178,essv2514102,essv2515367,essv2515123,essv2517921,essv2516082,essv2519466 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11881,NA11894,NA12043,NA12249,NA12812,NA12872,NA12873 esv1648734 1 84685862 84685862 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610667 S 2 1 0 "" HuRef nsv1755 1 84744997 84780303 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1242 S 9 1 0 "" NA19240 esv270553 1 84827108 84827364 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506209,essv2507137,essv2501387,essv2512165,essv2501793,essv2498180 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18870,NA19093,NA19238,NA19239,NA19240 esv272848 1 84827116 84827449 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579891,essv2580811,essv2579212,essv2579440 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 nsv516470 1 85012152 85013886 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690492,nssv668576,nssv686856,nssv704475,nssv658797 M 2026 1 4 "" nsv830448 1 85066682 85263698 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447617,nssv1447629 M 95 0 2 LPAR3,MCOLN2,MCOLN3 nsv470724 1 85107376 85357848 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547750 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LPAR3,MCOLN2,MCOLN3,WDR63 HGDP01029 nsv462383 1 85107376 85367054 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538558 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LPAR3,MCOLN2,MCOLN3,WDR63 HGDP01029 esv1124396 1 85160734 85160734 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366379 S 2 1 0 "" HuRef esv267474 1 85164953 85165038 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519039 S 157 1 0 Samples from several populations that are part of the HapMap project. MCOLN2 NA19141 nsv521770 1 85311535 85312392 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694537 S 2026 0 1 WDR63 nsv523150 1 85311535 85313752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698858 S 2026 0 1 WDR63 esv34165 1 85314628 85618837 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 BCL10,C1orf52,DDAH1,MIR4423,SYDE2,WDR63 nsv830459 1 85362173 85558899 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447640 S 95 0 1 BCL10,C1orf52,DDAH1,MIR4423,SYDE2,WDR63 esv2617162 1 85392274 85393025 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320527 S 1 1 0 "" NA18507 esv23473 1 85438779 85440284 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17132 S 451 0 2 SYDE2 NA12156,NA12489 nsv523891 1 85454849 85455180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699734 S 2026 0 1 "" esv2574928 1 85520851 85522497 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229260 S 1 0 1 "" NA18507 dgv2e194 1 85521006 85521742 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2304016,esv2065463 M 1 0 1 "" NA18507 esv1008164 1 85521036 85522281 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565455 S 3 0 1 "" HuRef esv3232 1 85521125 85521666 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25673 S 1 0 1 Single Asian sample YH "" YH esv1010849 1 85521210 85521539 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570793 S 3 0 1 "" HuRef esv1266887 1 85521222 85521552 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138331 S 2 0 1 "" HuRef esv8174 1 85521226 85521550 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30615 S 1 0 1 "" SJK nsv830470 1 85593363 85786668 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447651 S 95 0 1 DDAH1 nsv1766 1 85650741 85683808 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7335 S 9 1 0 DDAH1 NA12156 nsv441699 1 85683879 85687990 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DDAH1 nsv821007 1 85745063 85779087 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420414 S 1 1 0 DDAH1 NA10851 nsv823398 1 85745063 85779087 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427264 S 31 0 1 DDAH1 AK8 esv21828 1 85746606 85778249 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10272 S 451 2 0 DDAH1 NA15510,NA19114 esv2647869 1 85747031 85778417 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288249 S 1 1 0 DDAH1 NA18507 nsv436030 1 85755226 85777102 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466117 S 2 1 0 DDAH1 NA15510 esv2440186 1 85765270 85766664 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236752 S 1 0 1 DDAH1 NA18507 nsv871471 1 85915672 85984104 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502227 S 6533 1 0 COL24A1,ZNHIT6 SP51054 nsv509369 1 85919821 85955612 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623786 S 4 1 0 ZNHIT6 NA18994 nsv506942 1 85946074 85952074 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620661 S 4 1 0 ZNHIT6 NA15510 esv25228 1 86069229 86070139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15952 S 451 0 2 COL24A1 NA11894,NA15510 nsv871189 1 86088312 86174832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588033 S 6533 0 1 COL24A1 IS38148 nsv823409 1 86115426 86125151 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436346 S 31 0 1 COL24A1 NA18542 nsv870724 1 86125398 86174832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500470 S 6533 0 1 COL24A1 SP50649 nsv462395 1 86152102 86229922 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538568 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL24A1 HGDP01345 nsv522304 1 86158464 86174832 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695085 S 2026 1 0 COL24A1 nsv437701 1 86158464 86188931 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467582 S 60 0 1 Samples from several populations that are part of the HapMap project. COL24A1 NA12753 nsv10350 1 86173149 86177434 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17418,nssv15771,nssv15437,nssv17414,nssv18754,nssv14096 M 31 0 6 Samples from several populations that are part of the HapMap project. COL24A1 NA10839,NA18517,NA18563,NA18564,NA18860,NA19007 dgv54n67 1 86173280 86177332 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823431,nsv823442,nsv823420,nsv823453 M 31 0 12 COL24A1 AK12,AK16,AK18,AK8,NA18526,NA18542,NA18547,NA18564,NA18592,NA18968,NA18973,NA18999 nsv819896 1 86173303 86177711 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419635 S 2 0 1 COL24A1 AK1 esv23326 1 86173335 86177263 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10764 S 451 0 5 COL24A1 NA07037,NA12004,NA12414,NA18517,NA19225 esv4489 1 86173388 86177299 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26930 S 1 0 1 Single Asian sample YH COL24A1 YH nsv508371 1 86173412 86203435 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617500 S 4 0 1 COL24A1 CHM esv2421338 1 86174832 86176913 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005077,essv5037580,essv5072226,essv5084107,essv5044199,essv5036019,essv5071079,essv5154514,essv5145422,essv5074500,essv5140010,essv5017191,essv5030580,essv5048441,essv5077634,essv5003627,essv5009127,essv5086718,essv5127185,essv5056872,essv5079219,essv5005641,essv5069962,essv5125124,essv5149980,essv5090090,essv5071552,essv5117387,essv5054019,essv5035370,essv5062106,essv5078118,essv5090976,essv5112176,essv5155165,essv5066603,essv5072394,essv5039552,essv5059376,essv5093326,essv5061787,essv5127527,essv5064217,essv5108998,essv5153669,essv5093994,essv5070996,essv5099591,essv5020614,essv5088412,essv5074191,essv5045339,essv5029790,essv5147609,essv5040602,essv5140728,essv5027724,essv5066117,essv5087303,essv5080124,essv5158613,essv5056546,essv5155012,essv5152381,essv5128994,essv5007803,essv5080067,essv5017572,essv5095756,essv5040937,essv5157122,essv5140469,essv5098335,essv5034452,essv5111378,essv5022057,essv5105515,essv5141474,essv5141969,essv5025210,essv5042552,essv5073666,essv5146402,essv5010096,essv5114763,essv5041234,essv5057417,essv5019389,essv5159176,essv5054610,essv5034235,essv5062274,essv5044643,essv5043834,essv5100213,essv5034747,essv5037010,essv5085696,essv5129888,essv5045093,essv5122825,essv5075568,essv5069860,essv5075225,essv5030386,essv5045293,essv5095594,essv5129234,essv5103767,essv5100316,essv5104661,essv5004665,essv5034520,essv5061955,essv5159007,essv5145495,essv5152179,essv5082407,essv5091273,essv5130101,essv5078170,essv5110922,essv5116947,essv5070715,essv5136110,essv5055114,essv5067678,essv5087513,essv5111573,essv5118737,essv5095821,essv5139956,essv5129081,essv5059266,essv5142037,essv5128936,essv5134135,essv5160160,essv5102420,essv5090990,essv5043234,essv5031234,essv5079930,essv5075002,essv5049454,essv5121838,essv5058103,essv5075353,essv5046218,essv5077561