variantaccession chr start end varianttype variantsubtype reference pubmedid method platform mergedvariants supportingvariants mergedorsample frequency samplesize observedgains observedlosses cohortdescription genes samples nsv7879 1 10001 127330 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray 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,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 dgv2n71 1 10001 846808 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871664,nsv871113 M 6533 3 0 FAM138A,FAM138F,FAM41C,LINC00115,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC643837,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5,WASH7P IS30771,IS39243,IS41043 dgv1e1 1 10377 177417 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,LOC729737,OR4F5,WASH7P NA18860,NA18994,NA19129,NA19130,NA19159,NA19211,NA19223 nsv428112 1 10377 177417 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450130 S 62 1 0 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P HGDP01088 dgv3e1 1 10377 1018704 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array 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,LOC643837,LOC729737,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,RNF223,SAMD11,WASH7P NA18502,NA18547,NA18572,NA18573,NA18947 esv27265 1 10499 177368 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19430,esv19525,esv16041,esv17542,esv14423,esv20178,esv15038 M 451 32 6 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P NA06985,NA07037,NA11894,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv469759 1 27980 177346 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649780 M 265 14 0 Samples from several populations that are part of the HapMap project. FAM138A,FAM138F,LOC729737,OR4F5,WASH7P nsv471591 1 27981 177346 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550437,nssv550435,nssv550438,nssv550436 M 48 0 4 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P NA10492,NA10970,NA10971,NA17051 nsv437198 1 55394 86303 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467079 S 60 0 1 Samples from several populations that are part of the HapMap project. OR4F5 NA19208 nsv437859 1 66008 79078 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 68497 70627 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628442 S 1414 0 0 OR4F5 nsv161172 1 88190 89153 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179750 M 24 "" esv991724 1 136181 137326 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 176262 177360 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14779 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18572 nsv870793 1 237881 717485 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 317720 471368 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 317720 471368 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 317720 643032 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 317770 471337 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17876,esv20401,esv15703,esv9873,esv10639,esv13800,esv15785,esv13367,esv14573,esv16611,esv20387 M 451 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 317874 425175 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 318139 470924 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547890,nssv547887,nssv547888 M 3 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 dgv1n14 1 321799 466601 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 348092 641599 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 367049 368179 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628443 S 1414 0 0 OR4F16,OR4F29,OR4F3 nsv871303 1 399824 606093 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570906 S 6533 0 1 "" IS32329 esv994970 1 436729 461014 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 esv1004360 1 461061 471368 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 dgv6e1 1 521369 643032 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 521413 724071 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20880,esv17670,esv17928,esv16417,esv18879,esv12525,esv10580,esv18811,esv12770,esv17045,esv19173,esv19351,esv17998,esv17284 M 451 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 521458 547879 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 522139 756783 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547897,nssv547898,nssv547899 M 3 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 nsv830758 1 539255 656750 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 564434 649747 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 564477 706368 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433346,nsv433347 M 9 2 0 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 NA12156,NA19240 nsv820617 1 564540 570775 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419880 S 1 1 0 "" NA10851 nsv871459 1 565698 625584 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 nsv831869 1 579492 743311 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 632918 812484 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 632918 998289 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AGRN,C1orf170,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC100133331,LOC100288069,LOC643837,NOC2L,PLEKHN1,SAMD11 NA18620 nsv870961 1 674932 756439 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 699045 802630 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 706368 776546 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 712111 1708649 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 717919 744073 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619756 S 4 1 0 "" NA10860 nsv510950 1 717919 747342 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621648,nssv624357 M 4 0 0 "" NA15510,NA18994 nsv513729 1 724132 726937 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626981 S 1 1 0 "" 1 esv26272 1 724314 727245 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17593 S 451 0 4 "" NA11894,NA12006,NA12287,NA12828 nsv820807 1 724314 727245 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420291 S 1 1 0 "" NA10851 esv2713915 1 726720 727137 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961443,essv6921667 M 96 0 2 "" SSM018,SSM027 esv2656593 1 738618 742106 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5805894 S 1151 0 1 "" NA19000 dgv1n67 1 746408 849937 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 752566 799463 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34681,esv34886 M 771 2 0 LINC00115,LOC643837 NA18620,NA18947 essv2408 1 752566 1018704 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. AGRN,C1orf159,C1orf170,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC643837,NOC2L,PLEKHN1,RNF223,SAMD11 NA18976 nsv517709 1 752566 1211292 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 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 754193 762622 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14965 S 451 1 0 LINC00115 NA18916 esv33946 1 754205 779756 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101171,essv96332 M 51 2 0 LINC00115,LOC643837 21618,22371 esv2713916 1 755671 756823 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6679102,essv6925638,essv6821118,essv6972236,essv6902471,essv6937615,essv6846928,essv6832527,essv6828947,essv6703800,essv6892259,essv6913942,essv6876308,essv6950479,essv6780792,essv6839905,essv6917364,essv6813123,essv6941722,essv6836112,essv6967856,essv6714176,essv6961444,essv6682789,essv6710539,essv6859129,essv6909990,essv6675157,essv6675156,essv6946436 M 96 0 29 "" SSM012,SSM013,SSM015,SSM016,SSM017,SSM019,SSM022,SSM023,SSM024,SSM025,SSM027,SSM028,SSM029,SSM032,SSM033,SSM034,SSM040,SSM042,SSM043,SSM068,SSM077,SSM079,SSM081,SSM082,SSM083,SSM084,SSM086,SSM088,SSM098 dgv1e201 1 756248 758841 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2746029,esv2725027 M 96 0 38 "" SSM003,SSM009,SSM016,SSM017,SSM020,SSM024,SSM026,SSM027,SSM031,SSM032,SSM033,SSM039,SSM043,SSM045,SSM047,SSM049,SSM055,SSM056,SSM058,SSM066,SSM067,SSM069,SSM070,SSM071,SSM073,SSM079,SSM083,SSM085,SSM086,SSM087,SSM088,SSM091,SSM093,SSM094,SSM095,SSM096,SSM098,SSM100 esv1032937 1 756267 756267 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703690 S 2 1 0 "" HuRef esv2736138 1 756301 756354 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6846928 S 96 0 1 "" SSM086 esv2743807 1 756312 756571 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6859129,essv6675157 M 96 0 2 "" SSM032,SSM088 esv2744918 1 756340 756432 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6859129 S 96 0 1 "" SSM088 esv2747140 1 757864 758041 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6773385 S 96 0 1 "" SSM066 nsv871252 1 761147 824293 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 763807 802630 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 763807 851190 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 766101 809773 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM41C,LOC643837 esv2748251 1 766408 769112 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6695432,essv6759010 M 96 0 2 LOC643837 SSM006,SSM061 esv2661847 1 766593 769112 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6345187,essv5518894,essv6563096,essv5519573,essv6555045,essv5520084,essv6295988,essv6192957,essv6542198,essv5523850,essv6355316,essv5539265,essv6512898,essv5900400,essv6482771,essv5809976,essv6276121,essv5557684,essv6418188,essv6047722,essv6287654,essv5781826,essv6509658,essv6030252,essv6309202,essv5583588,essv5590254,essv5616233,essv5935659,essv6041253,essv5632149,essv5654029,essv5813808,essv5803927,essv5707758,essv6021317,essv6027023,essv6067864,essv5403827,essv5448104,essv5451591,essv5469214,essv6064913,essv6060841,essv5758742,essv6137789,essv5901179,essv5500219,essv5952876 M 1151 0 49 LOC643837 HG00448,HG00463,HG00512,HG00513,HG00553,HG00557,HG00583,HG00584,HG00608,HG00614,HG00620,HG00651,HG00663,HG00690,HG01066,HG01204,HG01359,HG01494,NA18553,NA18557,NA18564,NA18565,NA18573,NA18592,NA18595,NA18609,NA18613,NA18620,NA18873,NA18951,NA18964,NA18984,NA18985,NA18990,NA18999,NA19004,NA19066,NA19070,NA19074,NA19080,NA19083,NA19087,NA19213,NA19239,NA19461,NA19473,NA19655,NA19657,NA19747 nsv298 1 772399 792659 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3151 S 9 1 0 LOC643837 NA12878 esv2749362 1 774752 774809 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6853155 S 96 0 1 LOC643837 SSM087 esv2713917 1 774759 774921 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6846930,essv6876319,essv6929011,essv6967857 M 96 0 4 LOC643837 SSM012,SSM020,SSM028,SSM086 esv2715028 1 774866 774926 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6954639 S 96 0 1 LOC643837 SSM026 esv2663916 1 776769 791881 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6345413,essv5826571,essv6143600,essv6094713,essv6257481,essv5463605,essv6020202 M 1151 0 7 LOC643837 HG01350,HG01357,HG01359,HG01374,HG01375,HG01389,HG01491 nsv832980 1 783659 942417 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443740 S 95 1 0 C1orf170,FAM41C,HES4,KLHL17,LOC100130417,LOC643837,NOC2L,PLEKHN1,SAMD11 esv2716139 1 788933 789202 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6950480 S 96 0 1 LOC643837 SSM025 esv1517733 1 789021 789070 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242314 S 2 0 1 LOC643837 HuRef nsv508924 1 789759 820329 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619757 S 4 1 0 FAM41C NA10860 esv1069885 1 802251 802251 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978908 S 2 1 0 "" HuRef nsv428334 1 809751 1155949 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450908 S 62 1 0 AGRN,C1orf159,C1orf170,FAM41C,HES4,ISG15,KLHL17,LOC100130417,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10 HGDP00467 esv991325 1 811077 811838 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 812998 1361880 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825030,nsv826141 M 31 2 0 ACAP3,AGRN,AURKAIP1,B3GALT6,C1orf159,C1orf170,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,HES4,ISG15,KLHL17,LOC100130417,LOC148413,LOC254099,LOC441869,MIR200A,MIR200B,MIR429,MRPL20,MXRA8,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 NA18968,NA18969 nsv509035 1 826786 921104 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 830181 882033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871644,nsv871061 M 6533 0 3 LOC100130417,NOC2L,SAMD11 SP54725,SP54988,SP55021 nsv871883 1 830181 1030565 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 830181 1074624 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 830181 1194804 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 830181 1691050 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 esv2718361 1 839721 840201 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 8 "" SSM027,SSM040,SSM058,SSM069,SSM070,SSM086,SSM087,SSM098 esv2719472 1 839876 840034 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 "" SSM070,SSM086,SSM087 esv2720583 1 844478 845112 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM053 esv1562509 1 844600 844866 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716763 S 2 0 1 "" HuRef nsv511670 1 869251 870860 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626307 S 1 0 1 SAMD11 1 esv27608 1 869310 870347 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10036 S 451 24 12 SAMD11 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 esv2721694 1 869354 870256 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 79 SAMD11 SSM002,SSM004,SSM005,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM015,SSM016,SSM017,SSM018,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM030,SSM031,SSM032,SSM033,SSM034,SSM035,SSM037,SSM039,SSM040,SSM042,SSM044,SSM045,SSM046,SSM049,SSM052,SSM053,SSM055,SSM056,SSM057,SSM058,SSM059,SSM061,SSM062,SSM063,SSM064,SSM065,SSM066,SSM067,SSM068,SSM070,SSM071,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM085,SSM087,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 esv989364 1 869415 870347 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 869471 869583 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110931 S 2 0 1 SAMD11 HuRef esv1062785 1 869596 870324 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275138 S 2 0 1 SAMD11 HuRef esv2722805 1 871328 871946 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 17 SAMD11 SSM007,SSM010,SSM017,SSM021,SSM025,SSM032,SSM033,SSM043,SSM047,SSM053,SSM056,SSM066,SSM082,SSM084,SSM086,SSM091,SSM093 esv2066434 1 871493 871867 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643302 S 1 0 1 SAMD11 NA18507 esv2723916 1 871507 871904 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 SAMD11 SSM032,SSM082,SSM084,SSM091,SSM093 esv2663451 1 873417 874049 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5957539,essv6117771,essv5748399,essv5733502 M 1151 0 4 SAMD11 HG00543,NA18544,NA19012,NA19074 nsv870660 1 886384 918384 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 888659 1192515 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 895967 901095 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558397 S 1 1 0 KLHL17 KB1 esv2725028 1 899471 900513 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 13 KLHL17 SSM005,SSM013,SSM024,SSM026,SSM027,SSM029,SSM045,SSM050,SSM061,SSM063,SSM073,SSM086,SSM091 esv2726139 1 899983 900154 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 KLHL17 SSM005,SSM013,SSM024,SSM026,SSM029,SSM045,SSM073 esv1003697 1 900011 900085 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 esv2727250 1 900042 900230 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 KLHL17 SSM026,SSM091 nsv159315 1 900149 900224 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177893 M 24 KLHL17 esv1001028 1 911055 913734 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 esv2670613 1 911645 915192 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5905036,essv6370075,essv5535610,essv5541532,essv6480133,essv6317482,essv6313757,essv6204209,essv6555599,essv6128474,essv6436893,essv6021580,essv5563021,essv5955626,essv5564928,essv5567082,essv6387100,essv6469348,essv6449523,essv5572747,essv6199706,essv5768893,essv6587307,essv6483725,essv6467493,essv6186898,essv6502636,essv6418259,essv5584422,essv6099762,essv5925242,essv6585690,essv5601933,essv6263463,essv6005729,essv6159415,essv6400366,essv5738531,essv5615197,essv5615808,essv6402564,essv5620498,essv6187040,essv6279545,essv5762189,essv5718556,essv6535946,essv5641324,essv6042185,essv5836989,essv6327372,essv5905964,essv6314870,essv5973675,essv6376621,essv6442790,essv6237379,essv6598157,essv6443495,essv6134181,essv5993200,essv5841281,essv5889195,essv5681970,essv5712285,essv6085046,essv5779263,essv5703177,essv5703730,essv6010738,essv6430927,essv6430407,essv6102802,essv5789556,essv5962986,essv6016618,essv5821063,essv5975232,essv5724880,essv5944648,essv5710426,essv5781640,essv6338447,essv5787081,essv6185252,essv6189900,essv6099101,essv5840689,essv5723792,essv5963116,essv6078680,essv6523376,essv6536645,essv6191793,essv6389326,essv5833597,essv6263431,essv5804523,essv6284507,essv6464009,essv5778222,essv6324543,essv6480331,essv6109108,essv5419278,essv5422914,essv6327051,essv5854734,essv6553074,essv5861730,essv5441563,essv5442020,essv6267868,essv6227956,essv6191383,essv5452156,essv5864207,essv6068647,essv5869388,essv5462014,essv6521104,essv6330051,essv5871535,essv5467419,essv5471639,essv6255541,essv5475375,essv5477110,essv5684098,essv6505246,essv6325639,essv6150879,essv5482863,essv6423047,essv5486053,essv5680397,essv6560863,essv5489577,essv5911759,essv5495292,essv5773855,essv5500942,essv5506395,essv5914563,essv6526343,essv6379774 