,essv5136615,essv5157325,essv5049140,essv5105170,essv5157489,essv5104889,essv5148507,essv5076002,essv5098529,essv5161002,essv5079786,essv5108041,essv5135844,essv5133137,essv5155614,essv5108252,essv5056574,essv5040165,essv5128112,essv5112306,essv5110383,essv5073605,essv5003031,essv5149792,essv5027971,essv5106505,essv5086913,essv5020410,essv5129704,essv5017974,essv5073071,essv5142257,essv5147072,essv5093008,essv5092150,essv5106196,essv5010783,essv5062778,essv5104267,essv5097245,essv5075783,essv5092647,essv5137538,essv5111574,essv5062114,essv5028624,essv5138966,essv5008850,essv5123005,essv5091104,essv5061384,essv5125565,essv5120153,essv5003611,essv5047652,essv5118730,essv5022781,essv5037737,essv5020842,essv5136391,essv5156403,essv5112952,essv5093280,essv5132440,essv5067730,essv5128668,essv5033950,essv5056975,essv5048835,essv5044367,essv5038716,essv5116921,essv5158926,essv5050216,essv5085176,essv5146566,essv5063599,essv5090171,essv5089572,essv5077637,essv5134641,essv5160495,essv5128822,essv5069470,essv5149754,essv5079948,essv5068944,essv5020876,essv5043255,essv5055915,essv5093052,essv5129927,essv5021315,essv5006017,essv5050847,essv5072781,essv5123179,essv5106048,essv5057045,essv5115712,essv5141988,essv5086367,essv5022335,essv5003023,essv5087907,essv5098496,essv5069319,essv5087719,essv5094940,essv5036618,essv5064385,essv5109688,essv5027742,essv5010698,essv5123952,essv5023338,essv5024006,essv5158698,essv5158757,essv5141801,essv5104499,essv5141743,essv5155129,essv5157268,essv5080984,essv5153305,essv5022934,essv5045576,essv5091087,essv5064144,essv5098254,essv5116487,essv5018389,essv5100276,essv5057205,essv5010623,essv5010272,essv5141430,essv5054096,essv5036486,essv5063669,essv5105282,essv5118295,essv5065323,essv5038130,essv5127037,essv5121670,essv5059476,essv5103328,essv5019606,essv5052230,essv5074514,essv5116722,essv5038357,essv5053364,essv5136831,essv5160055,essv5085228,essv5010082,essv5095759,essv5103151,essv5121620,essv5030458,essv5145793,essv5146950,essv5080571 M 1184 0 316 COL24A1 NA06986,NA06997,NA07037,NA10837,NA10838,NA10839,NA10859,NA10865,NA11891,NA11892,NA11918,NA11930,NA12005,NA12144,NA12273,NA12335,NA12340,NA12347,NA12753,NA12760,NA12762,NA12767,NA12777,NA12813,NA12864,NA12873,NA12891,NA17962,NA17966,NA17969,NA17976,NA17980,NA17981,NA17996,NA17999,NA18101,NA18105,NA18107,NA18112,NA18117,NA18120,NA18127,NA18129,NA18131,NA18132,NA18134,NA18135,NA18138,NA18139,NA18140,NA18143,NA18146,NA18149,NA18159,NA18160,NA18484,NA18486,NA18515,NA18517,NA18524,NA18526,NA18534,NA18542,NA18544,NA18546,NA18550,NA18563,NA18564,NA18579,NA18593,NA18596,NA18599,NA18602,NA18603,NA18611,NA18614,NA18619,NA18620,NA18622,NA18631,NA18632,NA18633,NA18638,NA18641,NA18642,NA18643,NA18745,NA18748,NA18859,NA18860,NA18874,NA18910,NA18939,NA18943,NA18944,NA18945,NA18946,NA18948,NA18952,NA18954,NA18955,NA18957,NA18962,NA18963,NA18964,NA18967,NA18968,NA18971,NA18973,NA18974,NA18977,NA18979,NA18981,NA18987,NA18990,NA18994,NA18999,NA19000,NA19005,NA19007,NA19009,NA19010,NA19058,NA19059,NA19062,NA19076,NA19077,NA19079,NA19086,NA19088,NA19095,NA19097,NA19113,NA19116,NA19130,NA19159,NA19178,NA19189,NA19191,NA19201,NA19203,NA19204,NA19223,NA19224,NA19225,NA19309,NA19310,NA19318,NA19324,NA19327,NA19332,NA19359,NA19371,NA19373,NA19374,NA19376,NA19380,NA19384,NA19391,NA19394,NA19396,NA19440,NA19445,NA19466,NA19474,NA19625,NA19649,NA19650,NA19657,NA19659,NA19663,NA19676,NA19712,NA19713,NA19716,NA19719,NA19725,NA19747,NA19748,NA19756,NA19759,NA19760,NA19761,NA19774,NA19779,NA19781,NA19782,NA19783,NA19788,NA19790,NA19818,NA19834,NA19835,NA19836,NA19901,NA19909,NA19919,NA19983,NA20301,NA20302,NA20334,NA20335,NA20344,NA20348,NA20350,NA20505,NA20506,NA20508,NA20527,NA20531,NA20534,NA20539,NA20540,NA20542,NA20544,NA20753,NA20756,NA20758,NA20761,NA20765,NA20771,NA20783,NA20786,NA20790,NA20792,NA20804,NA20806,NA20807,NA20808,NA20812,NA20818,NA20819,NA20826,NA20845,NA20849,NA20850,NA20852,NA20854,NA20856,NA20859,NA20861,NA20862,NA20866,NA20871,NA20872,NA20873,NA20876,NA20877,NA20883,NA20885,NA20887,NA20888,NA20894,NA20902,NA20903,NA20906,NA20908,NA20911,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21100,NA21101,NA21102,NA21104,NA21105,NA21107,NA21109,NA21111,NA21113,NA21117,NA21118,NA21123,NA21125,NA21137,NA21143,NA21144,NA21295,NA21300,NA21307,NA21308,NA21309,NA21352,NA21363,NA21378,NA21381,NA21383,NA21384,NA21386,NA21388,NA21389,NA21408,NA21415,NA21417,NA21441,NA21448,NA21451,NA21478,NA21509,NA21517,NA21528,NA21529,NA21573,NA21577,NA21597,NA21611,NA21614,NA21619,NA21620,NA21683,NA21686,NA21717,NA21718 nsv433165 1 86174832 86176913 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463046 S 9 0 1 Samples from several populations that are part of the HapMap project. COL24A1 NA18517 nsv437871 1 86175057 86177084 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471590,nssv471579 M 269 0 2 Samples from several populations that are part of the HapMap project. COL24A1 NA12753,NA12762 esv2595836 1 86177736 86179181 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370760 S 1 0 1 COL24A1 NA18507 nsv511704 1 86178086 86178908 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626345 S 1 0 1 COL24A1 1 esv2075404 1 86178196 86178903 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939520 S 1 0 1 COL24A1 NA18507 esv3715 1 86178348 86178857 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26156 S 1 0 1 Single Asian sample YH COL24A1 YH esv995781 1 86178383 86178710 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571155 S 3 0 1 COL24A1 HuRef esv8255 1 86178387 86178709 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30696 S 1 0 1 COL24A1 SJK esv1017473 1 86178393 86178721 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294523 S 2 0 1 COL24A1 HuRef nsv462406 1 86184765 86282584 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538575 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL24A1 HGDP01198 nsv525678 1 86260502 86322086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701836 S 2026 0 1 COL24A1 esv1008311 1 86320194 86320960 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587264 S 3 0 1 COL24A1 HuRef nsv830481 1 86322862 86509878 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447662 S 95 1 0 COL24A1 nsv506943 1 86343780 86349780 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619241 S 4 1 0 COL24A1 NA10860 esv269628 1 86469495 86469726 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500423,essv2500008,essv2500661,essv2512718,essv2507458,essv2505411,essv2503688 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18558,NA18571,NA18577,NA18638,NA18952,NA18960 dgv7n21 1 86476779 86479953 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525420,nsv525653 M 2026 0 2 "" nsv525045 1 86487318 86490462 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701090 S 2026 0 1 "" nsv871223 1 86497111 86557392 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565743 S 6533 1 0 "" IS30516 nsv871866 1 86499207 86624008 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600845 S 6533 1 0 ODF2L IS41933 esv2551120 1 86513192 86515239 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271255 S 1 0 1 "" NA18507 nsv511705 1 86513319 86514903 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626346 S 1 0 1 "" 1 esv4649 1 86513521 86514352 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27090 S 1 0 1 Single Asian sample YH "" YH esv1466406 1 86513574 86514291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028644 S 2 0 1 "" HuRef esv8990 1 86513577 86514287 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31431 S 1 0 1 "" SJK nsv871081 1 86578960 86665407 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556537 S 6533 0 1 CLCA2,ODF2L MS22104 nsv521366 1 86689355 86694749 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697976 S 2026 0 1 CLCA2 nsv823464 1 86785526 86787428 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437685 S 31 0 1 CLCA4 NA18547 nsv871378 1 86955036 86988196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514392 S 6533 0 1 SH3GLB1 SP56004 esv1437158 1 87035639 87035639 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332147 S 2 1 0 "" HuRef esv1564894 1 87035961 87035961 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869134 S 2 1 0 "" HuRef nsv1777 1 87075739 87110376 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2994 S 9 1 0 SEP15 NA18555 esv1340746 1 87138812 87138812 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111922 S 2 1 0 SEP15 HuRef esv1704081 1 87223672 87223738 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834377 S 2 0 1 HS2ST1 HuRef nsv509380 1 87262135 87298802 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621097 S 4 1 0 HS2ST1 NA15510 esv259809 1 87275379 87275655 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399085,essv2397316,essv2398819,essv2394888,essv2394572,essv2398771,essv2398388,essv2396421 M 144 0 0 Samples from several populations that are part of the HapMap project. HS2ST1 NA10851,NA12878,NA18582,NA18942,NA18965,NA19005,NA19093,NA19138 esv259535 1 87275381 87275636 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394104 S 6 0 0 Samples from several populations that are part of the HapMap project. HS2ST1 NA12878 esv1002791 1 87275467 87275467 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583926 S 3 1 0 HS2ST1 HuRef esv1375917 1 87275541 87275541 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194224 S 2 1 0 HS2ST1 HuRef esv1005148 1 87282552 87285023 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565727 S 3 1 0 HS2ST1 HuRef nsv512744 1 87284861 87285084 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625371 S 1 1 0 HS2ST1 1 esv28524 1 87296221 87297034 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14712 S 451 0 1 HS2ST1 NA18517 esv2476077 1 87331496 87332557 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196239 S 1 1 0 HS2ST1 NA18507 esv271397 1 87332106 87332373 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502932,essv2507437,essv2497728,essv2502272 M 157 4 0 Samples from several populations that are part of the HapMap project. HS2ST1 NA18507,NA18912,NA19147,NA19257 esv23870 1 87352996 87386846 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16675,esv11592 M 451 6 0 LOC339524 NA11993,NA12156,NA12414,NA18858,NA19147,NA19257 nsv1788 1 87379337 87395992 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10101 S 9 1 0 LOC339524 NA18956 nsv437812 1 87405608 87416535 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467693 S 60 0 1 Samples from several populations that are part of the HapMap project. LOC339524 NA10855 nsv437882 1 87409982 87412646 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471601,nssv471612 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10855,NA11831 nsv522243 1 87484480 87493441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695023 S 2026 0 1 "" nsv517578 1 87493441 87507691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701135,nssv678000,nssv679264,nssv679722,nssv652421 M 2026 0 5 "" nsv1799 1 87529584 87560902 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10104 S 9 1 0 "" NA18956 esv24748 1 87568971 87569605 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13165 S 451 1 0 LMO4 NA19225 nsv518195 1 87665377 87675612 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695619 S 2026 0 1 "" nsv508382 1 87750533 87812254 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618979 S 4 0 1 "" NA10860 esv2112199 1 87819531 87820008 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596049 S 1 0 1 "" NA18507 nsv1810 1 87828384 87873173 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7341 S 9 0 1 "" NA12156 nsv159009 1 87847397 87854193 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177587 M 24 "" nsv870741 1 87927399 87981929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516513 S 6533 0 1 "" SP56849 nsv871539 1 88054349 88131512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554496,nssv1554143,nssv1600568 M 6533 0 3 "" IS41898,MS20630,MS20843 nsv517179 1 88055598 88075192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653937,nssv661396 M 2026 0 2 "" esv1002740 1 88058428 88058583 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571534 S 3 0 1 "" HuRef nsv159923 1 88058429 88058582 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178501 M 24 "" nsv437893 1 88089816 88098295 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471623 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv470725 1 88225891 88817926 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547751 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00647 nsv522244 1 88256151 88276958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695024 S 2026 0 1 "" nsv462417 1 88256151 88817926 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538586 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00647 nsv830492 1 88383970 88542802 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447673,nssv1447684 M 95 1 1 "" nsv830503 1 88471795 88649330 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447695 S 95 1 0 "" esv273781 1 88586171 88586529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580701,essv2579584 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv268927 1 88586182 88586518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541032,essv2546210,essv2548342,essv2529234,essv2576439,essv2537510,essv2546736,essv2544847,essv2523538,essv2552753,essv2541346,essv2543023,essv2540572,essv2559946,essv2566128,essv2532645,essv2528800,essv2541828,essv2572285,essv2559058,essv2562195,essv2578176,essv2555695,essv2574029,essv2527546,essv2534216,essv2531277,essv2543326,essv2525586,essv2527017,essv2545990 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA11881,NA12045,NA12749,NA12814,NA12878,NA12892,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18570,NA18572,NA18576,NA18579,NA18592,NA18609,NA18638,NA18909,NA18940,NA18945,NA18951,NA18952,NA18959,NA18961,NA18965,NA18980,NA19005,NA19239 esv990593 1 88633305 88633305 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581161 S 3 1 0 "" HuRef esv1034966 1 88633306 88633306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3948410 S 2 1 0 "" HuRef esv27318 1 88652065 88679387 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16524 S 451 1 0 "" NA11995 esv2594219 1 88695503 88696560 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171155 S 1 1 0 "" NA18507 esv1373305 1 88695515 88695950 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885687 S 2 0 1 "" HuRef nsv1821 1 88720408 88755739 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5710,nssv4384,nssv3002 M 9 3 0 "" NA12878,NA18555,NA19129 esv988026 1 88743407 88745186 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563749 S 3 1 0 "" HuRef esv1673526 1 88745413 88745413 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117122 S 2 1 0 "" HuRef nsv871639 1 88847284 88921381 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552677 S 6533 0 1 "" MS19584 nsv823476 1 88867042 88867919 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430351,nssv1435661 M 31 0 2 "" AK16,NA18566 esv23437 1 88867104 88867896 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10970 S 451 0 5 "" NA06985,NA12239,NA18502,NA18523,NA19190 esv269840 1 88888279 88888589 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502526,essv2494206,essv2496422,essv2494990,essv2506140,essv2506345,essv2512883,essv2506939,essv2497583,essv2496945 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA12750,NA18502,NA18510,NA18520,NA18523,NA18566,NA18609,NA19102,NA19147,NA19190 nsv508021 1 88895508 88901508 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618497,nssv622293,nssv624215 M 4 0 3 "" CHM,NA10860,NA18994 nsv830514 1 88953414 89115101 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447706 S 95 0 1 GTF2B,PKN2 esv272654 1 88991957 88992272 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581886,essv2583219,essv2583967,essv2584631,essv2583742 M 7 5 0 Samples from several populations that are part of the HapMap project. PKN2 NA12878,NA12892,NA19238,NA19239,NA19240 nsv830525 1 89015134 89213918 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447717,nssv1447728 M 95 0 2 CCBL2,GTF2B,PKN2 esv272267 1 89019483 89019844 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580828,essv2579012,essv2579718 M 7 3 0 Samples from several populations that are part of the HapMap project. PKN2 NA19238,NA19239,NA19240 esv270672 1 89019655 89019794 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511881,essv2496214,essv2493608,essv2513290,essv2495700,essv2501391,essv2506887,essv2506578,essv2498930,essv2511977,essv2501946 M 157 11 0 Samples from several populations that are part of the HapMap project. PKN2 NA18499,NA18511,NA18517,NA18907,NA18916,NA19093,NA19102,NA19108,NA19138,NA19238,NA19239 nsv830537 1 89028655 89178666 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447740 