M 1151 0 146 C1orf170 NA18526,NA18530,NA18532,NA18534,NA18535,NA18536,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18555,NA18557,NA18558,NA18559,NA18560,NA18561,NA18563,NA18565,NA18566,NA18567,NA18570,NA18573,NA18574,NA18576,NA18577,NA18579,NA18592,NA18593,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18606,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18940,NA18941,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18950,NA18951,NA18952,NA18953,NA18956,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18980,NA18981,NA18982,NA18983,NA18984,NA18985,NA18986,NA18987,NA18988,NA18989,NA18990,NA18999,NA19000,NA19003,NA19004,NA19005,NA19007,NA19009,NA19012,NA19054,NA19055,NA19056,NA19058,NA19059,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088 esv2728361 1 911978 912280 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 C1orf170 SSM040,SSM083 esv1165796 1 912278 913308 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038215 S 2 0 1 C1orf170 HuRef dgv12n71 1 918384 1389478 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 esv2729472 1 928428 928532 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM046 esv997839 1 928681 930764 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 928836 1106473 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 929190 977780 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 esv2730583 1 931569 931965 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM084 nsv159328 1 931665 931730 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177906 M 24 "" esv1776849 1 931780 931780 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713900 S 2 1 0 "" HuRef nsv159419 1 931981 932111 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177997 M 24 "" esv2731694 1 932060 932311 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 25 "" SSM017,SSM025,SSM026,SSM027,SSM028,SSM033,SSM039,SSM042,SSM043,SSM045,SSM046,SSM053,SSM065,SSM067,SSM070,SSM072,SSM075,SSM076,SSM077,SSM083,SSM084,SSM095,SSM096,SSM098,SSM099 nsv827252 1 934105 936507 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436318 S 31 1 0 HES4 NA18542 nsv828363 1 944680 948776 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436320,nssv1434856 M 31 1 1 "" NA18542,NA18942 nsv509146 1 945890 1046568 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619759,nssv621080 M 4 2 0 AGRN,C1orf159,ISG15,RNF223 NA10860,NA15510 esv2665646 1 947121 948001 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6082937,essv5634163,essv6062495 M 1151 0 3 "" NA19338,NA19359,NA19401 dgv14n71 1 948958 994391 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870603,nsv870473,nsv870533 M 6533 0 4 AGRN,ISG15 SP50159,SP54593,SP54657,SP55992 dgv15n71 1 949654 1012525 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 950508 979748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511160 S 6533 0 1 AGRN SP55019 esv2732805 1 952322 952549 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM039 dgv16n71 1 959842 987200 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870594,nsv871495 M 6533 0 2 AGRN SP54672,SP54967 nsv871557 1 962720 1012525 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 963659 964480 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19930 S 451 0 6 AGRN NA11931,NA12044,NA12414,NA12749,NA12776,NA19240 esv987912 1 963820 964480 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 963838 964567 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26856 S 1 0 1 Single Asian sample YH AGRN YH esv2674475 1 963871 964481 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5515175,essv5515257,essv6212079,essv5734294,essv6031648,essv5915311,essv5519265,essv6175781,essv5958628,essv6401814,essv5525377,essv5885429,essv6371427,essv6117995,essv6027655,essv6474371,essv5533171,essv5534660,essv5980381,essv6510320,essv6573154,essv5543982,essv5544079,essv6204902,essv6462535,essv5819196,essv5552270,essv6337876,essv6425065,essv6432453,essv5840741,essv5765836,essv5987883,essv6463649,essv6584245,essv5977948,essv5789270,essv5574524,essv5994815,essv6105732,essv5578565,essv5579307,essv6286261,essv6029294,essv6150676,essv5741053,essv6071729,essv5586667,essv6177663,essv5589591,essv5993590,essv6301862,essv5885638,essv5795116,essv5672078,essv5596252,essv5809115,essv5597778,essv5600714,essv5601728,essv5722499,essv5607185,essv5929362,essv5607932,essv5613816,essv5614201,essv5803925,essv5615962,essv6154985,essv6412237,essv6000145,essv5620395,essv5987847,essv6152898,essv5629256,essv6241223,essv6067524,essv6339703,essv5942233,essv6032236,essv6048979,essv6427750,essv6325568,essv6262010,essv5992380,essv6168761,essv5916857,essv5674953,essv5763678,essv5655999,essv5657075,essv6559100,essv6096713,essv6512480,essv6261633,essv6510454,essv6054853,essv6016807,essv6192230,essv6239917,essv6215092,essv6030509,essv6243124,essv6158394,essv5829646,essv5821062,essv5824591,essv6221043,essv6001928,essv6269485,essv6275093,essv5819882,essv5782186,essv6452440,essv5714107,essv6211448,essv5750218,essv5666985,essv6386003,essv6535245,essv6261205,essv5718506,essv6336428,essv5670392,essv5700942,essv5758458,essv5929634,essv5700798,essv6229256,essv6178153,essv6379238,essv5397305,essv6450578,essv6418029,essv6572780,essv6054536,essv6332345,essv6197367,essv5766055,essv6293236,essv6338714,essv6412469,essv6123918,essv5853566,essv6051709,essv6320707,essv6482402,essv6085598,essv6504358,essv6368059,essv5775808,essv5438152,essv6043080,essv6479044,essv5694805,essv5441289,essv6461709,essv5443079,essv6362474,essv6461713,essv6147838,essv5448884,essv6070502,essv6352021,essv5456064,essv6434262,essv6445789,essv5460067,essv6198018,essv6493518,essv6596508,essv5462103,essv5870748,essv6069837,essv5870935,essv5464919,essv6453590,essv5466613,essv5680961,essv6019519,essv6197707,essv6579614,essv5729992,essv6349109,essv6283772,essv6498080,essv5759307,essv6460718,essv6510298,essv5484641,essv6424714,essv5912544,essv5491037,essv5717079,essv5493240,essv6467904,essv6471857,essv6018657,essv6347242,essv5964725,essv6273537,essv6168477,essv6022508,essv5509723,essv5770283,essv5793300,essv5771704,essv5512746,essv6183968,essv5978321 M 1151 0 210 AGRN HG00108,HG00116,HG00123,HG00124,HG00125,HG00136,HG00137,HG00138,HG00140,HG00146,HG00151,HG00159,HG00160,HG00173,HG00180,HG00185,HG00187,HG00231,HG00237,HG00242,HG00245,HG00246,HG00247,HG00250,HG00251,HG00252,HG00253,HG00268,HG00273,HG00274,HG00275,HG00276,HG00277,HG00280,HG00281,HG00306,HG00310,HG00311,HG00319,HG00323,HG00325,HG00326,HG00327,HG00328,HG00342,HG00345,HG00353,HG00357,HG00361,HG00366,HG00367,HG00375,HG00419,HG00443,HG00449,HG00463,HG00500,HG00534,HG00537,HG00554,HG00565,HG00581,HG00590,HG00607,HG00608,HG00614,HG00640,HG00641,HG00654,HG00693,HG00699,HG00702,HG00708,HG00731,HG00732,HG00734,HG00736,HG00740,HG01047,HG01048,HG01052,HG01061,HG01070,HG01082,HG01124,HG01133,HG01134,HG01148,HG01197,HG01250,HG01334,HG01350,HG01353,HG01354,HG01359,HG01365,HG01366,HG01374,HG01375,HG01389,HG01390,HG01437,HG01456,HG01461,HG01489,HG01518,HG01522,HG01551,NA06984,NA06986,NA06989,NA11830,NA11919,NA11994,NA11995,NA12283,NA12342,NA12348,NA12546,NA12718,NA12763,NA12777,NA12842,NA18530,NA18536,NA18542,NA18545,NA18549,NA18557,NA18565,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18582,NA18592,NA18610,NA18611,NA18613,NA18616,NA18619,NA18632,NA18856,NA18861,NA18912,NA18947,NA18950,NA18980,NA18987,NA18989,NA18999,NA19003,NA19055,NA19057,NA19075,NA19076,NA19077,NA19078,NA19082,NA19084,NA19197,NA19316,NA19327,NA19347,NA19355,NA19371,NA19375,NA19439,NA19445,NA19451,NA19453,NA19462,NA19463,NA19471,NA19473,NA19648,NA19676,NA19703,NA19707,NA19722,NA19723,NA19780,NA19834,NA19904,NA19982,NA20276,NA20291,NA20346,NA20508,NA20510,NA20513,NA20516,NA20517,NA20525,NA20530,NA20531,NA20532,NA20539,NA20582,NA20585,NA20752,NA20756,NA20766,NA20778,NA20783,NA20796,NA20799,NA20808 esv2733916 1 963893 964444 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 15 AGRN SSM007,SSM012,SSM021,SSM026,SSM027,SSM028,SSM029,SSM032,SSM047,SSM065,SSM066,SSM068,SSM072,SSM079,SSM093 dgv2e201 1 964874 966343 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2739472,esv2735027,esv2737250 M 96 0 16 AGRN SSM016,SSM020,SSM024,SSM025,SSM026,SSM027,SSM032,SSM040,SSM047,SSM066,SSM068,SSM070,SSM072,SSM079,SSM083,SSM098 esv2736139 1 964904 965360 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 AGRN SSM026,SSM027,SSM032,SSM047,SSM066,SSM072,SSM079 esv6517 1 964981 965488 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28958 S 1 0 1 AGRN SJK esv2738361 1 965055 965360 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 AGRN SSM072 esv2740583 1 965600 966642 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 17 AGRN SSM004,SSM022,SSM024,SSM025,SSM026,SSM027,SSM031,SSM037,SSM038,SSM040,SSM045,SSM067,SSM070,SSM072,SSM082,SSM089,SSM098 esv2741694 1 965616 966326 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 AGRN SSM024,SSM025,SSM038,SSM045,SSM082,SSM098 esv1064309 1 965995 965995 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670093 S 2 1 0 AGRN HuRef esv2742805 1 976912 977355 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 23 AGRN SSM008,SSM017,SSM018,SSM024,SSM026,SSM028,SSM033,SSM036,SSM037,SSM039,SSM040,SSM043,SSM044,SSM064,SSM065,SSM066,SSM068,SSM070,SSM071,SSM075,SSM081,SSM082,SSM086 esv2743474 1 977125 977316 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 AGRN SSM024,SSM064,SSM075 nsv870874 1 980460 1029805 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 980460 1064979 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 991422 993857 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434857 S 31 0 1 AGRN NA18942 esv2743585 1 991582 991752 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 "" SSM033,SSM044,SSM046,SSM047 esv2743696 1 992034 992274 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 "" SSM036,SSM065,SSM075 nsv470680 1 1005806 1314015 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 1011188 1014828 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14645 S 451 1 11 "" NA11993,NA12489,NA12878,NA18502,NA18511,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19240 esv998069 1 1011248 1014683 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 esv2743808 1 1011285 1011473 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM037 esv2743919 1 1016097 1016307 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 "" SSM008,SSM065,SSM083,SSM100 nsv870663 1 1018704 1074624 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 1018704 1305561 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 1030851 1060065 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4677 S 9 1 0 C1orf159 NA19129 esv2744030 1 1034282 1035241 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 C1orf159 SSM026,SSM047 esv1010559 1 1034408 1035203 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 1034408 1035203 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10745 S 451 24 0 C1orf159 NA06985,NA12414,NA12749,NA12776,NA12828,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv1281251 1 1035015 1035015 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028372 S 2 1 0 C1orf159 HuRef dgv18n71 1 1044060 1119858 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 1044060 1192515 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 1044060 1415012 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 1044060 1658945 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 1044215 1044525 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179017 M 24 C1orf159 esv2744141 1 1044288 1044542 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 C1orf159 SSM012,SSM021,SSM029,SSM065 nsv870771 1 1049950 1074624 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 1051688 1051826 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92767,essv96399 M 51 0 2 C1orf159 21944,22371 nsv160193 1 1058914 1058993 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178771 M 24 "" esv2744252 1 1059260 1059716 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM027,SSM043 esv2744363 1 1070005 1071336 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM008 esv2630187 1 1073076 1076966 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357752 S 1 0 1 LOC254099 NA18507 esv26506 1 1074379 1076117 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13049 S 451 17 0 LOC254099 NA11894,NA12287,NA12414,NA12489,NA12749,NA15510,NA18502,NA18508,NA18517,NA18858,NA18861,NA18909,NA19099,NA19129,NA19147,NA19225,NA19257 nsv870527 1 1075834 1288583 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 1075907 1076089 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179595 M 24 LOC254099 esv2744474 1 1078555 1078970 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 LOC254099 SSM036 nsv469848 1 1081462 1257615 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 esv2661109 1 1082524 1082740 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6109554,essv6539385,essv5558210,essv6312301,essv5752766,essv6472005,essv6174128,essv6421375,essv5620762,essv5914448,essv5909645,essv5709461,essv6113329,essv5855617,essv5439413,essv5486707,essv5505211 M 1151 0 17 "" NA18499,NA18501,NA18502,NA18909,NA19099,NA19257,NA19360,NA19381,NA19382,NA19397,NA19403,NA19428,NA19439,NA19457,NA19704,NA19819,NA19920 esv2524046 1 1083767 1088804 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287439 S 1 0 1 "" NA18507 esv2744585 1 1084797 1085239 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM036 esv2587289 1 1084823 1090940 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220272 S 1 0 1 "" NA18507 esv2317109 1 1086650 1087181 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717325 S 1 0 1 "" NA18507 esv2658760 1 1086817 1087023 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6590372,essv5524307,essv6397614,essv5758836,essv6285851,essv5541179,essv6584683,essv5543990,essv6472528,essv5752437,essv6151097,essv5547316,essv6441748,essv5789536,essv6112738,essv5551811,essv6312211,essv6109219,essv6352878,essv5556663,essv6593567,essv5562204,essv6558511,essv5930632,essv6500540,essv5950181,essv6120409,essv5594183,essv6191112,essv5967220,essv6213083,essv5605063,essv6580572,essv5721563,essv6218597,essv5623466,essv6154341,essv5964072,essv6330566,essv5636104,essv6246174,essv5641794,essv6170234,essv5979653,essv6504951,essv6031457,essv6175521,essv6108284,essv6322689,essv5667785,essv6362912,essv5990107,essv6364011,essv5832949,essv6549704,essv5787568,essv6552168,essv6005063,essv6530899,essv5802239,essv6205532,essv5706693,essv6185848,essv6079984,essv5957822,essv5747770,essv5726655,essv5991720,essv5898145,essv6034389,essv6073157,essv5850006,essv5436201,essv5437205,essv6096407,essv5458106,essv5458632,essv5459848,essv5681798,essv5474265,essv6056921,essv5511013,essv6046705,essv5956005 M 1151 0 84 "" HG01098,HG01108,HG01171,HG01350,HG01360,HG01462,HG01497,NA11918,NA11992,NA18486,NA18488,NA18498,NA18501,NA18502,NA18504,NA18507,NA18520,NA18522,NA18853,NA18858,NA18861,NA18867,NA18907,NA18908,NA18909,NA18917,NA18933,NA19092,NA19093,NA19099,NA19116,NA19138,NA19144,NA19153,NA19172,NA19190,NA19198,NA19223,NA19225,NA19247,NA19248,NA19313,NA19315,NA19317,NA19319,NA19321,NA19328,NA19347,NA19359,NA19372,NA19373,NA19375,NA19376,NA19377,NA19379,NA19381,NA19382,NA19384,NA19385,NA19390,NA19393,NA19394,NA19397,NA19399,NA19403,NA19443,NA19453,NA19466,NA19474,NA19704,NA19716,NA19758,NA19818,NA19819,NA19835,NA19900,NA19920,NA20278,NA20294,NA20296,NA20299,NA20322,NA20332,NA20336 nsv509257 1 1087335 1124850 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619760 S 4 1 0 MIR200A,MIR200B,MIR429,TTLL10 NA10860 dgv21n71 1 1087683 1210963 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 esv2744696 1 1088630 1088870 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM036 nsv871744 1 1090557 1192515 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 nsv482937 1 1093942 1293942 CNV Loss Iafrate et al 2004 15286789 BAC_aCGH,FISH Spectral Genomics 2600 BAC array nssv650848 M 0 0 1 Twenty samples were obtained from normal individuals whose DNA are stored at the Coriell Cell Repository (Camden, New Jersey) with the following