S 95 1 0 CCBL2,GTF2B,PKN2 nsv871171 1 89029966 89079405 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499972 S 6533 1 0 PKN2 SP50119 dgv22n27 1 89029966 89133108 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462439,nsv462461,nsv462428 M 1557 3 0 GTF2B,PKN2 HGDP00995,HGDP01003,HGDP01010 nsv462450 1 89037836 89079405 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538610 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PKN2 HGDP01047 nsv462472 1 89123329 89209701 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538627 S 1557 0 1 CCBL2,GTF2B 1780862212_A dgv68e1 1 89184656 89333311 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17801,essv2805,essv17025,essv5514,essv898,essv5558,essv10023,essv15803,essv12245,essv9008,essv20005,essv15263,essv6155,essv3068,essv8170,essv11730,essv16481,essv19389,esv400,essv14320,essv16288,essv13878,essv17166,essv18729,essv18977,essv14717,essv15024,essv24668 M 271 0 0 CCBL2,GBP1,GBP3,RBMXL1 NA07048,NA10831,NA11829,NA11840,NA12005,NA12874,NA18529,NA18532,NA18632,NA18854,NA18981,NA18987,NA19000,NA19094,NA19099,NA19101,NA19129,NA19132,NA19144,NA19154,NA19159,NA19161,NA19171,NA19194,NA19206,NA19210,NA19223 esv7403 1 89227167 89227284 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29844 S 1 1 0 CCBL2,RBMXL1 SJK esv1998863 1 89232018 89232445 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4984472 S 1 0 1 "" NA18507 nsv10361 1 89248331 89251634 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16101,nssv14736,nssv16092,nssv14758,nssv17748,nssv13421,nssv14426,nssv15106,nssv13432,nssv15093,nssv19084,nssv13087,nssv14424,nssv17760,nssv12425,nssv17429,nssv15767,nssv14402,nssv12775,nssv14761,nssv14408,nssv17744,nssv20423,nssv14750,nssv13437,nssv16753 M 31 26 0 Samples from several populations that are part of the HapMap project. GBP3 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12872,NA18502,NA18504,NA18517,NA18552,NA18563,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv819062 1 89248672 89251662 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419497 S 2 1 0 GBP3 AK1 dgv55n67 1 89248781 89251213 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823498,nsv823487,nsv823509 M 31 0 11 GBP3 AK16,AK2,AK20,AK4,NA18526,NA18537,NA18564,NA18566,NA18947,NA18949,NA18951 nsv820541 1 89248781 89251213 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420425 S 1 0 1 GBP3 NA10851 esv22437 1 89249007 89251114 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15180 S 451 37 0 GBP3 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv33356 1 89285439 89292763 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98676 S 51 0 1 GBP1 21606 nsv526528 1 89319727 89326189 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702841 S 2026 1 0 "" nsv462494 1 89319727 89362144 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538647 S 1557 0 1 GBP2 NINDS_145 nsv523587 1 89323592 89327058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699377 S 2026 0 1 "" nsv871277 1 89323592 89403309 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526310 S 6533 0 1 GBP2,GBP7 SP57165 nsv830548 1 89380337 89536868 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447751 S 95 1 0 GBP4,GBP5,GBP7 nsv871785 1 89416232 89594680 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550271 S 6533 1 0 GBP4,GBP5 MS18387 nsv508022 1 89448208 89454208 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622294,nssv621472,nssv618498,nssv624216 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv525030 1 89494450 89499180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701071 S 2026 0 1 GBP5 nsv159897 1 89533878 89533937 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178475 M 24 "" nsv525147 1 89548821 89551639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701217 S 2026 0 1 "" esv29339 1 89571557 89584796 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14343,esv19397 M 451 30 0 "" NA06985,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19240 nsv830559 1 89773994 89950109 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447762 S 95 1 0 FLJ27354,LRRC8B,LRRC8C esv26614 1 89794669 89795405 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13539 S 451 0 1 LRRC8B NA19099 nsv508023 1 89861162 89867162 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624217 S 4 0 1 FLJ27354 NA18994 esv25406 1 89874796 89875496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11665 S 451 0 1 LRRC8C NA19129 nsv521773 1 89905170 89915816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694540 S 2026 0 1 LRRC8C esv2430347 1 89932682 89934169 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366948 S 1 0 1 LRRC8C NA18507 esv21711 1 89941625 89946753 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20234 S 451 0 1 LRRC8C NA18909 nsv1832 1 90127577 90172729 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5725,nssv7352 M 9 0 2 LRRC8D NA12156,NA19129 esv273544 1 90143067 90143207 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580131,essv2579935,essv2579177 M 7 3 0 Samples from several populations that are part of the HapMap project. LRRC8D NA12878,NA12892,NA19239 esv267816 1 90143103 90143237 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500880,essv2495407,essv2502309,essv2507742,essv2503788,essv2500067,essv2512110,essv2503654,essv2511545 M 157 9 0 Samples from several populations that are part of the HapMap project. LRRC8D NA06986,NA07346,NA11830,NA11919,NA12004,NA12751,NA12761,NA18573,NA19238 nsv1843 1 90218710 90263602 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7358 S 9 0 1 GEMIN8P4,ZNF326 NA12156 nsv528471 1 90246439 90304844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705074 S 2026 0 1 ZNF326 nsv830570 1 90297803 90458114 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447773,nssv1447784 M 95 2 0 "" nsv462506 1 90306636 90328738 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538654 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00984 esv1347608 1 90314072 90314072 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635618 S 2 1 0 "" HuRef esv1590548 1 90422013 90422013 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4211785 S 2 1 0 "" HuRef esv1416558 1 90432907 90432907 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3962338 S 2 1 0 "" HuRef nsv524317 1 90502332 90609327 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700219 S 2026 1 0 "" nsv521123 1 90543154 90609327 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697801 S 2026 1 0 "" nsv870546 1 90556028 90589167 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518818 S 6533 1 0 "" SP58215 dgv69e1 1 90592580 90755887 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11089,essv687,essv8860,essv10460,essv1493,essv8452,essv3009,essv9678,essv20080,esv449,essv11978,essv23551,essv21000,essv4179,essv21552,essv5565,essv8747,essv10936,essv4878,essv14605,essv15217,essv4691,essv18419,essv10575,essv24681,essv16105,essv6250,essv18431,essv13766,essv23223,essv6567,essv15784,essv15145,essv21329,essv10143,essv52,essv7592,essv24073,essv15848,essv14885,essv18955,essv585,essv20273,essv1349,essv8618,essv14273,essv12477,essv10212,essv8152,essv16520,essv1949,essv10367,essv4601,essv19257,essv11706,essv5024,essv17282,essv11591,essv6979,essv4730,essv11843,essv23893,essv13034,essv7410,essv24895,essv16351,essv7329,essv15697,essv17119,essv7836,essv5940,essv2080,essv6957,essv24885,essv21702,essv23500,essv12388,essv1627,essv17512,essv20583,essv23134,essv12169,essv16007,essv769,essv2178,essv11019,essv1112,essv3187,essv11937,essv9433,essv24247,essv7195,essv22966,essv20348,essv19754,essv3129,essv24983,essv10348,essv360 M 271 0 0 "" NA06991,NA06993,NA06994,NA07000,NA07029,NA07034,NA07048,NA07056,NA07357,NA10835,NA10838,NA10839,NA10856,NA10859,NA11829,NA11831,NA12005,NA12144,NA12236,NA12248,NA12249,NA12762,NA12814,NA12873,NA12878,NA12891,NA18501,NA18502,NA18506,NA18508,NA18515,NA18516,NA18517,NA18522,NA18524,NA18526,NA18529,NA18545,NA18547,NA18550,NA18558,NA18561,NA18570,NA18576,NA18582,NA18612,NA18620,NA18621,NA18622,NA18623,NA18636,NA18856,NA18859,NA18912,NA18913,NA18942,NA18949,NA18956,NA18959,NA18960,NA18964,NA18969,NA18971,NA18974,NA18975,NA18980,NA18981,NA18991,NA18998,NA19007,NA19092,NA19093,NA19094,NA19100,NA19101,NA19129,NA19130,NA19131,NA19143,NA19152,NA19153,NA19154,NA19171,NA19173,NA19193,NA19194,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19238,NA19239,NA19240 nsv428124 1 90592580 90755887 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450598,nssv450564,nssv450542,nssv450587,nssv450553,nssv450576,nssv450531 M 62 7 0 "" HGDP00449,HGDP01093,HGDP01094,NA18916,NA19113,NA19147,NA19181 esv1566075 1 90616913 90616913 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675572 S 2 1 0 "" HuRef esv1968809 1 90630770 90631244 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4761222 S 1 0 1 "" NA18507 esv271531 1 90687055 90688743 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509824,essv2496430,essv2501202,essv2506231,essv2508718,essv2497311,essv2512966,essv2500021,essv2508230,essv2499913,essv2504571,essv2507813,essv2500640,essv2500116,essv2507652,essv2512681,essv2508117,essv2509996,essv2496125,essv2499258,essv2512901,essv2505316,essv2507094,essv2509137,essv2511642,essv2504886,essv2503085,essv2503464,essv2502471,essv2512351,essv2493135,essv2500496,essv2503691,essv2496024,essv2495177,essv2502673,essv2500788,essv2512788,essv2505668,essv2501352,essv2504630,essv2498945,essv2502133,essv2495740 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA18508,NA18510,NA18516,NA18523,NA18532,NA18545,NA18547,NA18558,NA18561,NA18562,NA18563,NA18564,NA18571,NA18573,NA18576,NA18577,NA18579,NA18593,NA18603,NA18605,NA18609,NA18853,NA18870,NA18909,NA18940,NA18942,NA18943,NA18947,NA18948,NA18949,NA18951,NA18956,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19114,NA19257 nsv870816 1 90790793 90913784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585456 S 6533 0 1 "" IS37467 dgv8n21 1 90876473 90880886 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526338,nsv520091 M 2026 0 2 "" nsv522034 1 90880569 90883599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694804 S 2026 0 1 "" esv2376491 1 90905109 90905564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722668 S 1 0 1 "" NA18507 nsv506944 1 90910947 90916947 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619242,nssv623277 M 4 2 0 "" NA10860,NA18994 nsv508024 1 90998556 91004556 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621473 S 4 0 1 "" NA15510 nsv159370 1 91208825 91215100 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177948 M 24 ZNF644 nsv506945 1 91304184 91310184 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619243 S 4 1 0 "" NA10860 esv2629414 1 91396425 91398037 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281218 S 1 0 1 "" NA18507 esv2244606 1 91397174 91397853 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608664 S 1 0 1 "" NA18507 esv3593 1 91397323 91397849 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26034 S 1 0 1 Single Asian sample YH "" YH esv6992 1 91397367 91397634 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29433 S 1 0 1 "" SJK esv1206038 1 91397375 91397658 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957492 S 2 0 1 "" HuRef esv2540009 1 91470595 91471846 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291173 S 1 0 1 "" NA18507 esv5793 1 91509665 91509722 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28234 S 1 1 0 HFM1 SJK nsv871685 1 91547046 91621807 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568089 S 6533 0 1 HFM1 IS31205 nsv437904 1 91563464 91573795 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467742,nssv471634 M 269 0 2 Samples from several populations that are part of the HapMap project. HFM1 NA07000,NA07029 nsv519110 1 91566836 91573534 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696586 S 2026 0 1 HFM1 esv3976 1 91686630 91687270 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26417 S 1 0 1 Single Asian sample YH "" YH esv1004784 1 91686683 91687137 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580538 S 3 0 1 "" HuRef esv1066125 1 91686683 91687138 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4362600 S 2 0 1 "" HuRef esv6603 1 91686685 91687142 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29044 S 1 0 1 "" SJK esv267416 1 91711486 91711715 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508024,essv2505296 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12003,NA18853 esv2452061 1 91741094 91742558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197666 S 1 0 1 CDC7 NA18507 nsv513637 1 91901164 91905197 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626889 S 1 0 0 "" 1 nsv513638 1 91904374 91908304 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626890 S 1 0 0 "" 1 nsv821208 1 91906517 91907556 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420436 S 1 0 1 "" NA10851 esv2649223 1 91906524 91908255 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207434 S 1 0 1 "" NA18507 esv28546 1 91906701 91907556 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13624 S 451 0 13 "" NA11894,NA11931,NA12004,NA12156,NA12489,NA12878,NA18505,NA18508,NA18858,NA18907,NA18909,NA19114,NA19240 esv1960868 1 91906713 91907580 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865496 S 1 0 1 "" NA18507 esv988019 1 91906816 91907536 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586761 S 3 0 1 "" HuRef esv1589048 1 91906929 91907541 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248887 S 2 0 1 "" HuRef nsv528991 1 91964122 91970750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705693 S 2026 0 1 TGFBR3 nsv462517 1 91988313 92371293 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538662 S 1557 1 0 BRDT,BTBD8,EPHX4,TGFBR3 1780862574_A nsv524845 1 91988313 92371293 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700847 S 2026 1 0 BRDT,BTBD8,EPHX4,TGFBR3 esv988308 1 92000498 92009523 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563805 S 3 0 1 TGFBR3 HuRef esv989733 1 92004651 92005922 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582040 S 3 0 1 TGFBR3 HuRef esv25877 1 92004671 92006010 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16892 S 451 0 22 TGFBR3 NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18505,NA18511,NA18909,NA19099,NA19108,NA19257 nsv823520 1 92005070 92005913 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424747,nssv1424164,nssv1430354,nssv1421458,nssv1431082 M 31 0 5 TGFBR3 AK16,AK18,AK2,NA18947,NA18997 nsv525320 1 92008636 92010755 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701430 S 2026 0 1 TGFBR3 nsv519291 1 92013273 92021283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655226,nssv689194 M 2026 0 2 TGFBR3 nsv830581 1 92089795 92283763 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447795 S 95 0 1 BRDT,EPHX4,TGFBR3 dgv264n71 1 92113272 92414195 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871415,nsv871144 M 6533 2 0 BRDT,BTBD8,EPHX4,KIAA1107,TGFBR3 IS33403,IS33590 esv2750842 1 92129369 92352263 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982715,essv6988574,essv6988573,essv6986250,essv6982716 M 771 1 0 BRDT,BTBD8,EPHX4,TGFBR3 BEC_583 nsv871606 1 92216713 92310692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512714 S 6533 0 1 BRDT,EPHX4 SP55597 nsv871508 1 92250718 92554167 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571422 S 6533 1 0 BRDT,BTBD8,C1orf146,EPHX4,GLMN,KIAA1107,RPAP2 IS32732 nsv1855 1 92283399 92313921 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1257 S 9 1 0 EPHX4 NA19240 dgv265n71 1 92340851 92380585 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870471,nsv871948 M 6533 0 2 BTBD8 SP51226,SP54561 nsv441700 1 92351832 92357103 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 BTBD8 nsv823531 1 92377578 92378092 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431822 S 31 1 0 BTBD8 AK20 nsv830592 1 92441870 92578217 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447806,nssv1447817,nssv1447828 M 95 3 0 C1orf146,GLMN,RPAP2 esv259509 1 92451484 92451746 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394165 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1158594 1 92451656 92451656 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334392 S 2 1 0 "" HuRef esv2133890 1 92453758 92454172 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790795 S 1 0 1 "" NA18507 nsv159130 1 92453942 92453993 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177708 M 24 "" nsv870667 1 92469776 92586329 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517956 S 6533 0 1 C1orf146,GLMN,RPAP2 SP57418 nsv518196 1 92490254 92499728 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695620 S 2026 0 1 GLMN dgv266n71 1 92533715 92586329 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871352,nsv871387,nsv870854 