ethnic representation: 10 European/Caucasian, 4 Native American, 2 Chinese, 2 Indo-Pakistani, and 2 Sub-Saharan African. Twelve samples were from fixed cell pellets of cytogenetically normal individuals from the Brigham and Women's Cytogenetics Laboratory and 7 samples from cytogenetically normal individuals were obtained from the Hospital for Sick Children. ACAP3,B3GALT6,CPSF3L,DVL1,FAM132A,GLTPD1,MIR200A,MIR200B,MIR429,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 nsv871079 1 1099342 1121014 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 1099342 1305561 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 esv2744807 1 1103230 1103653 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 MIR200A SSM018,SSM020,SSM028,SSM072 nsv829536 1 1112147 1113089 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436321 S 31 1 0 TTLL10 NA18542 nsv871107 1 1120270 1210963 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 1130727 1194804 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 1131202 1142726 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 1131202 1156131 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 1131202 1171249 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 1135242 1142726 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 1135242 1152631 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871139,nsv871599 M 6533 0 2 SDF4,TNFRSF18,TNFRSF4 SP50159,SP55992 nsv871329 1 1135242 1254841 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 1135242 1380567 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 1137003 1138283 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14081 S 451 8 0 "" NA18511,NA18523,NA18861,NA18907,NA18909,NA19099,NA19147,NA19190 dgv26n71 1 1140435 1191870 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 1140870 1163964 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 esv2744919 1 1142640 1143167 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 51 "" SSM002,SSM003,SSM004,SSM005,SSM009,SSM010,SSM011,SSM013,SSM018,SSM019,SSM020,SSM024,SSM025,SSM026,SSM027,SSM029,SSM031,SSM032,SSM035,SSM037,SSM039,SSM040,SSM041,SSM042,SSM043,SSM045,SSM046,SSM047,SSM055,SSM057,SSM065,SSM067,SSM070,SSM071,SSM073,SSM076,SSM078,SSM079,SSM080,SSM081,SSM083,SSM084,SSM085,SSM086,SSM090,SSM092,SSM094,SSM095,SSM097,SSM099,SSM100 esv9332 1 1142708 1143139 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31773 S 1 0 1 "" SJK esv2673981 1 1142719 1143140 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6447551,essv5515576,essv5903725,essv6583114,essv6460089,essv5517206,essv5517797,essv5746960,essv5518716,essv5841447,essv6226909,essv6220846,essv6083679,essv6561033,essv5793601,essv6531799,essv5525837,essv5938008,essv5883717,essv6144046,essv6258016,essv6063198,essv6074043,essv5999100,essv5535991,essv5783493,essv5973359,essv6114438,essv6173656,essv5545854,essv6177899,essv6123419,essv6220496,essv5548255,essv6231889,essv5933284,essv5978628,essv6315900,essv6278709,essv6553343,essv6228976,essv6428860,essv6538666,essv5559069,essv5559627,essv5905120,essv5721341,essv5565444,essv5936962,essv5950163,essv5568792,essv6460871,essv6580334,essv6445344,essv6021886,essv5577522,essv6207338,essv5577785,essv6234077,essv5578554,essv5578606,essv6280172,essv6276421,essv5938197,essv5583578,essv6352121,essv6146097,essv6560586,essv5733303,essv5991660,essv6438293,essv6151804,essv6406899,essv5594683,essv6158659,essv6188254,essv5596504,essv5974899,essv6001217,essv5971444,essv5602057,essv6101186,essv6392240,essv5607310,essv6208875,essv6350182,essv6224800,essv5615034,essv5615341,essv5615345,essv5616249,essv5616664,essv5618107,essv5790385,essv6128686,essv5623261,essv5828027,essv6181789,essv5796220,essv5732879,essv5757575,essv5977635,essv6149675,essv6524753,essv6064219,essv5633920,essv5910672,essv5638447,essv6456001,essv6400391,essv5914728,essv6252430,essv6480469,essv6381288,essv5644417,essv5825826,essv6578498,essv5648964,essv5649812,essv6056766,essv6375782,essv5652419,essv5973645,essv5803129,essv6026203,essv5655953,essv5656577,essv5922588,essv5657226,essv6199767,essv5750987,essv6243422,essv5660197,essv6539319,essv5663198,essv6564758,essv6300674,essv6359108,essv6256029,essv6537251,essv6458867,essv5832123,essv5795930,essv6217750,essv5817051,essv6262209,essv6025649,essv5830102,essv5834192,essv5843050,essv6341849,essv5904698,essv5985350,essv6204433,essv6463915,essv5883227,essv6101258,essv5887860,essv5944582,essv6437407,essv6557644,essv6320910,essv6396639,essv6498297,essv6013025,essv5804443,essv6278188,essv6275996,essv5945444,essv5726618,essv5674877,essv6457377,essv6426568,essv6591878,essv5746061,essv5713207,essv6101279,essv6320340,essv6502810,essv6414527,essv6364636,essv5898963,essv6045437,essv6377477,essv5941008,essv5887466,essv5885018,essv5910221,essv5845678,essv5874172,essv5885998,essv6396964,essv5706433,essv5812347,essv5703075,essv6390017,essv6104290,essv6351628,essv6553185,essv6439682,essv6437150,essv5834705,essv6409217,essv6368260,essv5748924,essv6244536,essv6237721,essv6542299,essv6538355,essv5398394,essv6143825,essv6327643,essv6368218,essv5752385,essv5836591,essv6205811,essv6265257,essv5702989,essv5407641,essv5410354,essv5411481,essv6335967,essv6336469,essv6582863,essv5420730,essv6529541,essv6260022,essv6474836,essv6513521,essv5424544,essv5850739,essv5426116,essv6215106,essv5429106,essv5431171,essv6522474,essv6424641,essv6174159,essv6354596,essv5434081,essv6163227,essv5859573,essv6100913,essv6262943,essv6325266,essv6194663,essv6241074,essv5738934,essv5863471,essv6414667,essv5867308,essv5864128,essv5456664,essv6349629,essv6226006,essv6538862,essv5459892,essv6434770,essv5751448,essv5465256,essv5467001,essv5467091,essv5468369,essv5469789,essv5470790,essv5471121,essv5471360,essv5471503,essv5901085,essv6414705,essv6446815,essv6420303,essv5948251,essv6014100,essv6567171,essv6386945,essv5919286,essv5479749,essv5479850,essv6223357,essv5909372,essv5941170,essv6339144,essv6118569,essv5711626,essv6532865,essv5888259,essv6360631,essv5488749,essv5490777,essv6493220,essv5995640,essv5491686,essv6051065,essv5492773,essv6488935,essv5496017,essv6286183,essv5496511,essv6067469,essv5498166,essv5499361,essv5742494,essv5503996,essv6001694,essv5817920,essv6448880,essv6363574,essv5509795,essv5740683,essv6295641,essv6471445,essv5513375,essv5514109 M 1151 0 314 "" HG00111,HG00115,HG00136,HG00143,HG00152,HG00158,HG00190,HG00236,HG00246,HG00250,HG00253,HG00258,HG00269,HG00275,HG00313,HG00315,HG00318,HG00328,HG00335,HG00338,HG00346,HG00353,HG00373,HG00403,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00559,HG00560,HG00566,HG00577,HG00578,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00595,HG00596,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00628,HG00629,HG00634,HG00635,HG00650,HG00651,HG00653,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00704,HG00707,HG00708,HG00740,HG01047,HG01048,HG01055,HG01066,HG01069,HG01070,HG01079,HG01083,HG01124,HG01125,HG01136,HG01171,HG01174,HG01187,HG01204,HG01250,HG01251,HG01351,HG01354,HG01356,HG01357,HG01359,HG01440,HG01456,HG01462,HG01488,HG01489,HG01491,HG01492,HG01494,HG01550,NA07048,NA07056,NA07346,NA11843,NA11894,NA11918,NA12155,NA12249,NA12283,NA12286,NA12413,NA12718,NA12828,NA12829,NA12889,NA18526,NA18530,NA18534,NA18536,NA18537,NA18538,NA18539,NA18541,NA18543,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18555,NA18558,NA18559,NA18560,NA18566,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18623,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18638,NA18940,NA18941,NA18942,NA18943,NA18944,NA18947,NA18949,NA18950,NA18951,NA18953,NA18959,NA18960,NA18961,NA18963,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18981,NA18982,NA18983,NA18984,NA18985,NA18986,NA18987,NA18989,NA18990,NA18999,NA19000,NA19004,NA19005,NA19009,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19063,NA19064,NA19065,NA19066,NA19067,NA19070,NA19072,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088,NA19652,NA19655,NA19657,NA19658,NA19663,NA19664,NA19676,NA19679,NA19681,NA19682,NA19684,NA19719,NA19722,NA19728,NA19749,NA19755,NA19759,NA19770,NA19773,NA19776,NA19780,NA19785,NA19789,NA19900,NA20299,NA20317,NA20518,NA20529,NA20585,NA20770,NA20786,NA20792,NA20795,NA20796,NA20798,NA20800,NA20807,NA20809,NA20818 dgv27n71 1 1142862 1171249 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870938,nsv870832 M 6533 0 2 B3GALT6,SDF4,TNFRSF4 SP54591,SP54725 nsv455661 1 1152631 1211292 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533179 S 1557 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 1782681247_A nsv871327 1 1152631 1239935 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 1153093 1157960 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178465 M 24 SDF4 nsv870639 1 1158277 1288583 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 1158277 1305561 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 1158631 1190523 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 esv2745030 1 1161352 1162026 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 10 SDF4 SSM003,SSM007,SSM020,SSM022,SSM036,SSM038,SSM052,SSM081,SSM086,SSM087 esv2745141 1 1162437 1163122 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 SDF4 SSM007,SSM035,SSM052,SSM057,SSM086,SSM087 esv2745252 1 1162603 1162853 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 SDF4 SSM035,SSM086,SSM087 nsv821698 1 1164350 1169770 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433403 S 31 1 0 B3GALT6,SDF4 NA18526 esv33767 1 1168116 1169076 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95205,essv92753,essv96403 M 51 0 3 B3GALT6 21721,21944,22371 esv2745363 1 1179986 1180198 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 FAM132A SSM017,SSM028,SSM033,SSM046,SSM068 esv5277 1 1183198 1183861 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27718 S 1 0 1 Single Asian sample YH "" YH esv2668719 1 1183409 1183745 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6510773,essv5954327,essv6581210,essv5677508,essv6519482,essv6307777,essv6527997,essv6493791,essv6583372,essv6117765,essv6509430,essv5940370,essv6588959,essv5892946,essv6574790,essv5748541,essv6585409,essv5549681,essv6595273,essv6201177,essv5910444,essv6477402,essv6407286,essv5560832,essv6121162,essv6261554,essv6139409,essv6355570,essv5581180,essv5585922,essv6427194,essv6331138,essv6133384,essv6339447,essv5601093,essv6422432,essv5605806,essv6455939,essv6131316,essv6161479,essv6196338,essv5717657,essv6414921,essv5640761,essv6010561,essv6105175,essv6348798,essv5650707,essv6211939,essv5668182,essv5669228,essv5712419,essv5983254,essv6329865,essv6419526,essv5999528,essv5916807,essv6391109,essv6260648,essv5398259,essv6327485,essv6063925,essv6293240,essv6266824,essv5720768,essv5749614,essv5689300,essv5418766,essv5848923,essv6503217,essv6468715,essv6153278,essv5434280,essv6185697,essv6063511,essv5861847,essv6433471,essv6086244,essv5763188,essv6342496,essv6313643,essv5465241,essv6346924,essv5885116,essv5770629,essv6230316,essv5492979,essv6151367,essv5507509,essv6240718,essv6179947 M 1151 0 91 "" HG00103,HG00237,HG00260,HG00318,HG00334,HG00337,HG00345,HG00418,HG00421,HG00500,HG00531,HG00534,HG00536,HG00580,HG00584,HG00613,HG00614,HG00620,HG00651,HG00654,HG00656,HG00683,HG00692,HG00698,HG00699,HG00702,HG00704,HG00707,HG00708,HG01072,HG01334,HG01350,NA07357,NA12827,NA18489,NA18498,NA18499,NA18505,NA18530,NA18532,NA18534,NA18536,NA18542,NA18546,NA18549,NA18557,NA18561,NA18562,NA18563,NA18564,NA18566,NA18567,NA18572,NA18592,NA18593,NA18599,NA18605,NA18608,NA18610,NA18612,NA18613,NA18624,NA18635,NA18637,NA18923,NA18940,NA18953,NA18960,NA18977,NA19007,NA19102,NA19197,NA19327,NA19355,NA19359,NA19360,NA19371,NA19383,NA19391,NA19396,NA19397,NA19401,NA19463,NA19625,NA19704,NA19712,NA19786,NA20126,NA20289,NA20758,NA20796 esv2745474 1 1183459 1183833 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 18 "" SSM003,SSM014,SSM018,SSM020,SSM021,SSM022,SSM030,SSM035,SSM040,SSM042,SSM064,SSM068,SSM077,SSM078,SSM081,SSM086,SSM087,SSM088 esv2745585 1 1183765 1183992 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM079 esv1750792 1 1184373 1184637 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720664 S 2 0 1 "" HuRef esv2745696 1 1184723 1184982 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 23 "" SSM011,SSM013,SSM017,SSM026,SSM033,SSM034,SSM035,SSM039,SSM040,SSM050,SSM055,SSM057,SSM061,SSM068,SSM071,SSM073,SSM077,SSM078,SSM081,SSM094,SSM097,SSM099,SSM100 nsv817616 1 1192515 1242084 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417737 S 112 0 1 ACAP3,SCNN1D,UBE2J2 NA19003 dgv28n71 1 1194804 1305561 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 1199320 1319872 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 1201632 1305561 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 esv2745807 1 1204559 1204712 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 UBE2J2 SSM055 nsv870963 1 1206343 1249187 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 1211292 1399816 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 1211292 1462766 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 1220136 1389478 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 1220136 1493727 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 1220136 1745726 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 1222506 1248331 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870857,nsv871895 M 6533 0 3 ACAP3,CPSF3L,PUSL1,SCNN1D SP51042,SP54042,SP54967 esv25372 1 1223559 1225694 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20786 S 451 2 14 SCNN1D NA12004,NA12006,NA12044,NA12287,NA12414,NA12878,NA15510,NA18505,NA18508,NA18511,NA18907,NA18909,NA18916,NA19099,NA19129,NA19257 esv2106414 1 1223568 1225749 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4728356 S 1 0 1 SCNN1D NA18507 nsv499366 1 1223580 1225633 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585600 S 9 1 0 SCNN1D dgv1e199 1 1223581 1225588 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2677875,esv2668981 M 1151 0 33 SCNN1D HG00136,HG00442,HG00501,HG00543,HG00581,HG00613,HG01055,HG01060,HG01079,HG01198,HG01342,NA11994,NA18523,NA18632,NA18853,NA18870,NA19056,NA19088,NA19213,NA19257,NA19346,NA19398,NA19439,NA19448,NA19451,NA19452,NA19462,NA19625,NA19722,NA19834,NA20332,NA20542,NA20586 esv1004967 1 1223644 1225609 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 esv2745918 1 1223769 1225389 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 SCNN1D SSM083,SSM098 nsv511671 1 1223858 1225621 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626308 S 1 0 1 SCNN1D 1 esv1653789 1 1223947 1224229 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908676 S 2 0 1 SCNN1D HuRef esv1027332 1 1224273 1225316 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148647 S 2 0 1 SCNN1D HuRef esv2746030 1 1224985 1225711 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 SCNN1D SSM047 esv1323061 1 1225406 1225406 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960677 S 2 1 0 SCNN1D HuRef dgv36n71 1 1228171 1249187 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870813,nsv871109 M 6533 0 2 ACAP3,CPSF3L,PUSL1 SP54725,SP54979 nsv160950 1 1229112 1229112 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179528 M 24 ACAP3 esv3050 1 1232448 1233224 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25491 S 1 0 1 Single Asian sample YH ACAP3 YH esv2746141 1 1232542 1233084 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 86 ACAP3 SSM001,SSM004,SSM005,SSM006,SSM008,SSM009,SSM010,SSM011,SSM013,SSM015,SSM016,SSM017,SSM018,SSM019,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM030,SSM031,SSM032,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM042,SSM043,SSM044,SSM045,SSM046,SSM047,SSM049,SSM052,SSM053,SSM055,SSM056,SSM057,SSM058,SSM059,SSM061,SSM062,SSM063,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM100 dgv37n71 1 1237829 1249187 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 esv2746252 1 1239079 1239248 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 ACAP3 SSM020,SSM023,SSM028,SSM068,SSM080 nsv870491 1 1239339 1295323 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 1242084 1389478 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 1258246 1295323 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870913,nsv871211 M 6533 0 3 CPSF3L,DVL1,GLTPD1,MXRA8,TAS1R3 SP54043,SP54684,SP54725 esv2746363 1 1278075 1278606 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 DVL1 SSM019,SSM033 nsv511672 1 1285180 1286870 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626309 S 1 0 1 "" 1 esv23965 1 1285400 1286900 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19242 S 451 16 0 "" NA06985,NA12239,NA12414,NA15510,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129 esv988609 1 1285400 1286900 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 esv2746474 1 1298983 1305387 