M 6533 0 4 GLMN,RPAP2 SP50649,SP54579,SP55683,SP55878 nsv523354 1 92703851 92837411 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699103 S 2026 1 0 EVI5,GFI1 esv2513593 1 92709429 92710830 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342980 S 1 0 1 "" NA18507 nsv830603 1 92776245 92944794 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447839 S 95 0 1 EVI5 esv2533438 1 92939497 92940395 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206076 S 1 1 0 EVI5 NA18507 esv269509 1 92940082 92940436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514594,essv2516761,essv2517447,essv2516965,essv2514038,essv2518784,essv2514816,essv2518442,essv2515001,essv2516619,essv2515590,essv2516044,essv2517685,essv2516269,essv2516915,essv2517373,essv2519069,essv2514001,essv2515261,essv2518921,essv2518318,essv2513587 M 157 22 0 Samples from several populations that are part of the HapMap project. EVI5 NA07347,NA11840,NA11881,NA11918,NA11931,NA12043,NA12045,NA12234,NA12287,NA12812,NA12814,NA12815,NA12873,NA12878,NA12891,NA12892,NA18970,NA19141,NA19143,NA19238,NA19239,NA19240 esv274271 1 92940089 92940431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582226,essv2582510,essv2582882,essv2583958,essv2584641,essv2583534 M 7 6 0 Samples from several populations that are part of the HapMap project. EVI5 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1001160 1 92940106 92940106 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571023 S 3 1 0 EVI5 HuRef esv1233172 1 92940108 92940108 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322889 S 2 1 0 EVI5 HuRef nsv159896 1 92940119 92940119 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178474 M 24 EVI5 nsv871263 1 92968861 93020816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517399 S 6533 0 1 EVI5 SP57270 esv1938423 1 93008511 93014093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656585 S 1 0 1 EVI5 NA18507 nsv508393 1 93063101 93117512 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620136 S 4 0 1 FAM69A,RPL5,SNORA66,SNORD21 NA15510 nsv511706 1 93063665 93066984 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626347 S 1 0 1 "" 1 nsv506946 1 93091036 93097036 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619244 S 4 1 0 FAM69A NA10860 nsv830614 1 93238566 93451288 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447851 S 95 0 1 CCDC18,MTF2,TMED5 nsv870775 1 93254228 93315707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553064 S 6533 0 1 "" MS19721 esv2542620 1 93270480 93271435 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272248 S 1 1 0 "" NA18507 esv269239 1 93270782 93271121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565630,essv2575925,essv2540947,essv2571752,essv2546395,essv2521064,essv2525965,essv2542256,essv2536616,essv2522838,essv2544113,essv2570885,essv2556490,essv2568171,essv2545592,essv2523270,essv2531696,essv2577490,essv2570638,essv2548594,essv2521878,essv2576525,essv2525479,essv2534965,essv2554138,essv2544259,essv2552186,essv2520555,essv2547254,essv2529084,essv2558315,essv2564761,essv2578049,essv2553837,essv2559531,essv2565244,essv2576406,essv2519950,essv2555077,essv2530768,essv2561952,essv2537441,essv2528387,essv2546667,essv2520807,essv2557454,essv2556823,essv2552471,essv2551766,essv2532280,essv2562628,essv2569355,essv2578535,essv2550160,essv2558731,essv2537067,essv2538881,essv2569831,essv2527353,essv2561715,essv2544928,essv2562893,essv2523680,essv2553044,essv2540280,essv2524390,essv2565174,essv2534806,essv2561261,essv2539868,essv2549316,essv2519594,essv2560158,essv2521992,essv2566292,essv2531264,essv2567802,essv2528755,essv2541553,essv2570202,essv2563594,essv2553407,essv2535635,essv2572395,essv2559315,essv2566835,essv2542104,essv2551047,essv2568906,essv2543562,essv2556404,essv2528029,essv2562296,essv2539391,essv2533913,essv2578201,essv2572937,essv2555329,essv2533698,essv2555498,essv2566546,essv2529906,essv2574010,essv2527603,essv2557651,essv2555904,essv2531303,essv2573339,essv2577038,essv2572106,essv2525761,essv2526967,essv2529636,essv2575781,essv2575366,essv2538840,essv2526638,essv2560598,essv2524243,essv2574801,essv2572760,essv2568738,essv2545073,essv2549790,essv2571323,essv2545896,essv2574204,essv2551244,essv2536361,essv2538057,essv2548673,essv2533269,essv2554344,essv2547628,essv2524771,essv2563502,essv2557924 M 157 137 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18961,NA18964,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240,NA19257 esv274500 1 93270783 93271120 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582139,essv2582454,essv2582875,essv2584315,essv2584466,essv2583574 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1420154 1 93270814 93270814 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713897 S 2 1 0 "" HuRef nsv508404 1 93319971 93352600 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620137 S 4 0 1 MTF2 NA15510 nsv1866 1 93333518 93365481 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10116 S 9 1 0 MTF2 NA18956 nsv830625 1 93338966 93507834 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447862,nssv1447873 M 95 0 2 CCDC18,MTF2,TMED5 nsv523951 1 93566439 93567751 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699799 S 2026 1 0 LOC100131564 nsv871640 1 93579710 93726057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581811 S 6533 0 1 DR1,FNBP1L,LOC100131564 IS35742 esv8503 1 93971792 93971869 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30944 S 1 1 0 "" SJK esv27510 1 93985447 93986230 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10207 S 451 0 1 "" NA18858 nsv1877 1 94020344 94065496 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4403 S 9 0 1 "" NA12878 esv2442893 1 94022793 94024382 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168512 S 1 0 1 "" NA18507 esv2062392 1 94023845 94024549 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994824 S 1 0 1 "" NA18507 esv2595696 1 94024047 94024359 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375463 S 1 0 1 "" NA18507 nsv160444 1 94024056 94024368 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179022 M 24 "" nsv508415 1 94028710 94077927 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618980 S 4 0 1 "" NA10860 esv1005153 1 94054293 94055950 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565354 S 3 0 1 "" HuRef esv1003322 1 94058373 94067108 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564045 S 3 0 1 "" HuRef esv27447 1 94060875 94063950 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13802 S 451 25 4 "" NA07037,NA07045,NA11931,NA12004,NA12006,NA12044,NA12414,NA12489,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv56n67 1 94060875 94064172 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823542,nsv823575,nsv823553,nsv823564 M 31 0 23 "" AK10,AK14,AK16,AK18,AK2,AK20,AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18592,NA18947,NA18949,NA18951,NA18968,NA18997,NA18999 nsv821520 1 94060875 94064172 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420447 S 1 0 1 "" NA10851 esv5334 1 94060904 94063940 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27775 S 1 0 1 Single Asian sample YH "" YH dgv4e180 1 94060915 94063825 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994079,esv988321 M 3 0 1 "" HuRef esv33739 1 94060932 94063617 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101590,essv101430,essv98762,essv97476,essv100724,essv94775,essv94359,essv95703,essv95718,essv101663,essv97267,essv98580,essv93261,essv98073,essv100334,essv98493 M 51 9 6 "" 21603,21606,21616,21656,21791,21808,21841,21909,22075,22085,22170,22259,22300,22352 esv1011314 1 94060961 94063844 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578967 S 3 0 1 "" HuRef esv1112742 1 94060963 94063847 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749755 S 2 0 1 "" HuRef esv8088 1 94060966 94063850 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30529 S 1 0 1 "" SJK esv33428 1 94076771 94076982 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99503 S 51 0 1 "" 22335 esv998151 1 94114256 94115699 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565342 S 3 1 0 DNTTIP2 HuRef nsv523355 1 94123916 94158179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699104 S 2026 0 1 GCLM esv269350 1 94147036 94147121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516522 S 157 1 0 Samples from several populations that are part of the HapMap