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 43 "" SSM006,SSM007,SSM011,SSM018,SSM019,SSM021,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM034,SSM035,SSM037,SSM038,SSM040,SSM041,SSM044,SSM045,SSM046,SSM052,SSM056,SSM066,SSM067,SSM068,SSM069,SSM072,SSM074,SSM076,SSM077,SSM078,SSM080,SSM081,SSM082,SSM086,SSM087,SSM088,SSM089,SSM094,SSM097,SSM098 esv2746585 1 1302129 1302957 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 41 "" SSM006,SSM007,SSM011,SSM018,SSM021,SSM025,SSM026,SSM027,SSM028,SSM031,SSM032,SSM034,SSM035,SSM037,SSM038,SSM040,SSM041,SSM044,SSM045,SSM046,SSM052,SSM056,SSM066,SSM067,SSM068,SSM069,SSM072,SSM074,SSM076,SSM077,SSM078,SSM080,SSM081,SSM082,SSM086,SSM087,SSM088,SSM089,SSM094,SSM097,SSM098 esv2746696 1 1302269 1302537 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 39 "" SSM007,SSM011,SSM018,SSM025,SSM026,SSM027,SSM028,SSM031,SSM032,SSM034,SSM035,SSM037,SSM038,SSM040,SSM041,SSM044,SSM045,SSM046,SSM052,SSM056,SSM066,SSM067,SSM068,SSM069,SSM072,SSM074,SSM076,SSM077,SSM078,SSM080,SSM081,SSM082,SSM086,SSM087,SSM088,SSM089,SSM094,SSM097,SSM098 esv3820 1 1302378 1302825 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26261 S 1 0 1 Single Asian sample YH "" YH esv9582 1 1302563 1302882 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32023 S 1 0 1 "" SJK nsv871837 1 1310924 1636637 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 1314015 1745726 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 1317297 1317998 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193104 S 1 1 0 "" NA18507 esv2746807 1 1317676 1318429 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 12 "" SSM015,SSM027,SSM029,SSM031,SSM036,SSM037,SSM041,SSM046,SSM047,SSM067,SSM070,SSM096 esv2746918 1 1317748 1318106 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 "" SSM027,SSM036,SSM037,SSM041,SSM046,SSM070,SSM096 essv5472 1 1324529 1516550 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ATAD3A,ATAD3B,ATAD3C,C1orf70,CCNL2,LOC148413,LOC441869,MRPL20,SSU72,TMEM88B,VWA1 NA18632 dgv9e1 1 1324529 2024338 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array 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 1338596 1385211 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 esv2747029 1 1347412 1347537 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM039 esv2747141 1 1347642 1353907 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 LOC441869 SSM004,SSM039,SSM041,SSM047,SSM088,SSM095,SSM099 nsv871787 1 1353380 1380567 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 1362430 1363536 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10423 S 451 1 0 TMEM88B NA06985 esv2747252 1 1368259 1368482 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM080 dgv41n71 1 1376147 1439671 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870939,nsv871420 M 6533 2 0 ATAD3B,ATAD3C,VWA1 SP53490,SP54401 nsv482135 1 1385069 1405538 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558496 S 1 1 0 ATAD3C KB1 esv2747363 1 1389998 1458505 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 32 ATAD3A,ATAD3B,ATAD3C SSM001,SSM013,SSM016,SSM020,SSM023,SSM025,SSM026,SSM027,SSM028,SSM033,SSM037,SSM040,SSM041,SSM043,SSM044,SSM045,SSM046,SSM052,SSM057,SSM059,SSM062,SSM067,SSM068,SSM070,SSM074,SSM078,SSM080,SSM081,SSM089,SSM094,SSM095,SSM097 esv2747474 1 1395206 1440202 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 24 ATAD3B,ATAD3C SSM013,SSM020,SSM025,SSM026,SSM027,SSM028,SSM037,SSM040,SSM041,SSM043,SSM044,SSM045,SSM046,SSM052,SSM057,SSM059,SSM062,SSM067,SSM070,SSM078,SSM080,SSM089,SSM095,SSM097 dgv42n71 1 1399816 1509034 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871029,nsv870563 M 6533 0 2 ATAD3A,ATAD3B,ATAD3C,C1orf70,SSU72 IS31656,SP54988 dgv43n71 1 1399816 1658945 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 esv2662001 1 1400322 1408950 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5912105 S 1151 0 1 ATAD3B,ATAD3C NA19722 nsv482146 1 1407164 1431581 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558507 S 1 1 0 ATAD3B KB1 esv1254392 1 1413349 1413349 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989689 S 2 1 0 ATAD3B HuRef esv2661503 1 1414245 1416792 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6214666,essv5843579,essv6367328,essv5562046,essv6275133,essv6007146,essv6372532,essv6158256,essv6315584,essv5583587,essv6369700,essv5587762,essv6428187,essv5978113,essv6270841,essv5846416,essv6564232,essv5975062,essv6587240,essv5714896,essv6347901,essv5673238,essv6250432,essv6132856,essv6060091,essv5863834,essv6064386,essv5508008,essv5843575 M 1151 0 29 ATAD3B NA19652,NA19655,NA19660,NA19661,NA19663,NA19676,NA19682,NA19685,NA19716,NA19717,NA19722,NA19723,NA19725,NA19726,NA19731,NA19732,NA19746,NA19747,NA19750,NA19755,NA19756,NA19758,NA19759,NA19771,NA19776,NA19785,NA19786,NA19788,NA19789 esv25832 1 1414909 1416195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11756 S 451 0 3 ATAD3B NA18511,NA18523,NA18861 nsv871421 1 1415099 1451380 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 1415099 1474167 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 1418116 1620859 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 1425700 1722585 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 esv2747585 1 1430395 1444240 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 ATAD3B SSM001,SSM023,SSM025,SSM068,SSM081,SSM089,SSM094 esv2747696 1 1431234 1469835 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 79 ATAD3A,ATAD3B SSM004,SSM006,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM033,SSM035,SSM036,SSM038,SSM039,SSM040,SSM042,SSM043,SSM044,SSM046,SSM047,SSM049,SSM050,SSM052,SSM053,SSM056,SSM057,SSM059,SSM061,SSM062,SSM063,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM088,SSM089,SSM091,SSM094,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 esv2659109 1 1443563 1445764 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6564617,essv5716610,essv6135295,essv5958348,essv6274829,essv5913103,essv6474698,essv6107643,essv6427354,essv5626254,essv6161076,essv5627421,essv6148352,essv6056791,essv6343375,essv5685136,essv6588406,essv5885089,essv5405437,essv6068180,essv5950686 M 1151 0 21 "" HG01075,HG01082,HG01108,HG01140,NA19130,NA19313,NA19315,NA19317,NA19371,NA19374,NA19376,NA19381,NA19384,NA19390,NA19395,NA19429,NA19444,NA19446,NA19449,NA19467,NA19701 nsv821809 1 1443968 1447519 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428013 S 31 1 0 "" AK10 nsv821920 1 1443968 1463826 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440791 S 31 1 0 ATAD3A NA18969 nsv482157 1 1447555 1470064 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558518 S 1 1 0 ATAD3A KB1 nsv871540 1 1462766 1706136 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 1462766 1722585 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 esv2747807 1 1465847 1466222 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 38 ATAD3A SSM004,SSM006,SSM008,SSM009,SSM011,SSM013,SSM014,SSM020,SSM021,SSM024,SSM025,SSM027,SSM031,SSM032,SSM042,SSM043,SSM044,SSM046,SSM049,SSM050,SSM052,SSM056,SSM057,SSM062,SSM065,SSM067,SSM069,SSM071,SSM075,SSM077,SSM078,SSM081,SSM082,SSM086,SSM089,SSM094,SSM097,SSM098 esv2658581 1 1465911 1466230 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6281476,essv5928241,essv6596805,essv5520380,essv6247479,essv5884375,essv6108372,essv5522114,essv6214095,essv6079796,essv6287869,essv6040829,essv6205353,essv5527150,essv6122795,essv5527698,essv6518871,essv5528890,essv6117756,essv5531638,essv6286765,essv5812123,essv6142004,essv5538350,essv6273412,essv5732240,essv6279719,essv5541808,essv6482893,essv5993427,essv6226627,essv5821996,essv6317091,essv5551173,essv6539627,essv5553146,essv6367525,essv5553769,essv6324178,essv5931672,essv6326756,essv5554792,essv6221054,essv5555363,essv6279475,essv5557211,essv6140657,essv5813001,essv6391429,essv6093191,essv6197313,essv6066088,essv6479147,essv5825216,essv6240991,essv5568689,essv6416002,essv5963869,essv6318757,essv5671787,essv6347709,essv5678946,essv6130279,essv6072748,essv6474611,essv6032109,essv6425592,essv5998119,essv6224876,essv5578213,essv6337906,essv5878788,essv6471708,essv5580450,essv6156669,essv6086549,essv6518177,essv5901561,essv6397483,essv5588497,essv6199770,essv6059203,essv6211165,essv5594774,essv6598371,essv5597132,essv6357829,essv5597594,essv6367867,essv5886508,essv6258489,essv5598870,essv6154276,essv5599977,essv6279148,essv5601026,essv6113627,essv5604347,essv6553516,essv5749533,essv6172914,essv6042587,essv6290555,essv5989514,essv6577184,essv5609173,essv6432023,essv5609533,essv6457568,essv5969045,essv6211568,essv5612794,essv6510252,essv5614655,essv6554091,essv5800780,essv6419027,essv5801413,essv6175357,essv5616806,essv6186717,essv5623987,essv6178089,essv5978467,essv6395439,essv5939784,essv6246072,essv5628085,essv6307412,essv5628239,essv6133414,essv5932490,essv6585173,essv5630193,essv6479552,essv5631465,essv6199429,essv5631905,essv6465710,essv6063579,essv6231944,essv5633943,essv6344023,essv5635976,essv6581596,essv5993762,essv6191951,essv6058176,essv6589722,essv5640187,essv6410581,essv5820972,essv6228720,essv5641125,essv6234765,essv5641262,essv6445387,essv6042582,essv6586974,essv5643959,essv6531665,essv5979075,essv6396485,essv5648702,essv6523508,essv5650338,essv6244691,essv5650442,essv6469707,essv6072390,essv6300044,essv5959060,essv6175237,essv5940742,essv6185820,essv6027434,essv6287490,essv6012078,essv6212988,essv5816004,essv6425893,essv5834945,essv6317076,essv6011613,essv6520422,essv5937129,essv6548233,essv6103904,essv6194183,essv5991070,essv6186597,essv5990101,essv6497970,essv5883171,essv6204344,essv5670867,essv6302686,essv5813678,essv6469356,essv5673467,essv6430631,essv5747726,essv6399190,essv5675590,essv6464835,essv6044419,essv6154431,essv5677732,essv6432025,essv5786024,essv6247281,essv6011467,essv6343716,essv5882887,essv6265122,essv6005572,essv6146300,essv5683825,essv6197366,essv5688132,essv6161424,essv5959211,essv6131969,essv5787953,essv6519435,essv5694863,essv6266096,essv5780437,essv6339707,essv5700240,essv6225800,essv5701080,essv6134604,essv5799072,essv6494184,essv5712435,essv6500668,essv5712611,essv6361569,essv5714389,essv6129291,essv5991250,essv6443605,essv5997694,essv6239221,essv5722394,essv6241924,essv5723921,essv6391818,essv5723953,essv6488077,essv5724642,essv6452456,essv5959326,essv6450209,essv5939453,essv6435646,essv5965280,essv6513074,essv5806292,essv6181341,essv5923966,essv6404248,essv5738072,essv6191601,essv6086199,essv5920966,essv5899920,essv5707419,essv5951084,essv5965335,essv5954013,essv6028335,essv5951132,essv5831383,essv5965350,essv5885037,essv5745074,essv5812650,essv5672669,essv5985570,essv5766335,essv5762497,essv6035940,essv5803216,essv5396313,essv5676860,essv5698039,essv5702197,essv5794862,essv5401002,essv5403407,essv5404027,essv5773997,essv5413690,essv5414131,essv5415672,essv5416971,essv5418392,essv5851382,essv5692049,essv5855205,essv5855505,essv5858092,essv6069039,essv5439542,essv5441861,essv5442733,essv5866453,essv5690141,essv5451411,essv5451520,essv5453253,essv5679637,essv5456023,essv5456443,essv5868543,essv5457645,essv5458146,essv5871753,essv5463872,essv5870848,essv5471316,essv5476828,essv5480416,essv5972124,essv5481540,essv5482099,essv5482830,essv5484338,essv5484376,essv5891209,essv5488378,essv5922774,essv5489541,essv5492724,essv5493577,essv5497478,essv5501254,essv5807425,essv6078561,essv6053094,essv5974677,essv5507419,essv5994443 M 1151 0 345 ATAD3A HG00114,HG00187,HG00239,HG00250,HG00259,HG00268,HG00281,HG00313,HG00318,HG00323,HG00329,HG00346,HG00353,HG00361,HG00375,HG00418,HG00419,HG00422,HG00437,HG00448,HG00472,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00537,HG00542,HG00543,HG00556,HG00560,HG00577,HG00578,HG00581,HG00584,HG00589,HG00590,HG00595,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00625,HG00628,HG00629,HG00635,HG00650,HG00653,HG00656,HG00657,HG00671,HG00672,HG00684,HG00689,HG00690,HG00698,HG00701,HG00702,HG00705,HG00707,HG00708,HG00740,HG01055,HG01060,HG01066,HG01067,HG01069,HG01073,HG01075,HG01079,HG01082,HG01102,HG01108,HG01125,HG01140,HG01170,HG01171,HG01342,HG01378,HG01462,HG01488,HG01492,NA07051,NA12716,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18534,NA18536,NA18538,NA18542,NA18545,NA18548,NA18549,NA18550,NA18555,NA18559,NA18560,NA18561,NA18562,NA18563,NA18570,NA18571,NA18573,NA18576,NA18577,NA18592,NA18595,NA18599,NA18606,NA18608,NA18610,NA18612,NA18615,NA18616,NA18623,NA18632,NA18633,NA18636,NA18638,NA18853,NA18856,NA18858,NA18861,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18907,NA18908,NA18909,NA18912,NA18916,NA18917,NA18923,NA18924,NA18934,NA18940,NA18941,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18950,NA18951,NA18952,NA18953,NA18956,NA18959,NA18961,NA18963,NA18964,NA18965,NA18968,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA18982,NA18983,NA18984,NA18988,NA18989,NA18999,NA19000,NA19002,NA19003,NA19005,NA19009,NA19010,NA19054,NA19057,NA19058,NA19060,NA19062,NA19064,NA19065,NA19066,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19085,NA19087,NA19088,NA19093,NA19098,NA19099,NA19102,NA19108,NA19114,NA19116,NA19119,NA19129,NA19130,NA19131,NA19137,NA19138,NA19144,NA19147,NA19153,NA19160,NA19171,NA19172,NA19189,NA19190,NA19197,NA19198,NA19200,NA19204,NA19207,NA19209,NA19213,NA19223,NA19225,NA19235,NA19236,NA19238,NA19239,NA19247,NA19257,NA19311,NA19312,NA19313,NA19328,NA19332,NA19346,NA19350,NA19355,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19399,NA19401,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19437,NA19438,NA19440,NA19443,NA19445,NA19448,NA19449,NA19451,NA19452,NA19455,NA19457,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19625,NA19663,NA19676,NA19682,NA19700,NA19701,NA19704,NA19711,NA19712,NA19720,NA19818,NA19819,NA19901,NA19916,NA19920,NA19921,NA20127,NA20276,NA20289,NA20294,NA20299,NA20341,NA20348,NA20815 esv1301718 1 1479107 1479107 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821253 S 2 1 0 SSU72 HuRef esv2747918 1 1489387 1489779 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 SSU72 SSM022,SSM039 esv2748029 1 1489554 1489672 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 SSU72 SSM039 esv2675022 1 1495577 1495857 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5557225 S 1151 0 1 SSU72 NA18973 esv1010850 1 1501009 1501009 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 1510801 1644908 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 esv2748140 1 1519698 1520136 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM058 esv2677356 1 1522874 1524670 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5993482,essv6564666,essv6471016,essv6444599,essv6133147,essv5934228 M 1151 0 6 "" NA18871,NA19338,NA19382,NA19428,NA19457,NA19834 nsv871940 1 1526270 1573861 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 1526270 1597020 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871681,nsv870887 M 6533 0 3 CDK11B,LOC643988,MIB2,MMP23A,MMP23B,SLC35E2B SP54043,SP54672,SP54988 esv2748252 1 1530334 1530821 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM022,SSM036 esv2748363 1 1531397 1531530 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM021 esv2748474 1 1540689 1541314 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM027,SSM065 esv998174 1 1540850 1541970 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 1540930 1541970 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15071 S 451 0 3 "" NA12006,NA12878,NA18916 esv2664117 1 1540947 1541600 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6453826,essv5517798,essv6316405,essv5526959,essv6574638,essv5527257,essv6532687,essv5530409,essv6488100,essv5826421,essv6407996,essv5565288,essv5792790,essv6285256,essv5979406,essv5717982,essv5842142,essv5998151,essv6255187,essv6205041,essv5966263,essv5732359,essv5622631,essv5624349,essv6215815,essv5661906,essv6301888,essv6301960,essv5918885,essv6261630,essv5923859,essv6205705,essv5828149,essv6222802,essv5931089,essv5766633,essv5671411,essv6139546,essv5401529,essv5409593,essv5415315,essv6246700,essv5691331,essv5449664,essv5732358,essv5451145,essv5464342,essv5872095,essv5498105,essv6200524,essv6084310,essv5984908,essv6282969 M 1151 0 53 "" HG00100,HG00118,HG00131,HG00160,HG00187,HG00232,HG00251,HG00268,HG00269,HG00310,HG00312,HG00320,HG00329,HG00344,HG00372,HG00436,HG00613,HG00640,HG00734,HG00737,HG01069,HG01070,HG01073,HG01095,HG01101,HG01107,HG01125,HG01133,HG01365,HG01390,HG01441,HG01515,HG01521,NA11829,NA11830,NA11930,NA11933,NA12043,NA12347,NA12748,NA18519,NA18593,NA18637,NA18987,NA19434,NA19443,NA20340,NA20344,NA20516,NA20530,NA20539,NA20769,NA20800 nsv822031 1 1552632 1553336 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434858 S 31 0 1 MIB2 NA18942 esv2661270 1 1560745 1571392 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6312198,essv5928230,essv6211219,essv6113138,essv6428230,essv6099313,essv6507928,essv5530709,essv6488862,essv5539470,essv6412490,essv5984077,essv6485645,essv6021583,essv6414757,essv5789412,essv6489635,essv5839359,essv6315048,essv5573107,essv6505176,essv5909524,essv6261109,essv5665738,essv6263804,essv6010091,essv6334615,essv6184775,essv6475633,essv5593315,essv6217076,essv5597414,essv6260213,essv5603865,essv6249390,essv5605080,essv6328148,essv5609560,essv6335638,essv5760634,essv6363404,essv5613721,essv6342848,essv5619505,essv6569672,essv5625476,essv6548334,essv5824569,essv6571513,essv5628348,essv6468817,essv5639379,essv5643096,essv5653363,essv5653921,essv5786512,essv5954824,essv5920723,essv5712261,essv5975210,essv5738802,essv5845328,essv5949761,essv6126898,essv5791495,essv6130761,essv5937538,essv5714079,essv6141404,essv6071888,essv6036632,essv5395845,essv5413048,essv5850341,essv5422893,essv5426813,essv5858849,essv5858500,essv6059373,essv5468288,essv6182156,essv6126633,essv5475531,essv5485712,essv6022491,essv5815876 M 1151 0 86 CDK11B,MIB2,MMP23A,MMP23B HG00403,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00560,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00593,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00628,HG00629,HG00634,HG00635,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708 esv2748585 1 1562628 1563125 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 MIB2 SSM013,SSM028,SSM036,SSM043,SSM068,SSM070 esv2659399 1 1564645 1568392 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6483495,essv5552407,essv6445395,essv6105270,essv6489895,essv5555203,essv6468550,essv5555449,essv6335420,essv5556717,essv6216510,essv5788822,essv6363277,essv5825844,essv6540194,essv5563905,essv6543940,essv5975899,essv6182143,essv5792798,essv6498815,essv5564875,essv6316185,essv5730259,essv6334883,essv6043598,essv6584669,essv5799184,essv6176711,essv5751221,essv6271528,essv5576454,essv6373554,essv6062074,essv6175240,essv6057050,essv6171576,essv5967186,essv6547669,essv5750344,essv6416354,essv6052102,essv6527817,essv5597251,essv6344659,essv5844422,essv6531938,essv5847408,essv6214922,essv5603576,essv6130371,essv6077960,essv6210581,essv5607117,essv6498962,essv6057704,essv6403318,essv5608365,essv6325181,essv6019147,essv6185128,essv5838204,essv6261648,essv5917107,essv6365130,essv5971515,essv6299341,essv5789042,essv6583165,essv5814571,essv6506220,essv5640105,essv6392787,essv5910205,essv6445131,essv6008653,essv6421253,essv5645061,essv6594060,essv5659326,essv6594591,essv5938443,essv6451693,essv6068528,essv6210050,essv5947235,essv6398734,essv5909662,essv6256437,essv5676911,essv6130105,essv5679080,essv6162221,essv5992909,essv6198417,essv5777807,essv5922663,essv5932031,essv6122711,essv5903313,essv5906768,essv5973783,essv5970937,essv6051974,essv5764969,essv5840257,essv6014074,essv5792913,essv5792291,essv5412961,essv5430682,essv5437332,essv5438654,essv5447705,essv5447867,essv5456241,essv5744271,essv5770643,essv5475895,essv5966500,essv5480951,essv5484770,essv5845711,essv5501015,essv5502383,essv5504308,essv5975812,essv5505835,essv5994453,essv5826361 M 1151 0 130 MIB2,MMP23A,MMP23B HG00106,HG00108,HG00111,HG00114,HG00116,HG00117,HG00118,HG00119,HG00120,HG00122,HG00123,HG00124,HG00125,HG00126,HG00131,HG00136,HG00137,HG00138,HG00139,HG00140,HG00146,HG00148,HG00149,HG00150,HG00152,HG00154,HG00155,HG00156,HG00157,HG00158,HG00159,HG00160,HG00171,HG00174,HG00176,HG00177,HG00178,HG00180,HG00181,HG00182,HG00183,HG00185,HG00186,HG00187,HG00189,HG00190,HG00231,HG00232,HG00233,HG00236,HG00237,HG00239,HG00242,HG00243,HG00244,HG00245,HG00246,HG00247,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00260,HG00261,HG00262,HG00263,HG00264,HG00265,HG00266,HG00267,HG00268,HG00269,HG00270,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00309,HG00310,HG00312,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00323,HG00324,HG00325,HG00326,HG00327,HG00329,HG00330,HG00331,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00345,HG00346,HG00353,HG00357,HG00361,HG00366,HG00367,HG00368,HG00372,HG00375,HG00377,HG01334 dgv47n71 1 1567471 1644908 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871496,nsv871301 M 6533 0 2 CDK11A,CDK11B,MMP23A,MMP23B,SLC35E2B SP52946,SP57045 nsv871583 1 1567471 1680219 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 1567881 1683706 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17198 S 451 1 0 CDK11A,CDK11B,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B NA12828 esv2748696 1 1572910 1660645 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 15 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B SSM001,SSM004,SSM008,SSM019,SSM020,SSM029,SSM043,SSM056,SSM057,SSM058,SSM059,SSM069,SSM076,SSM089,SSM097 dgv48n71 1 1573861 1625787 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870539,nsv871202 M 6533 3 0 CDK11B,SLC35E2B SP50521,SP54604,SP57078 nsv871676 1 1573861 1627987 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 1573861 1636637 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 1573861 1645366 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 dgv2e199 1 1583664 1653329 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2659357,esv2670087 M 1151 0 3 CDK11A,CDK11B,MMP23A,SLC35E2B HG01354,NA12400,NA18982 esv1336011 1 1584546 1584546 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160103 S 2 1 0 CDK11B HuRef dgv3n67 1 1585374 1667157 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822253,nsv822142,nsv822364 M 31 3 0 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B NA18542,NA18566,NA18582 dgv49n71 1 1595198 1645366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870658,nsv870974 M 6533 0 2 CDK11A,CDK11B,MMP23A,SLC35E2B SP50098,SP51353 dgv50n71 1 1597020 1644908 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870717,nsv871135 M 6533 2 0 CDK11A,CDK11B,MMP23A,SLC35E2B SP55558,SP55864 nsv871030 1 1597020 1653672 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 esv2677252 1 1598413 1598580 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6528908,essv6245168,essv6094569,essv5669363,essv6249825,essv5517074,essv6082461,essv5517949,essv5517953,essv5519389,essv6228690,essv5521618,essv6466279,essv6439886,essv5958664,essv5524858,essv5525175,essv6072716,essv6360176,essv5526789,essv6303979,essv5528195,essv5530827,essv5532300,essv6101026,essv6548485,essv6119852,essv5824248,essv5539922,essv5540251,essv6518579,essv6070975,essv6468856,essv6477385,essv6475988,essv5952055,essv5724902,essv6227801,essv5778790,essv6457687,essv6131270,essv5550248,essv6245122,essv5551605,essv5554245,essv6076421,essv6142179,essv6231956,essv5555326,essv6377898,essv5558810,essv6388925,essv6455345,essv5560038,essv5560566,essv6127826,essv5728695,essv5829153,essv6280940,essv5677697,essv6579236,essv6461434,essv5570830,essv5570846,essv5572281,essv6561401,essv5926739,essv6085025,essv5576928,essv5577638,essv5813169,essv6280162,essv5580002,essv6421976,essv5743890,essv6425099,essv6148996,essv5585639,essv5586488,essv5755734,essv6154489,essv5725166,essv5587767,essv6377747,essv5999698,essv6121292,essv6432484,essv5875323,essv5971409,essv6507581,essv5838836,essv5592079,essv5808589,essv5796167,essv6163516,essv6523892,essv5594143,essv6255171,essv5595889,essv6579272,essv6511413,essv6374888,essv5597038,essv5945642,essv5598186,essv5598338,essv6463171,essv6045526,essv5922942,essv5798784,essv6196751,essv6219021,essv6201245,essv5783705,essv5971449,essv6126272,essv5669268,essv6298538,essv6380279,essv5607350,essv6391091,essv5609013,essv5918120,essv5674970,essv6385494,essv6009097,essv5611680,essv5611984,essv5974237,essv5612605,essv6264563,essv6582422,essv6348733,essv6127498,essv5841126,essv6533658,essv6357595,essv5621469,essv6351801,essv6517435,essv5624676,essv5625120,essv6275018,essv6189725,essv5627193,essv5677015,essv5629615,essv6469104,essv5726476,essv5630121,essv6481848,essv5990978,essv5632389,essv6089090,essv5979575,essv6092574,essv5636269,essv5637380,essv6454923,essv5639604,essv5817169,essv6096703,essv5876341,essv5641442,essv6253580,essv5752383,essv5753638,essv6354946,essv5918816,essv5780450,essv5909153,essv5799562,essv6080540,essv6063237,essv6480235,essv6162859,essv5787293,essv5741004,essv6003771,essv5652332,essv5789544,essv6407375,essv6352849,essv6121546,essv5655572,essv6534451,essv5964151,essv5965909,essv5824439,essv6143736,essv5659577,essv5660437,essv6112644,essv6524424,essv6338309,essv6224571,essv5663765,essv6259259,essv6369913,essv6059269,essv6583777,essv5974341,essv6019252,essv6329825,essv5983653,essv6160111,essv6024126,essv6028094,essv5949132,essv6127630,essv6505025,essv6353719,essv6259863,essv6359965,essv6441883,essv6067300,essv6171148,essv5955412,essv6253254,essv5816063,essv6277620,essv5814999,essv6308867,essv5824870,essv5713226,essv5795485,essv5818662,essv6306839,essv5882292,essv5998608,essv5995956,essv6534746,essv5890984,essv6393332,essv5706799,essv6518958,essv5796075,essv6120255,essv6468785,essv5931039,essv5730167,essv5714263,essv6426837,essv6031567,essv6144633,essv6573562,essv5670715,essv6235955,essv6163450,essv5998842,essv6210597,essv6010868,essv5806527,essv5977523,essv5999000,essv6311986,essv6583639,essv6049037,essv6079747,essv5671807,essv5895978,essv5664321,essv6055625,essv6547938,essv5799767,essv5881611,essv5913493,essv5842247,essv6587828,essv6294300,essv6029517,essv5758590,essv6326214,essv5983326,essv6304603,essv6000476,essv5967632,essv5727829,essv6033098,essv6162325,essv6579480,essv5794898,essv6089120,essv6547015,essv6037174,essv6040088,essv6144567,essv5803001,essv6520103,essv6237717,essv6402388,essv6205800,essv5754690,essv5396149,essv5396411,essv5796712,essv5397563,essv5703175,essv5701510,essv6064067,essv5401685,essv6582034,essv5778641,essv5800608,essv5406360,essv6488545,essv5769689,essv5779054,essv6195379,essv6110359,essv6219210,essv6363966,essv5410628,essv6513512,essv5411981,essv5827810,essv5785569,essv6384137,essv6560113,essv5414259,essv5414933,essv5415954,essv6378933,essv5416958,essv6300192,essv5852832,essv6044604,essv5729317,essv6145920,essv5709883,essv6576524,essv5423424,essv6173906,essv6506618,essv5850184,essv5742636,essv6443823,essv6221827,essv5719551,essv6167559,essv5848961,essv5855555,essv6531138,essv5711296,essv6551932,essv6063495,essv5857413,essv5715661,essv5432871,essv6401653,essv6100264,essv5435077,essv5856373,essv6452841,essv5861386,essv6247874,essv5443214,essv6254951,essv5443804,essv6063509,essv6256174,essv5447734,essv5448062,essv5448907,essv5690915,essv5865553,essv6210325,essv5452041,essv5453799,essv5454282,essv5751080,essv5681930,essv5686758,essv6283756,essv5455494,essv6488614,essv6325084,essv6492092,essv5457314,essv6530838,essv6523303,essv5459712,essv6183688,essv6059393,essv5869212,essv6386927,essv6134637,essv6399211,essv6476219,essv5465043,essv5465085,essv5873431,essv5680585,essv5465702,essv5466018,essv6241989,essv5913600,essv5471351,essv5471357,essv5472324,essv5472448,essv6484789,essv6207868,essv6078545,essv6577219,essv6111969,essv6458089,essv5480228,essv5685989,essv6475010,essv5737014,essv5682903,essv5680170,essv6503940,essv5994378,essv6592928,essv6486017,essv6483119,essv5922773,essv5490309,essv6057941,essv5719674,essv5902254,essv6466973,essv5491948,essv6496619,essv5732216,essv6327136,essv5495344,essv6097410,essv5503479,essv6544194,essv5906954,essv5675001,essv5505495,essv5505868,essv5507268,essv6506144,essv6212542,essv5509514,essv6280590,essv5509573,essv5510878,essv5511278,essv6174363,essv5512851,essv5908627,essv6362748 M 1151 0 448 CDK11B,SLC35E2B HG00096,HG00098,HG00100,HG00103,HG00106,HG00108,HG00111,HG00112,HG00114,HG00115,HG00116,HG00117,HG00118,HG00119,HG00120,HG00123,HG00124,HG00125,HG00126,HG00127,HG00131,HG00133,HG00136,HG00137,HG00138,HG00139,HG00140,HG00141,HG00142,HG00143,HG00144,HG00146,HG00148,HG00149,HG00150,HG00151,HG00152,HG00154,HG00155,HG00156,HG00157,HG00158,HG00159,HG00160,HG00171,HG00173,HG00174,HG00176,HG00177,HG00178,HG00179,HG00180,HG00181,HG00182,HG00185,HG00186,HG00187,HG00188,HG00189,HG00190,HG00232,HG00233,HG00236,HG00237,HG00239,HG00242,HG00243,HG00244,HG00245,HG00246,HG00247,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00260,HG00261,HG00262,HG00263,HG00264,HG00265,HG00266,HG00267,HG00268,HG00269,HG00270,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00306,HG00308,HG00309,HG00310,HG00312,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00329,HG00330,HG00331,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00345,HG00346,HG00353,HG00357,HG00361,HG00366,HG00367,HG00368,HG00369,HG00372,HG00373,HG00375,HG00377,HG00418,HG00419,HG00422,HG00428,HG00436,HG00437,HG00442,HG00443,HG00449,HG00463,HG00472,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00531,HG00536,HG00537,HG00542,HG00543,HG00553,HG00554,HG00581,HG00583,HG00584,HG00590,HG00607,HG00608,HG00613,HG00614,HG00619,HG00620,HG00640,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00684,HG00689,HG00692,HG00693,HG00699,HG00704,HG00705,HG00707,HG00708,HG00736,HG00740,HG01052,HG01055,HG01060,HG01066,HG01067,HG01069,HG01070,HG01072,HG01073,HG01079,HG01080,HG01082,HG01095,HG01101,HG01102,HG01107,HG01108,HG01124,HG01125,HG01134,HG01136,HG01137,HG01140,HG01148,HG01170,HG01171,HG01173,HG01174,HG01187,HG01188,HG01250,HG01251,HG01253,HG01334,HG01350,HG01351,HG01353,HG01356,HG01360,HG01365,HG01366,HG01374,HG01375,HG01377,HG01383,HG01384,HG01389,HG01390,HG01455,HG01456,HG01462,HG01492,HG01515,NA07347,NA12154,NA12275,NA12342,NA12761,NA18499,NA18519,NA18520,NA18530,NA18534,NA18536,NA18542,NA18543,NA18544,NA18548,NA18549,NA18557,NA18559,NA18577,NA18582,NA18593,NA18595,NA18596,NA18597,NA18602,NA18606,NA18610,NA18613,NA18616,NA18617,NA18619,NA18622,NA18623,NA18632,NA18635,NA18636,NA18637,NA18933,NA18934,NA18963,NA18977,NA19000,NA19009,NA19072,NA19074,NA19082,NA19083,NA19084,NA19087,NA19223,NA19311,NA19312,NA19313,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19327,NA19328,NA19331,NA19332,NA19334,NA19338,NA19346,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19453,NA19455,NA19456,NA19457,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19700,NA19701,NA19703,NA19704,NA19707,NA19711,NA19712,NA19717,NA19749,NA19756,NA19759,NA19770,NA19774,NA19783,NA19818,NA19819,NA19834,NA19835,NA19900,NA19901,NA19904,NA19908,NA19909,NA19914,NA19916,NA19917,NA19920,NA19921,NA19982,NA19985,NA20126,NA20127,NA20276,NA20278,NA20281,NA20282,NA20287,NA20289,NA20291,NA20294,NA20296,NA20314,NA20317,NA20322,NA20332,NA20334,NA20336,NA20340,NA20341,NA20342,NA20344,NA20346,NA20348,NA20356,NA20506,NA20586,NA20819 esv1758309 1 1598431 1598598 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3827771 S 2 0 1 CDK11B,SLC35E2B HuRef esv6099 1 1615256 1615349 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28540 S 1 1 0 CDK11B,SLC35E2B SJK dgv51n71 1 1615561 1658945 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 1619653 1730263 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 nsv482957 1 1619653 1730263 CNV Loss Iafrate et al 2004 15286789 BAC_aCGH,FISH Spectral Genomics 2600 BAC array nssv650869 M 0 0 1 Twenty samples were obtained from normal individuals whose DNA are stored at the Coriell Cell Repository (Camden, New Jersey) with the following ethnic representation: 10 European/Caucasian, 4 Native American, 2 Chinese, 2 Indo-Pakistani, and 2 Sub-Saharan African. Twelve samples were from fixed cell pellets of cytogenetically normal individuals from the Brigham and Women's Cytogenetics Laboratory and 7 samples from cytogenetically normal individuals were obtained from the Hospital for Sick Children. CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2,SLC35E2B dgv52n71 1 1620861 1684472 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 1625787 1686040 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871220,nsv871658 M 6533 2 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 SP57443,SP80936 nsv871560 1 1627805 1722585 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 1627918 1672603 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CDK11A,CDK11B,MMP23A,SLC35E2 nsv436343 1 1629618 1684180 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466028 S 2 0 1 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B,MMP23A,NADK,SLC35E2 NA18505 nsv834091 1 1632798 1812077 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443851 S 95 0 1 CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2 nsv482168 1 1634170 1655791 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558529 S 1 1 0 CDK11A,CDK11B KB1 nsv822475 1 1635000 1680585 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439447 S 31 1 0 CDK11A,CDK11B,SLC35E2 NA18537 nsv822586 1 1635201 1650813 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438578 S 31 1 0 CDK11A,CDK11B NA18973 nsv822697 1 1635205 1667157 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422355 S 31 0 1 CDK11A,CDK11B,SLC35E2 NA18552 nsv871903 1 1636637 1683565 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 1636637 1745726 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 1646789 1688192 