project. GCLM NA12814 nsv516137 1 94176826 94277133 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701005,nssv667306,nssv666445 M 2026 0 3 ABCA4 esv25414 1 94218459 94219162 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11096 S 451 0 1 "" NA18511 nsv871172 1 94277133 94308134 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597950 S 6533 1 0 ABCA4 IS41041 nsv871057 1 94285730 94349874 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593806 S 6533 1 0 ABCA4 IS39522 dgv267n71 1 94316864 94350332 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871558,nsv870555 M 6533 2 0 ABCA4 IS34769,IS41041 dgv268n71 1 94338899 94407616 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871416,nsv871210 M 6533 0 3 ABCA4,ARHGAP29 IS34572,IS37639,MS22353 dgv269n71 1 94351641 94382066 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871306,nsv871502,nsv870932 M 6533 0 3 ABCA4 IS36640,MS22146,MS22765 nsv871679 1 94352014 94371156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555236 S 6533 0 1 ABCA4 MS21249 nsv523430 1 94354837 94364069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699185 S 2026 0 1 ABCA4 nsv1888 1 94465557 94497544 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10121 S 9 1 0 ARHGAP29 NA18956 nsv506947 1 94471906 94477906 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619245,nssv620663,nssv617534,nssv623278 M 4 4 0 ARHGAP29 CHM,NA10860,NA15510,NA18994 nsv160026 1 94533854 94533854 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178604 M 24 "" esv2040800 1 94622427 94622859 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881615 S 1 0 1 "" NA18507 nsv871097 1 94623031 94714478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526311 S 6533 0 1 ABCD3 SP57165 nsv506948 1 94641199 94647199 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623279,nssv617535 M 4 2 0 "" CHM,NA18994 nsv871764 1 94689990 94776672 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519637 S 6533 0 1 ABCD3,F3 SP50101 esv1930968 1 94715645 94716097 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629526 S 1 0 1 ABCD3 NA18507 esv3120 1 94715766 94715990 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25561 S 1 0 1 Single Asian sample YH ABCD3 YH nsv1899 1 94772965 94802346 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5731 S 9 1 0 F3 NA19129 dgv270n71 1 94777808 94856424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871391,nsv870696 M 6533 0 2 F3 IS35605,IS40890 nsv871279 1 94801569 94856424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557407 S 6533 0 1 "" MS22662 nsv519997 1 94856424 94886005 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682195,nssv660008 M 2026 2 0 "" nsv1910 1 94872971 94884460 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7369 S 9 0 1 "" NA12156 dgv70e1 1 94892378 94931191 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv923,essv8544 M 271 0 0 "" NA18503 nsv462528 1 94895106 94915431 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538669 S 1557 0 1 "" NINDS_196 nsv437227 1 94895153 94916136 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467108 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18503 nsv517330 1 94901134 94925850 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682512,nssv673773,nssv667439,nssv689057,nssv676921,nssv663391,nssv671038,nssv665818,nssv659108,nssv676310,nssv676041,nssv674073,nssv690090,nssv652159,nssv651765,nssv668801,nssv653383,nssv683852,nssv688252,nssv687433,nssv674890,nssv693954,nssv684295,nssv679707,nssv692602,nssv689497,nssv679672,nssv651736,nssv686522,nssv682479,nssv669860 M 2026 0 31 "" nsv871001 1 94901134 94944479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585722 S 6533 0 1 "" IS37639 nsv436535 1 94901379 94927828 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466162 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2421913 1 94903266 94926867 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5091332,essv5116224,essv5126136,essv5135292,essv5105619,essv5160942,essv5048309,essv5132299,essv5040433,essv5111271,essv5030523,essv5093302,essv5010555,essv5107250,essv5029954,essv5067255,essv5021609,essv5055537,essv5116417,essv5136635,essv5100660,essv5007392 M 1184 0 22 "" NA18487,NA18498,NA18503,NA18505,NA18855,NA18916,NA18923,NA19107,NA19109,NA19142,NA19153,NA19175,NA19390,NA19393,NA19398,NA19434,NA20317,NA20360,NA21414,NA21491,NA21620,NA21741 nsv442927 1 94903354 94927987 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv470726 1 94904517 94925850 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547754,nssv547753,nssv547752,nssv547755 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00921,HGDP00924,HGDP00939,HGDP01031 nsv818267 1 94904517 94925850 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418359,nssv1418370,nssv1416292 M 112 0 3 "" NA18855,NA19141,NA19142 dgv23n27 1 94904517 94926867 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462561,nsv462550,nsv462539 M 1557 0 3 "" HGDP00924,HGDP00939,HGDP01031 nsv513993 1 94905120 94927544 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627352 S 1414 0 1 "" esv34973 1 94906767 94924401 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987871,essv6989206 M 771 0 1 "" NA19141 dgv71e1 1 94906770 94931191 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15969,essv17390,essv8251,essv12006 M 271 0 0 "" NA18855,NA19141,NA19142,NA19153 esv28208 1 94907386 94928588 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12694 S 451 0 2 "" NA18505,NA18916 nsv437915 1 94910672 94925850 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467786,nssv467775,nssv467808,nssv467764,nssv467753,nssv467797 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18503,NA18505,NA19141,NA19142 nsv871916 1 94916587 94961818 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579168 S 6533 0 1 "" IS35028 nsv437229 1 94919152 94925850 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467110 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19142 nsv437228 1 94919152 94937024 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467109 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18503 nsv10372 1 94929786 94931628 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12755,nssv15439,nssv15110,nssv18074,nssv19414,nssv14756,nssv15121,nssv16097 M 31 8 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA18517,NA18563,NA18572,NA18853,NA19007,NA19240 nsv506949 1 95070655 95076655 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619246 S 4 1 0 SLC44A3 NA10860 esv267890 1 95107793 95107878 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515524 S 157 1 0 Samples from several populations that are part of the HapMap project. SLC44A3 NA12249 esv272153 1 95115256 95115348 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521183,essv2542605,essv2544118,essv2556619,essv2568158,essv2545661,essv2570353,essv2544230,essv2552124,essv2547526,essv2559606,essv2520010,essv2541384,essv2538217,essv2564926,essv2539581,essv2522169,essv2566044,essv2567514,essv2563697,essv2535530,essv2572530,essv2578217,essv2555223,essv2566670,essv2573298,essv2577077,essv2571902,essv2547765 M 157 29 0 Samples from several populations that are part of the HapMap project. SLC44A3 NA07347,NA11894,NA11919,NA11992,NA11994,NA11995,NA12003,NA12044,NA12414,NA12489,NA12717,NA12776,NA12815,NA18545,NA18547,NA18558,NA18563,NA18571,NA18572,NA18582,NA18603,NA18608,NA18609,NA18940,NA18943,NA18948,NA18969,NA18970,NA18973 nsv830636 1 95268437 95475714 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447884,nssv1447895,nssv1447906 M 95 0 3 ALG14,RWDD3,TMEM56,TMEM56-RWDD3 esv993631 1 95284029 95284029 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583009 S 3 1 0 ALG14 HuRef esv1116942 1 95284124 95284124 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946796 S 2 1 0 ALG14 HuRef esv5799 1 95294842 95298531 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28240 S 1 0 1 ALG14 SJK nsv498675 1 95294847 95298528 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585387 S 9 0 1 ALG14 dgv57n67 1 95295609 95298495 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823598,nsv823587 M 31 0 9 ALG14 AK4,AK8,NA18537,NA18547,NA18592,NA18942,NA18972,NA18973,NA18999 nsv513994 1 95295808 95298528 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627463 S 1414 0 1 ALG14 nsv823609 1 95355206 95356335 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431824 S 31 0 1 TMEM56,TMEM56-RWDD3 AK20 nsv870669 1 