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B,NADK,SLC35E2 NA18940 nsv822809 1 1647869 1667157 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431056 S 31 0 1 CDK11A,CDK11B,SLC35E2 AK18 nsv509368 1 1648331 1648331 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623768 S 4 1 0 CDK11A,CDK11B NA18994 esv2748807 1 1648528 1650286 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 38 CDK11A,CDK11B SSM003,SSM013,SSM015,SSM016,SSM019,SSM022,SSM023,SSM025,SSM026,SSM027,SSM028,SSM029,SSM030,SSM031,SSM033,SSM034,SSM037,SSM039,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM065,SSM066,SSM068,SSM069,SSM070,SSM071,SSM072,SSM079,SSM080,SSM082,SSM083,SSM084,SSM086 nsv436733 1 1648626 1648695 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466139 S 2 1 0 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B NA18505 esv2748918 1 1648907 1649534 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 CDK11A,CDK11B SSM025,SSM044,SSM070,SSM071 nsv159838 1 1649026 1649076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178416 M 24 CDK11A,CDK11B esv988165 1 1649051 1649101 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 1649063 1649114 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050580 S 2 0 1 CDK11A,CDK11B HuRef nsv160496 1 1649094 1649144 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179074 M 24 CDK11A,CDK11B dgv3e201 1 1649102 1649376 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2749251,esv2749474,esv2749029 M 96 0 7 CDK11A,CDK11B SSM013,SSM016,SSM023,SSM034,SSM042,SSM045,SSM083 dgv4e201 1 1649104 1650499 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2749140,esv2749363 M 96 0 42 CDK11A,CDK11B SSM003,SSM011,SSM015,SSM016,SSM019,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM034,SSM036,SSM037,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM066,SSM068,SSM069,SSM070,SSM071,SSM072,SSM075,SSM077,SSM078,SSM079,SSM080,SSM082,SSM083,SSM084,SSM086,SSM087,SSM089,SSM090,SSM097 esv2749585 1 1649650 1650383 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 15 CDK11A,CDK11B SSM011,SSM024,SSM027,SSM031,SSM036,SSM041,SSM043,SSM046,SSM072,SSM077,SSM080,SSM082,SSM083,SSM089,SSM090 nsv160062 1 1649716 1650677 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178640 M 24 CDK11A,CDK11B esv2749696 1 1650028 1650644 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 11 CDK11A,CDK11B SSM013,SSM027,SSM029,SSM031,SSM039,SSM045,SSM075,SSM078,SSM086,SSM087,SSM093 esv6106 1 1650059 1650537 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28547 S 1 0 1 CDK11A,CDK11B SJK nsv160158 1 1650603 1650603 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178736 M 24 CDK11A,CDK11B esv2668621 1 1651159 1651941 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6551084,essv6161260,essv6574947,essv5521262,essv6567674,essv6153819,essv6509143,essv6159658,essv6591585,essv5526479,essv5533725,essv5533975,essv5538931,essv5757432,essv5545500,essv5766798,essv5556298,essv6006807,essv6172833,essv5981084,essv5824414,essv5925180,essv6368978,essv6174707,essv5740387,essv6431866,essv5609773,essv5721102,essv5875369,essv5777711,essv5786016,essv6026905,essv6382267,essv5629650,essv6481896,essv6183585,essv5640630,essv6150455,essv5829857,essv6008529,essv6214341,essv5979668,essv6502114,essv6057054,essv6020832,essv6429076,essv5957397,essv5707911,essv6119048,essv5915606,essv6478047,essv5811208,essv6211439,essv5945228,essv6136806,essv6441545,essv5996000,essv6181979,essv6423905,essv6248804,essv5400219,essv6450861,essv6333757,essv6383329,essv6305366,essv5705033,essv5414059,essv5415020,essv5416521,essv6405662,essv6491661,essv5851810,essv5427661,essv5428122,essv5857834,essv5854246,essv6165381,essv6442324,essv5858348,essv5734885,essv5445813,essv6221133,essv5447015,essv5729436,essv6288639,essv5459191,essv6208300,essv5681328,essv6441948,essv6101359,essv5679734,essv5761947,essv6412603,essv5493869,essv5497193,essv5497841,essv6236522,essv5501939,essv5842807,essv5509797,essv5511908 M 1151 0 101 CDK11A,CDK11B HG00112,HG00126,HG00133,HG00158,HG00258,HG00276,HG00326,HG00357,HG00635,HG00641,HG00704,HG00737,HG01067,HG01094,HG01101,HG01111,HG01112,HG01124,HG01133,HG01353,HG01375,HG01497,HG01521,NA06989,NA07037,NA07056,NA11892,NA11920,NA11994,NA12155,NA12341,NA12347,NA12717,NA18488,NA18507,NA18535,NA18541,NA18565,NA18567,NA18615,NA18617,NA18621,NA18868,NA18873,NA18973,NA18988,NA18989,NA19000,NA19004,NA19056,NA19057,NA19059,NA19060,NA19066,NA19068,NA19072,NA19078,NA19079,NA19083,NA19087,NA19092,NA19189,NA19235,NA19317,NA19334,NA19346,NA19350,NA19376,NA19381,NA19383,NA19384,NA19391,NA19394,NA19397,NA19403,NA19431,NA19467,NA19625,NA19652,NA19679,NA19684,NA19700,NA19704,NA19707,NA19712,NA19717,NA19725,NA19729,NA19731,NA19755,NA19776,NA19782,NA19835,NA19901,NA19917,NA19920,NA20507,NA20761,NA20768,NA20804,NA20815 esv1736683 1 1681067 1681067 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785632 S 2 1 0 "" HuRef nsv870637 1 1684472 1718435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509708 S 6533 0 1 GNB1,NADK SP54956 esv2749807 1 1685928 1686042 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 NADK SSM072 esv2749918 1 1690539 1691013 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 NADK SSM016,SSM067 dgv54n71 1 1696659 1716726 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871332,nsv871040 M 6533 0 2 GNB1,NADK SP54043,SP57469 nsv834335 1 1744910 1933405 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443962 S 95 0 1 CALML6,GNB1,KIAA1751,TMEM52 esv2619193 1 1771014 1777460 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309496 S 1 0 1 GNB1 NA18507 esv2658596 1 1772235 1773644 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5493454 S 1151 0 1 GNB1 HG00146 esv2666680 1 1773809 1775650 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5578378 S 1151 0 1 GNB1 NA18983 esv2750029 1 1791063 1795577 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 GNB1 SSM066 dgv55n71 1 1810090 2051513 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 1810090 2291680 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 1813400 1852134 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 1818129 1844046 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 1820454 1823312 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 1844046 1992748 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 1846615 1859881 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24603 S 31 1 0 Samples from several populations that are part of the HapMap project. CALML6,TMEM52 NA18502 esv2587332 1 1860515 1860964 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262341 S 1 1 0 "" NA18507 nsv512709 1 1860724 1860864 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625333 S 1 1 0 "" 1 esv2750140 1 1865944 1866164 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM016 esv2750251 1 1866135 1867036 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 68 "" SSM002,SSM004,SSM007,SSM010,SSM011,SSM013,SSM014,SSM015,SSM016,SSM017,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM028,SSM029,SSM031,SSM032,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM042,SSM043,SSM045,SSM046,SSM047,SSM055,SSM061,SSM064,SSM065,SSM066,SSM067,SSM069,SSM070,SSM072,SSM073,SSM074,SSM075,SSM076,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM091,SSM092,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM100 esv6744 1 1866297 1867082 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29185 S 1 0 1 "" SJK esv5421 1 1866304 1867172 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27862 S 1 0 1 Single Asian sample YH "" YH esv2750362 1 1869216 1869387 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 "" SSM020,SSM026,SSM029,SSM070 esv2663496 1 1879774 1880090 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6416178,essv5534277,essv6123431,essv6123824,essv6133148,essv5724864 M 1151 0 6 "" NA18505,NA18868,NA19236,NA19257,NA19469,NA19470 nsv834446 1 1892043 2087874 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444073 S 95 0 1 GABRD,KIAA1751,PRKCZ esv2381744 1 1899196 1899525 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505691 S 1 0 1 KIAA1751 NA18507 esv2713918 1 1900108 1900642 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 11 KIAA1751 SSM003,SSM018,SSM025,SSM029,SSM046,SSM052,SSM065,SSM067,SSM089,SSM092,SSM098 esv2714029 1 1900270 1900435 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 KIAA1751 SSM092 dgv5e201 1 1910269 1911292 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2714140,esv2714362 M 96 0 9 KIAA1751 SSM009,SSM021,SSM027,SSM029,SSM037,SSM065,SSM068,SSM084,SSM089 esv25575 1 1910377 1913930 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17032,esv21134,esv13192 M 451 2 20 KIAA1751 NA06985,NA07037,NA11993,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18517,NA18858,NA18861,NA18916,NA19114,NA19147,NA19190,NA19257 esv2714251 1 1910444 1910751 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 KIAA1751 SSM027,SSM029,SSM068 esv2668919 1 1911022 1911376 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6587683,essv5940360,essv6527584,essv6348591,essv5675482,essv5571234,essv5983187,essv6515669,essv5769142,essv6114367,essv5942871,essv5995024,essv5640367,essv6060675,essv5660200,essv5999401,essv5959123,essv6255706,essv5935868,essv5894414,essv5966586,essv5674802,essv5908516,essv6058936,essv6198815,essv6234188,essv6189086,essv6201401,essv5706855,essv6104627,essv6379496,essv5788407,essv6033207,essv6043891,essv5826171,essv6156802,essv5417396,essv6098453,essv5427294,essv5430434,essv5776129,essv5440413,essv6155123,essv5685603,essv6153321,essv6458298,essv5492663,essv5953733,essv6000581,essv5513674 M 1151 0 50 KIAA1751 HG00159,HG00319,HG00324,HG00534,HG01047,HG01048,HG01055,HG01079,HG01101,HG01170,HG01250,HG01378,HG01384,HG01437,HG01440,HG01488,HG01492,NA07051,NA07346,NA18486,NA18510,NA18550,NA18552,NA18566,NA18570,NA18577,NA18582,NA18619,NA18934,NA18977,NA19007,NA19313,NA19328,NA19375,NA19376,NA19379,NA19390,NA19391,NA19394,NA19452,NA19712,NA19789,NA20340,NA20341,NA20344,NA20503,NA20540,NA20761,NA20795,NA20803 esv2714473 1 1911038 1911313 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 KIAA1751 SSM070,SSM089 esv2714584 1 1911270 1911429 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 KIAA1751 SSM068,SSM069 esv2714695 1 1911530 1911859 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 30 KIAA1751 SSM002,SSM008,SSM009,SSM012,SSM019,SSM020,SSM023,SSM027,SSM028,SSM029,SSM031,SSM037,SSM038,SSM039,SSM044,SSM046,SSM056,SSM061,SSM065,SSM067,SSM070,SSM071,SSM072,SSM076,SSM084,SSM089,SSM090,SSM091,SSM092,SSM095 esv2714806 1 1912704 1913995 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 21 KIAA1751 SSM006,SSM011,SSM013,SSM021,SSM025,SSM027,SSM028,SSM041,SSM044,SSM046,SSM052,SSM065,SSM071,SSM072,SSM074,SSM077,SSM084,SSM085,SSM094,SSM097,SSM099 esv2714917 1 1912854 1913107 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 KIAA1751 SSM044,SSM071 esv2715029 1 1912914 1913376 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 13 KIAA1751 SSM006,SSM011,SSM013,SSM025,SSM027,SSM041,SSM046,SSM074,SSM077,SSM085,SSM094,SSM097,SSM099 esv994854 1 1912935 1913740 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 esv2715140 1 1913102 1913725 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 KIAA1751 SSM072,SSM084 esv1576320 1 1913325 1913325 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312046 S 2 1 0 KIAA1751 HuRef dgv57n71 1 1916587 2068906 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871003,nsv871212 M 6533 0 2 GABRD,KIAA1751,PRKCZ IS32737,IS33601 esv1718201 1 1925158 1925158 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140788 S 2 1 0 KIAA1751 HuRef esv2715251 1 1931381 1937249 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 KIAA1751 SSM012 dgv58n71 1 1946591 1991014 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871308,nsv870670 M 6533 0 2 GABRD,PRKCZ SP54725,SP54988 nsv871701 1 1949001 2155869 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 esv2715362 1 1962860 1963091 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM008 esv2715473 1 1962877 1963316 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 "" SSM024,SSM027,SSM037,SSM039,SSM067,SSM081 esv2715584 1 1967065 1967309 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM083 nsv822920 1 1988267 1990556 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436323 S 31 1 0 PRKCZ NA18542 esv2715695 1 1991680 1992196 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 19 PRKCZ SSM012,SSM018,SSM022,SSM025,SSM027,SSM032,SSM037,SSM038,SSM047,SSM052,SSM066,SSM067,SSM073,SSM074,SSM081,SSM084,SSM087,SSM088,SSM092 nsv2520 1 1994733 2021060 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1058 S 9 1 0 PRKCZ NA19240 nsv509479 1 2003750 2108437 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619762,nssv619761 M 4 1 0 PRKCZ NA10860 nsv871663 1 2006108 2073551 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 2017029 2017029 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 2017221 2017221 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3941411 S 2 1 0 PRKCZ HuRef nsv3631 1 2022744 2056952 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7778 S 9 1 0 PRKCZ NA12156 nsv470681 1 2024064 2113565 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547651 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKCZ HGDP00697 esv2668737 1 2024490 2027497 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6566834,essv5521064,essv6564858,essv6423410,essv6574210,essv5892031,essv6231552,essv5562511,essv6255118,essv5797826,essv5586775,essv5592270,essv5597900,essv6479850,essv6220938,essv5817670,essv6085392,essv5633795,essv5636927,essv6315088,essv5657047,essv6308201,essv5668953,essv5828436,essv5900192,essv5886970,essv6422341,essv5894647,essv6028858,essv6229381,essv6249120,essv5420709,essv5690079,essv6474764,essv5681468,essv5950655,essv6154406,essv6396289,essv5500049,essv6295269,essv5502714 M 1151 0 41 PRKCZ NA07051,NA07346,NA07347,NA11829,NA11831,NA11919,NA11992,NA11993,NA12004,NA12044,NA12717,NA12750,NA12751,NA12763,NA12892,NA18486,NA18504,NA18508,NA18516,NA18520,NA18522,NA18523,NA18853,NA18871,NA18953,NA18967,NA18972,NA18974,NA18976,NA18981,NA19107,NA19116,NA19138,NA19144,NA19152,NA19159,NA19172,NA19238,NA19239,NA19240,NA19676 esv27078 1 2024543 2027403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16667 S 451 0 2 PRKCZ NA18508,NA19240 nsv871399 1 2033256 2283117 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 esv2715806 1 2037641 2038585 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 21 PRKCZ SSM005,SSM019,SSM022,SSM025,SSM028,SSM030,SSM033,SSM034,SSM037,SSM038,SSM043,SSM044,SSM045,SSM065,SSM066,SSM072,SSM077,SSM081,SSM082,SSM084,SSM088 esv4759 1 2037656 2038222 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27200 S 1 0 1 Single Asian sample YH PRKCZ YH dgv1e194 1 2037749 2038273 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1927480,esv2345828 M 1 0 1 PRKCZ NA18507 esv2715917 1 2037889 2038160 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 PRKCZ SSM022,SSM034,SSM044,SSM088 nsv160060 1 2038311 2038311 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178638 M 24 PRKCZ nsv460616 1 2040936 2089526 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537157 S 1557 0 1 PRKCZ NINDS_69 esv2716028 1 2041372 2041809 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 13 PRKCZ SSM014,SSM015,SSM026,SSM027,SSM029,SSM046,SSM078,SSM084,SSM086,SSM087,SSM088,SSM089,SSM092 esv2196740 1 2041419 2041771 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845456 S 1 0 1 PRKCZ NA18507 esv2716140 1 2041549 2041652 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 PRKCZ SSM014,SSM027,SSM029,SSM086,SSM089 nsv834557 1 2049070 2242543 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 2052521 2053012 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343806 S 1 1 0 PRKCZ NA18507 esv26913 1 2052961 2055975 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15600,esv18512 M 451 7 20 PRKCZ NA06985,NA07037,NA07045,NA11931,NA12004,NA12006,NA12287,NA12489,NA12828,NA12878,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821592 1 2052961 2056045 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420402 S 1 0 1 PRKCZ NA10851 dgv6e201 1 2053174 2054313 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2716251,esv2716473 M 96 0 59 PRKCZ SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM009,SSM012,SSM013,SSM014,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM030,SSM033,SSM035,SSM037,SSM040,SSM044,SSM046,SSM047,SSM049,SSM059,SSM064,SSM065,SSM067,SSM068,SSM069,SSM070,SSM074,SSM077,SSM078,SSM080,SSM081,SSM082,SSM083,SSM086,SSM087,SSM089,SSM090,SSM091,SSM092,SSM093,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 dgv7e201 1 2053176 2055780 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2717251,esv2716806,esv2716362,esv2716584,esv2717028 