95359361 95462857 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523738 S 6533 0 1 TMEM56,TMEM56-RWDD3 SP54177 esv2641534 1 95462611 95464265 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282920 S 1 0 1 TMEM56-RWDD3 NA18507 esv2291039 1 95462944 95463563 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780076 S 1 0 1 TMEM56-RWDD3 NA18507 esv4625 1 95463045 95463609 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27066 S 1 0 1 Single Asian sample YH TMEM56-RWDD3 YH nsv160810 1 95463099 95463417 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179388 M 24 TMEM56-RWDD3 nsv823620 1 95485314 95485776 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424749 S 31 1 0 RWDD3 AK2 nsv10384 1 95525331 95539837 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18090 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv830648 1 95532750 95698852 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447917 S 95 1 0 "" nsv529002 1 95553805 95577590 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705709 S 2026 1 0 "" nsv1921 1 95563395 95593001 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6770 S 9 1 0 "" NA12156 esv272046 1 95574411 95574496 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514686,essv2519274,essv2514845,essv2514931 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11894,NA12234,NA12812 nsv1932 1 95821976 95852980 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10136 S 9 1 0 "" NA18956 nsv528711 1 95860780 95912608 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705361 S 2026 0 1 "" nsv524690 1 95912608 95916021 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700662 S 2026 0 1 "" nsv520561 1 95926933 95927332 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672546,nssv682567 M 2026 0 2 "" nsv1943 1 95963139 95995350 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10141 S 9 1 0 "" NA18956 esv2422262 1 96033916 96165291 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161551 S 181 1 0 "" ND03704 nsv517226 1 96069014 96078021 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687390,nssv663535,nssv669918,nssv676841,nssv652160,nssv656771,nssv671039,nssv654067,nssv685283 M 2026 0 9 "" nsv830659 1 96167308 96321508 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447928 S 95 1 0 "" esv270784 1 96176315 96176667 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511835,essv2494243,essv2502928,essv2509778,essv2494950,essv2506094,essv2507259,essv2494040,essv2501502,essv2510842,essv2499743 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18502,NA18507,NA18508,NA18520,NA18523,NA18870,NA18871,NA19093,NA19116,NA19225 dgv72e1 1 96188339 96318702 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4921,esv82 M 271 0 0 "" NA18561 esv2625541 1 96218596 96219615 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247375 S 1 1 0 "" NA18507 esv1921051 1 96255510 96255931 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923634 S 1 0 1 "" NA18507 nsv159649 1 96255669 96255752 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178227 M 24 "" esv1671934 1 96255714 96255796 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314688 S 2 0 1 "" HuRef nsv160662 1 96255788 96255847 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179240 M 24 "" nsv10395 1 96258416 96261328 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18450 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv273697 1 96272828 96273018 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580533,essv2578875 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv32612 1 96297173 96303501 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94337,essv100304 M 51 2 0 "" 21808,22300 nsv830670 1 96313768 96498068 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447939 S 95 1 0 "" esv1162130 1 96503844 96503844 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259117 S 2 1 0 "" HuRef esv1563982 1 96504023 96504023 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271679 S 2 1 0 "" HuRef nsv870970 1 96536113 96654919 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600389 S 6533 0 1 "" IS41877 nsv871820 1 96601142 96696685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556675 S 6533 0 1 "" MS22109 nsv428135 1 96611970 96626934 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450609 S 62 1 0 "" NA19113 esv1451799 1 96641529 96641529 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720085 S 2 1 0 "" HuRef esv1958733 1 96762259 96762693 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733837 S 1 0 1 "" NA18507 nsv1954 1 96855710 96900674 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7383 S 9 0 1 "" NA12156 nsv830681 1 96938374 97110652 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447950,nssv1447962 M 95 0 2 PTBP2 esv2540979 1 97041183 97042182 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347653 S 1 1 0 PTBP2 NA18507 esv271046 1 97041677 97041780 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504291,essv2502940,essv2513432,essv2506748 M 157 4 0 Samples from several populations that are part of the HapMap project. PTBP2 NA18505,NA18507,NA18907,NA19108 nsv1966 1 97060429 97105088 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7392 S 9 0 1 "" NA12156 nsv870494 1 97106807 97212079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584014 S 6533 0 1 "" IS36787 nsv522619 1 97213485 97219771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706015 S 2026 0 1 "" nsv1977 1 97222772 97247205 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10147 S 9 1 0 "" NA18956 nsv830692 1 97274080 97397741 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447973,nssv1447984 M 95 1 1 DPYD esv7816 1 97283673 97284202 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30257 S 1 0 0 "" SJK esv2523572 1 97368502 97369895 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348872 S 1 0 1 DPYD NA18507 esv2167618 1 97368752 97369166 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994144 S 1 0 1 DPYD NA18507 nsv470728 1 97475913 97534560 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547757 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPYD HGDP01397 esv271356 1 97490197 97490519 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546627,essv2525829,essv2542396,essv2522708,essv2531909,essv2548173,essv2529170,essv2540065,essv2569250,essv2556286 M 157 10 0 Samples from several populations that are part of the HapMap project. DPYD NA11881,NA11918,NA11919,NA11931,NA12006,NA12045,NA12749,NA18489,NA18508,NA18871 nsv871536 1 97516636 97544535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551263 S 6533 0 1 DPYD MS18847 nsv1988 1 97531295 97561135 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10150 S 9 1 0 DPYD NA18956 nsv871806 1 97628195 97657788 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539237 S 6533 0 1 DPYD MS14268 nsv870572 1 97634825 97648960 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509126 S 6533 0 1 DPYD SP54753 nsv830703 1 97680296 97873732 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448039,nssv1447995,nssv1448006,nssv1448017,nssv1448028 M 95 2 3 DPYD nsv519191 1 97717880 97773449 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696674 S 2026 0 1 DPYD nsv871449 1 97722622 97751905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554734 S 6533 0 1 DPYD MS20957 nsv1999 1 97752143 97780408 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10951 S 9 1 0 DPYD NA15510 nsv160842 1 97763944 97764122 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179420 M 24 DPYD nsv871708 1 97776496 97829163 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586756 S 6533 0 1 DPYD IS37974 nsv830714 1 97797678 98002004 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448050 S 95 1 0 DPYD nsv528034 1 97810767 97814308 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704566 S 2026 1 0 DPYD dgv9n21 1 97810767 97823244 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518604,nsv521057 M 2026 3 0 DPYD esv268955 1 97831527 97831914 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510654,essv2501199 M 157 2 0 Samples from several populations that are part of the HapMap project. DPYD NA18501,NA18516 nsv2010 1 97895704 97940014 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2217 S 9 0 1 DPYD NA18555 dgv271n71 1 97937679 98137898 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871472,nsv871651,nsv871740,nsv870596,nsv871050 M 6533 0 14 DPYD