M 96 0 87 PRKCZ SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM030,SSM032,SSM033,SSM034,SSM035,SSM036,SSM037,SSM039,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM047,SSM049,SSM050,SSM053,SSM055,SSM056,SSM058,SSM059,SSM061,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 esv2505453 1 2053384 2056112 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233482 S 1 0 1 PRKCZ NA18507 dgv8e201 1 2053454 2054313 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2717362,esv2716917,esv2716695,esv2717139 M 96 0 52 PRKCZ SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM009,SSM012,SSM013,SSM014,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM024,SSM026,SSM027,SSM028,SSM029,SSM030,SSM040,SSM044,SSM046,SSM047,SSM049,SSM059,SSM064,SSM065,SSM069,SSM070,SSM074,SSM077,SSM078,SSM080,SSM081,SSM082,SSM083,SSM086,SSM087,SSM089,SSM090,SSM091,SSM092,SSM093,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 esv4841 1 2053516 2055933 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27282 S 1 0 1 Single Asian sample YH PRKCZ YH esv1008133 1 2053623 2055810 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 2054545 2054653 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618162 S 2 0 1 PRKCZ HuRef esv2717473 1 2054640 2055604 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 57 PRKCZ SSM003,SSM004,SSM005,SSM007,SSM009,SSM010,SSM011,SSM012,SSM013,SSM014,SSM015,SSM018,SSM019,SSM020,SSM021,SSM023,SSM024,SSM026,SSM027,SSM030,SSM033,SSM040,SSM042,SSM044,SSM045,SSM046,SSM049,SSM050,SSM058,SSM059,SSM061,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM080,SSM081,SSM082,SSM083,SSM085,SSM086,SSM087,SSM090,SSM091,SSM095,SSM098,SSM099,SSM100 esv2717584 1 2055154 2055561 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 32 PRKCZ SSM005,SSM009,SSM010,SSM013,SSM014,SSM015,SSM016,SSM020,SSM021,SSM024,SSM026,SSM027,SSM028,SSM030,SSM033,SSM045,SSM049,SSM050,SSM059,SSM061,SSM064,SSM068,SSM069,SSM070,SSM072,SSM078,SSM081,SSM085,SSM087,SSM091,SSM099,SSM100 nsv870901 1 2058023 2096638 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 2058023 2173504 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 2070100 2176038 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871955,nsv870529 M 6533 0 2 C1orf86,PRKCZ,SKI IS33162,SP54956 esv2313378 1 2073716 2074039 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884634 S 1 0 1 PRKCZ NA18507 esv4294 1 2073731 2073962 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26735 S 1 0 1 Single Asian sample YH PRKCZ YH esv2717695 1 2073737 2074095 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 32 PRKCZ SSM003,SSM004,SSM012,SSM013,SSM017,SSM020,SSM021,SSM022,SSM023,SSM026,SSM028,SSM029,SSM032,SSM040,SSM042,SSM044,SSM045,SSM047,SSM065,SSM067,SSM068,SSM069,SSM071,SSM072,SSM073,SSM079,SSM080,SSM081,SSM083,SSM084,SSM086,SSM098 esv2717806 1 2078936 2079415 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 PRKCZ SSM023,SSM025,SSM042,SSM067,SSM071,SSM072,SSM079 esv2717917 1 2079142 2079395 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 PRKCZ SSM071,SSM079 nsv461727 1 2082489 2182470 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538084 S 1557 0 1 C1orf86,PRKCZ,SKI 1780862101_A dgv60n71 1 2096638 2180524 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871059,nsv870713 M 6533 0 3 C1orf86,PRKCZ,SKI IS33239,IS33797,IS39417 dgv61n71 1 2096638 2222583 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 2096638 2310193 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 esv2718028 1 2109725 2110158 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 PRKCZ SSM012 dgv63n71 1 2118339 2173504 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 2119833 2310193 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 2140261 2156362 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417805 S 112 0 1 "" NA18853 nsv463949 1 2140261 2195117 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539962 S 1557 0 1 SKI 1780862414_A nsv834668 1 2155766 2324377 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 2158465 2160492 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208944 S 1 0 1 SKI NA18507 esv2673961 1 2162118 2163146 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6191476 S 1151 0 1 SKI NA18910 nsv465060 1 2180524 2220649 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540916 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SKI HGDP01351 dgv64n71 1 2182470 2507415 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 2192433 2234632 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 2192433 2289321 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 esv2718139 1 2193112 2193814 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 SKI SSM021 dgv66n71 1 2195117 2236697 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871845,nsv870836,nsv870681 M 6533 0 4 SKI IS35007,IS38235,IS38293,IS38403 nsv528621 1 2199057 2211849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705251 S 2026 0 1 SKI nsv870904 1 2202774 2280661 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 2212060 2214175 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20675 S 451 4 10 SKI NA06985,NA11931,NA11993,NA12006,NA12239,NA12287,NA18508,NA18517,NA18523,NA18909,NA18916,NA19108,NA19240,NA19257 esv2718250 1 2212159 2212427 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 SKI SSM017 esv1252402 1 2212160 2212373 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979301 S 2 0 1 SKI HuRef esv1536883 1 2212641 2212728 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775323 S 2 0 1 SKI HuRef esv1025209 1 2212790 2213005 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025462 S 2 0 1 SKI HuRef dgv67n71 1 2212920 2291680 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 2213018 2213276 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061538 S 2 0 1 SKI HuRef esv1164473 1 2213301 2213387 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589181 S 2 0 1 SKI HuRef nsv870515 1 2224876 2314319 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 2234213 2266305 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426364 S 31 1 0 MORN1,SKI AK6 dgv68n71 1 2234632 2291680 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 2235731 2257727 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 2236164 2282202 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3953,nssv10842,nssv8452,nssv5660,nssv1955 M 9 5 0 LOC100129534,MORN1,SKI NA12156,NA12878,NA18555,NA18956,NA19129 nsv871930 1 2236697 2379248 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 2237528 2241980 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823253,nsv823586,nsv823142,nsv823475 M 31 4 0 SKI AK12,NA18564,NA18951,NA18969 nsv823364 1 2238295 2241002 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437213 S 31 1 0 SKI NA18949 esv2502867 1 2255698 2258249 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196708 S 1 0 1 MORN1 NA18507 nsv870616 1 2263888 2359981 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 2283117 2446880 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 2299651 2333031 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870564,nsv871012,nsv870714 M 6533 0 3 MORN1,RER1 IS34304,IS35484,MS16153 nsv871856 1 2301691 2320702 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 2301691 2551900 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 2303512 2482921 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 2306972 2390588 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871788,nsv871447 M 6533 0 2 MORN1,PEX10,RER1 IS40396,SP54956 nsv520511 1 2307481 2309082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697462 S 2026 0 1 MORN1 nsv870492 1 2315717 2350912 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 2319428 2408834 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 2319428 2852206 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 2321132 2337358 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426365 S 31 1 0 MORN1,PEX10,RER1 AK6 nsv470684 1 2326009 2847488 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 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 2327815 2379248 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 2327815 2425992 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 2332252 2333247 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353074 S 1 1 0 RER1 NA18507 dgv1n27 1 2333031 2450394 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 2333226 2333383 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625334 S 1 1 0 RER1 1 nsv823808 1 2334580 2335834 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436324 S 31 1 0 RER1 NA18542 dgv77n71 1 2335676 2446880 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871641,nsv871767 M 6533 2 0 PANK4,PEX10,PLCH2,RER1 IS30210,IS31763 dgv78n71 1 2339074 2446880 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 2353869 2395452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511305 S 6533 0 1 "" SP55021 dgv79n71 1 2353869 2500639 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 2359981 2450394 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547672 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PANK4,PLCH2 HGDP00720 dgv80n71 1 2362020 2446880 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871966,nsv870692,nsv871401 M 6533 0 3 PANK4,PLCH2 IS30197,MS11467,MS11726 esv2718362 1 2367474 2368136 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 25 "" SSM003,SSM015,SSM017,SSM018,SSM021,SSM023,SSM026,SSM027,SSM028,SSM044,SSM049,SSM050,SSM052,SSM059,SSM066,SSM067,SSM070,SSM076,SSM079,SSM081,SSM087,SSM088,SSM089,SSM095,SSM098 esv2718473 1 2367742 2367931 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 "" SSM088,SSM089,SSM098 esv2668714 1 2367783 2368009 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6583990,essv6374994,essv6510339,essv6095950,essv6533947,essv5519123,essv6544556,essv6300274,essv6572195,essv6148045,essv6529134,essv6470051,essv5523762,essv5530784,essv5901413,essv6080801,essv6052052,essv5974767,essv6503964,essv6176421,essv5561041,essv5565564,essv5940301,essv5572816,essv6137418,essv6402562,essv5583100,essv5584739,essv5589777,essv5717656,essv6269044,essv6410642,essv5593070,essv5967212,essv5672295,essv6393176,essv6255206,essv6167981,essv5602173,essv5932921,essv6489486,essv5608646,essv6404744,essv5610738,essv5930767,essv5671033,essv5614270,essv5673453,essv5624107,essv6265746,essv6369582,essv5630844,essv5631580,essv6288922,essv5632537,essv5925401,essv5810986,essv5641464,essv5642752,essv5643676,essv6436239,essv6015565,essv5646611,essv5911315,essv5648999,essv6273610,essv5899708,essv5655601,essv6500591,essv5796448,essv5890375,essv5938607,essv6124602,essv6344808,essv5678679,essv6106037,essv5831388,essv6244737,essv6417282,essv6378150,essv5400745,essv5412390,essv6150234,essv5414235,essv6499911,essv6052252,essv5423514,essv6464841,essv5425178,essv6231320,essv5427393,essv5432359,essv5437439,essv6307009,essv5439678,essv5442509,essv5863149,essv5772983,essv5448132,essv5867450,essv6135652,essv5682628,essv6334402,essv5728098,essv6412544,essv6163616,essv5461953,essv5467369,essv6072434,essv6326352,essv5685920,essv5477340,essv6319824,essv6149461,essv6310386,essv6176979,essv6367710,essv5905581,essv6136547,essv6303495,essv5740169,essv6061718,essv6378265,essv6376204,essv6420983,essv5503301,essv5899355,essv5903711,essv6164878 M 1151 0 129 "" HG00125,HG00136,HG00138,HG00139,HG00250,HG00254,HG00275,HG00276,HG00278,HG00281,HG00282,HG00309,HG00310,HG00320,HG00324,HG00325,HG00328,HG00334,HG00336,HG00337,HG00343,HG00375,HG00418,HG00419,HG00422,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00533,HG00534,HG00537,HG00543,HG00583,HG00584,HG00589,HG00590,HG00607,HG00608,HG00613,HG00614,HG00619,HG00620,HG00650,HG00651,HG00653,HG00654,HG00657,HG00663,HG00672,HG00689,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG01052,HG01060,HG01070,HG01083,HG01108,HG01170,HG01171,HG01173,HG01334,HG01350,HG01351,HG01365,HG01390,HG01441,HG01492,NA18530,NA18536,NA18542,NA18543,NA18544,NA18546,NA18548,NA18549,NA18550,NA18557,NA18558,NA18559,NA18561,NA18570,NA18577,NA18582,NA18596,NA18597,NA18599,NA18602,NA18606,NA18610,NA18611,NA18612,NA18613,NA18622,NA18632,NA18637,NA18638,NA18964,NA19371,NA19375,NA19379,NA19381,NA19384,NA19390,NA19394,NA19404,NA19428,NA19720,NA19747 nsv871359 1 2369498 2404256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507437 S 6533 0 1 "" SP54725 dgv81n71 1 2369498 2466633 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870948,nsv871068,nsv870865 M 6533 0 3 HES5,PANK4,PLCH2 IS34908,MS12202,SP54782 esv2718584 1 2371562 2372290 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 "" SSM030,SSM035,SSM041,SSM063 esv988545 1 2371950 2372019 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 dgv3e199 1 2371960 2374338 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2677055,esv2667055 M 1151 0 1 "" NA18574 esv2718695 1 2371992 2372264 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM035,SSM041 esv1513739 1 2371997 2371997 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248036 S 2 1 0 "" HuRef nsv871726 1 2373089 2551900 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 2376254 2380249 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8862,esv312 M 271 0 0 "" NA18508 nsv870655 1 2379248 3101353 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 2390213 2391302 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15167,esv12176 M 451 0 12 "" NA06985,NA11894,NA12004,NA12239,NA12287,NA18511,NA18858,NA18909,NA18916,NA19129,NA19147,NA19240 nsv871912 1 2390588 2480337 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 esv2718806 1 2390614 2391263 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 23 "" SSM001,SSM002,SSM013,SSM019,SSM026,SSM027,SSM029,SSM031,SSM032,SSM036,SSM039,SSM040,SSM041,SSM044,SSM053,SSM067,SSM068,SSM073,SSM074,SSM078,SSM089,SSM092,SSM096 esv2718917 1 2390800 2390966 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 10 "" SSM001,SSM013,SSM026,SSM029,SSM032,SSM040,SSM041,SSM074,SSM089,SSM096 esv2668467 1 2390806 2391052 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6540434,essv6409874,essv6512160,essv5519029,essv6577821,essv5519074,essv6536705,essv5804372,essv6569569,essv6014555,essv6551632,essv6090319,essv6551924,essv5934369,essv6544336,essv6281611,essv6519149,essv6055830,essv6504100,essv5726242,essv6226517,essv5538311,essv5538854,essv5546308,essv6057652,essv5547485,essv5551010,essv5551104,essv5551336,essv5555656,essv6203532,essv6394630,essv5558047,essv5563893,essv5807802,essv5575722,essv6219456,essv5581589,essv5963925,essv5948931,essv6416104,essv5598418,essv5602357,essv6365388,essv6364378,essv5809808,essv5613929,essv5613982,essv6475241,essv5844195,essv6051290,essv5984136,essv5825375,essv6096498,essv5631318,essv5640198,essv6123846,essv6057284,essv5821058,essv5987314,essv6494753,essv6318976,essv5835922,essv5738711,essv5990143,essv5994541,essv6238640,essv6284888,essv5995244,essv6015336,essv5920836,essv5710726,essv6029442,essv6185226,essv5914838,essv5735619,essv5879513,essv5914379,essv6107284,essv6072856,essv6068947,essv5753449,essv5780323,essv5897044,essv6221066,essv5964575,essv6406748,essv6081812,essv6363664,essv6459378,essv5815536,essv6425849,essv6296062,essv6090639,essv5403060,essv5843562,essv6247847,essv5775590,essv5755072,essv5415337,essv5744948,essv6105477,essv5689636,essv5425402,essv5859906,essv5438814,essv5447025,essv5865427,essv5448530,essv6409825,essv5688839,essv6325270,essv5456432,essv5471300,essv5684887,essv6224671,essv6180823,essv5475603,essv5476099,essv5684170,essv5478507,essv5929017,essv5923266,essv5492017,essv5887270,essv6141211,essv6486007,essv5501976,essv5505273,essv5505829,essv5506006,essv5875862 M 1151 0 132 "" HG00124,HG00125,HG00136,HG00138,HG00139,HG00159,HG00185,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00258,HG00260,HG00261,HG00268,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00310,HG00313,HG00315,HG00318,HG00320,HG00321,HG00323,HG00327,HG00334,HG00335,HG00337,HG00338,HG00339,HG00342,HG00345,HG00346,HG00375,HG00418,HG00419,HG00421,HG00422,HG00427,HG00437,HG00448,HG00476,HG00478,HG00479,HG00500,HG00501,HG00513,HG00524,HG00536,HG00537,HG00543,HG00557,HG00581,HG00584,HG00589,HG00613,HG00650,HG00651,HG00654,HG00662,HG00663,HG00684,HG00690,HG00692,HG00693,HG00699,HG00704,HG00740,HG01048,HG01052,HG01055,HG01060,HG01061,HG01066,HG01069,HG01070,HG01080,HG01082,HG01083,HG01101,HG01102,HG01107,HG01170,HG01171,HG01204,HG01334,HG01350,HG01353,HG01357,HG01374,HG01375,HG01390,HG01440,HG01441,HG01462,HG01488,NA12003,NA18532,NA18542,NA18543,NA18549,NA18557,NA18566,NA18570,NA18572,NA18596,NA18597,NA18599,NA18610,NA18613,NA18621,NA18623,NA18624,NA18633,NA18636,NA18964,NA19257,NA19372,NA19374,NA19379,NA19770,NA20543 esv2719028 1 2390826 2391109 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 10 "" SSM002,SSM019,SSM026,SSM029,SSM036,SSM039,SSM044,SSM053,SSM078,SSM089 esv2719139 1 2391080 2391222 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM039 esv2719250 1 2393324 2393868 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 "" SSM021,SSM043,SSM046 esv989190 1 2393688 2393688 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 2393777 2393777 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3609131 S 2 1 0 "" HuRef esv2719361 1 2399697 2400278 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 11 "" SSM017,SSM018,SSM021,SSM027,SSM029,SSM065,SSM066,SSM069,SSM070,SSM072,SSM077 nsv871255 1 2409276 2485433 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 IS36876 nsv823920 1 2413744 2483841 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440793 S 31 1 0 HES5,LOC115110,PANK4,PLCH2 NA18969 esv2719473 1 2415386 2415556 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 PLCH2 SSM018,SSM024,SSM031,SSM082,SSM086 nsv818222 1 2424122 2485433 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417806,nssv1417514 M 112 0 2 HES5,LOC115110,PANK4,PLCH2 NA18853,NA18968 esv2719584 1 2432114 2432491 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 PLCH2 SSM028,SSM086 nsv7171 1 2443998 2538071 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 2449192 2482921 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 2452239 2483097 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426366 S 31 1 0 HES5,LOC115110,PANK4 AK6 dgv83n71 1 2452569 2466633 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871366,nsv871072 M 6533 0 5 HES5,PANK4 SP54345,SP54591,SP54657,SP54750,SP55019 esv2583485 1 2453635 2454448 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387623 S 1 1 0 PANK4 NA18507 esv1165961 1 2454255 2454255 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796592 S 2 1 0 PANK4 HuRef dgv84n71 1 2455500 2466633 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 2456590 2485433 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv1 S 1 0 0 HES5,LOC115110,PANK4 NA15510 nsv436691 1 2485434 2497301 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466250 S 2 0 0 Samples from several populations that are part of the HapMap project. LOC100133445,TNFRSF14 NA18505 dgv1n47 1 2485434 2499127 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499113,nsv499569,nsv499637 M 9 0 0 LOC100133445,TNFRSF14 dgv1n50 1 2485434 2499127 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513632,nsv513633 M 1 0 0 LOC100133445,TNFRSF14 1 esv1699286 1 2485434 2499127 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4270452 S 2 0 0 LOC100133445,TNFRSF14 HuRef esv2471749 1 2485434 2499127 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165573 S 1 0 0 LOC100133445,TNFRSF14 NA18507 nsv824475 1 2493012 2493455 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431952 S 31 0 1 TNFRSF14 NA18972 nsv824364 1 2493012 2494114 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434859 S 31 0 1 TNFRSF14 NA18942 dgv5n67 1 2496335 2497984 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824253,nsv824142 M 31 0 2 "" AK20,NA18972 nsv829648 1 2499128 2572340 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450739 S 95 0 1 C1orf93,MMEL1 nsv871833 1 2500639 2584538 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597588 S 6533 0 1 C1orf93,MMEL1,TTC34 IS41317 nsv870979 1 2513216 2544640 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 2513216 2779043 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 esv2719695 1 2523566 2524274 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 22 MMEL1 SSM004,SSM011,SSM012,SSM015,SSM019,SSM022,SSM026,SSM028,SSM029,SSM030,SSM035,SSM044,SSM046,SSM049,SSM058,SSM064,SSM075,SSM083,SSM086,SSM088,SSM098,SSM100 esv2719806 1 2523616 2524042 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 MMEL1 SSM004,SSM011,SSM064,SSM086 esv2719917 1 2523786 2524223 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 17 MMEL1 SSM004,SSM015,SSM019,SSM022,SSM026,SSM028,SSM029,SSM030,SSM044,SSM046,SSM049,SSM058,SSM075,SSM083,SSM088,SSM098,SSM100 nsv428399 1 2553978 3152490 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452575 S 62 1 0 ACTRT2,FLJ42875,MIR4251,MMEL1,PRDM16,TTC34 HGDP00450 esv21805 1 2565924 2634182 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12016,esv12744,esv16589,esv12824,esv21190,esv18116 M 451 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 2566002 2566482 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626021 S 1 0 1 "" 1 esv1931226 1 2566029 2566723 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612274 S 1 0 1 "" NA18507 esv2720028 1 2566171 2566572 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 11 "" SSM017,SSM020,SSM032,SSM035,SSM050,SSM052,SSM070,SSM076,SSM088,SSM091,SSM093 esv2669821 1 2566195 2566623 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6568242,essv5759687,essv6594080,essv5517716,essv6588197,essv5522908,essv6169480,essv6521997,essv6376974,essv5897265,essv5539969,essv6078969,essv5546957,essv5552992,essv6041178,essv6443064,essv6328384,essv5558599,essv5938131,essv6204263,essv6289413,essv5568489,essv6144433,essv5838103,essv6169758,essv5972540,essv5946004,essv5666396,essv6088009,essv6109200,essv6489999,essv5601616,essv5752773,essv6393770,essv6519108,essv5607775,essv5608652,essv6081713,essv6483210,essv6431904,essv6488723,essv6083878,essv6075008,essv5639073,essv6068516,essv6160881,essv5655408,essv5659713,essv6059728,essv6394674,essv5816058,essv5721497,essv6115352,essv6132494,essv6368487,essv5796693,essv6016573,essv6529647,essv5997909,essv5711594,essv6237014,essv5884891,essv5980680,essv5900200,essv6517570,essv6526087,essv6339798,essv6090582,essv5790573,essv6351205,essv5814263,essv6025747,essv5837505,essv5936146,essv6217295,essv6162007,essv6273379,essv6363658,essv6039374,essv6034164,essv5788468,essv5702203,essv6230234,essv5411742,essv5415958,essv6331001,essv6558785,essv5741752,essv5433007,essv5690458,essv6090000,essv5774401,essv5861950,essv5693082,essv6541573,essv5713670,essv5679435,essv5716031,essv5462610,essv5463132,essv6370619,essv5771945,essv5471160,essv6520633,essv5481367,essv6451395,essv5483427,essv5484855,essv6000041,essv5501129,essv5842808,essv5502647,essv6363573 M 1151 0 113 "" HG00100,HG00103,HG00108,HG00111,HG00112,HG00123,HG00133,HG00136,HG00137,HG00152,HG00174,HG00180,HG00232,HG00236,HG00237,HG00243,HG00250,HG00275,HG00284,HG00285,HG00313,HG00328,HG00331,HG00336,HG00342,HG00346,HG00369,HG00478,HG00512,HG00543,HG00610,HG00613,HG00654,HG00684,HG00692,HG00693,HG00704,HG00734,HG01047,HG01055,HG01066,HG01069,HG01082,HG01124,HG01134,HG01136,HG01140,HG01334,HG01354,HG01356,HG01359,HG01441,HG01461,HG01521,NA07051,NA11930,NA12154,NA12282,NA12717,NA12748,NA12778,NA12829,NA12830,NA18489,NA18520,NA18542,NA18550,NA18566,NA18579,NA18612,NA18616,NA19093,NA19102,NA19130,NA19213,NA19313,NA19315,NA19317,NA19331,NA19372,NA19377,NA19394,NA19399,NA19403,NA19438,NA19439,NA19443,NA19455,NA19463,NA19468,NA19625,NA19663,NA19675,NA19676,NA19678,NA19685,NA19703,NA19818,NA19920,NA20299,NA20332,NA20341,NA20356,NA20516,NA20525,NA20530,NA20582,NA20757,NA20768,NA20778,NA20795,NA20818,NA20819 esv1624207 1 2566517 2566517 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164733 S 2 1 0 "" HuRef esv994553 1 2572467 2584079 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 2580468 2583441 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438579 S 31 1 0 TTC34 NA18973 nsv161117 1 2583029 2583595 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179695 M 24 TTC34 dgv9e201 1 2583492 2628877 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2720139,esv2720806,esv2720584,esv2720361,esv2721361,esv2721028 M 96 0 84 TTC34 SSM001,SSM002,SSM003,SSM004,SSM005,SSM007,SSM009,SSM010,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM047,SSM049,SSM053,SSM055,SSM056,SSM059,SSM062,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM076,SSM077,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM089,SSM091,SSM092,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 dgv1n6 1 2583559 2591089 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv160392,nsv160178 M 24 TTC34 esv1381913 1 2583570 2583570 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214883 S 2 1 0 TTC34 HuRef nsv820462 1 2583600 2634182 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420513 S 1 1 0 TTC34 NA10851 nsv160953 1 2583700 2584300 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179531 M 24 TTC34 nsv160689 1 2583932 2584533 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179267 M 24 TTC34 dgv10e201 1 2583940 2584733 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2720472,esv2720250,esv2720695 M 96 0 8 TTC34 SSM011,SSM014,SSM034,SSM044,SSM045,SSM079,SSM089,SSM096 esv2720917 1 2584100 2589085 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 19 TTC34 SSM011,SSM013,SSM017,SSM020,SSM027,SSM031,SSM034,SSM039,SSM045,SSM047,SSM067,SSM069,SSM070,SSM082,SSM083,SSM084,SSM085,SSM086,SSM096 esv2721139 1 2584110 2587272 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 18 TTC34 SSM011,SSM013,SSM017,SSM020,SSM027,SSM031,SSM034,SSM039,SSM045,SSM047,SSM067,SSM069,SSM070,SSM082,SSM083,SSM084,SSM086,SSM096 esv999533 1 2584227 2585069 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 2584538 2919150 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871729,nsv870893 M 6533 0 3 TTC34 IS34304,MS10769,MS16315 nsv159794 1 2584646 2586332 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178372 M 24 TTC34 nsv159997 1 2584875 2585035 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178575 M 24 TTC34 nsv160053 1 2585307 2585307 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178631 M 24 TTC34 dgv4e199 1 2585445 2587423 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2668155,esv2657692 M 1151 0 2 TTC34 NA18616,NA19223 esv8624 1 2586076 2629186 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31065 S 1 0 1 TTC34 SJK dgv5e199 1 2586186 2616318 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2662334,esv2659426,esv2674419 M 1151 0 8 TTC34 HG00635,HG01516,NA12399,NA18943,NA18982,NA19085,NA19756,NA19780 esv2721250 1 2586513 2586963 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 15 TTC34 SSM011,SSM013,SSM017,SSM020,SSM027,SSM031,SSM039,SSM067,SSM069,SSM070,SSM082,SSM083,SSM084,SSM086,SSM096 esv1995006 1 2587683 2609385 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845344 S 1 0 1 TTC34 NA18507 esv999575 1 2587780 2620255 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 2589270 2614433 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 2593247 2593247 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785302 S 2 1 0 TTC34 HuRef esv1780740 1 2593705 2593786 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117042 S 2 0 1 TTC34 HuRef esv1286791 1 2593876 2593956 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745617 S 2 0 1 TTC34 HuRef esv1001627 1 2593895 2594777 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 2595413 2595493 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788684 S 2 0 1 TTC34 HuRef esv1701153 1 2595518 2595757 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138724 S 2 0 1 TTC34 HuRef esv990905 1 2596753 2606586 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 2596826 2596826 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133439 S 2 1 0 TTC34 HuRef esv992616 1 2596961 2601374 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 2597548 2597548 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882975 S 2 1 0 TTC34 HuRef esv1134902 1 2598419 2598499 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644540 S 2 0 1 TTC34 HuRef esv1460747 1 2599458 2599578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860280 S 2 0 1 TTC34 HuRef esv1312498 1 2600237 2600477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349278 S 2 0 1 TTC34 HuRef esv997173 1 2601369 2601930 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 2602836 2603358 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966245 S 2 0 1 TTC34 HuRef esv2721472 1 2603375 2628704 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 48 TTC34 SSM002,SSM003,SSM004,SSM005,SSM010,SSM013,SSM015,SSM016,SSM017,SSM019,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM031,SSM033,SSM034,SSM037,SSM040,SSM043,SSM046,SSM053,SSM056,SSM059,SSM064,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM073,SSM074,SSM076,SSM079,SSM081,SSM082,SSM083,SSM084,SSM085,SSM089,SSM092,SSM095,SSM096,SSM099 esv1394797 1 2604440 2604521 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279125 S 2 0 1 TTC34 HuRef nsv160294 1 2604481 2609056 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178872 M 24 TTC34 esv1779754 1 2605181 2605181 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803937 S 2 1 0 TTC34 HuRef esv2672332 1 2609210 2626391 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5828566,essv5654815 M 1151 0 2 TTC34 HG00313,NA19380 esv993173 1 2609759 2610320 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 2610568 2616269 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177961 M 24 TTC34 esv989273 1 2611513 2614402 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 2615969 2629031 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29402 S 1 0 1 TTC34 SJK nsv159584 1 2616455 2616815 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178162 M 24 TTC34 esv2721583 1 2616536 2628875 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 54 TTC34 SSM001,SSM003,SSM010,SSM012,SSM015,SSM016,SSM017,SSM018,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM031,SSM033,SSM037,SSM040,SSM042,SSM043,SSM045,SSM046,SSM047,SSM056,SSM064,SSM065,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM075,SSM076,SSM077,SSM078,SSM079,SSM080,SSM082,SSM083,SSM084,SSM085,SSM087,SSM088,SSM089,SSM091,SSM092,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 nsv6964 1 2616765 2618184 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6711 S 9 1 0 TTC34 NA12156 nsv160877 1 2617977 2623639 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179455 M 24 TTC34 nsv7534 1 2618520 2621299 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4235 S 9 1 0 TTC34 NA12878 esv2663943 1 2618820 2626257 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6025078 S 1151 0 1 TTC34 NA18486 nsv160247 1 2620307 2622675 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178825 M 24 TTC34 nsv160029 1 2622815 2628837 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178607 M 24 TTC34 nsv160879 1 2623117 2625882 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179457 M 24 TTC34 nsv159137 1 2623263 2623383 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177715 M 24 TTC34 nsv160272 1 2623929 2633004 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178850 M 24 TTC34 nsv160341 1 2626290 2627173 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178919 M 24 TTC34 esv2721695 1 2626553 2630453 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 37 TTC34 SSM003,SSM011,SSM012,SSM013,SSM016,SSM019,SSM022,SSM023,SSM024,SSM026,SSM028,SSM031,SSM036,SSM037,SSM040,SSM041,SSM044,SSM045,SSM046,SSM067,SSM069,SSM070,SSM071,SSM073,SSM074,SSM076,SSM077,SSM079,SSM080,SSM082,SSM083,SSM089,SSM090,SSM096,SSM098,SSM099,SSM100 esv2721806 1 2627473 2628875 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 34 TTC34 SSM011,SSM012,SSM013,SSM016,SSM019,SSM022,SSM023,SSM024,SSM026,SSM028,SSM031,SSM036,SSM037,SSM040,SSM041,SSM044,SSM045,SSM046,SSM067,SSM069,SSM070,SSM071,SSM073,SSM074,SSM076,SSM077,SSM079,SSM082,SSM083,SSM089,SSM090,SSM096,SSM099,SSM100 esv2721917 1 2628186 2629986 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 TTC34 SSM003,SSM013,SSM070,SSM083 esv6481 1 2629981 2630289 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28922 S 1 0 1 TTC34 SJK esv2722028 1 2630032 2630442 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 TTC34 SSM040,SSM045,SSM046,SSM080,SSM083,SSM098,SSM100 esv1095177 1 2632561 2632561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698632 S 2 1 0 TTC34 HuRef nsv160000 1 2632791 2632990 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178578 M 24 TTC34 nsv159461 1 2633264 2634106 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178039 M 24 TTC34 esv23086 1 2684255 2694960 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10077,esv19931 M 451 12 2 TTC34 NA07037,NA12287,NA12489,NA18502,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA19099,NA19190,NA19225,NA19240 nsv821258 1 2684255 2695040 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420624 S 1 1 0 TTC34 NA10851 esv2722139 1 2688769 2689602 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 TTC34 SSM008,SSM011,SSM047,SSM086 esv2722250 1 2689011 2689368 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 TTC34 SSM011,SSM047,SSM086 esv2722361 1 2689184 2689362 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 TTC34 SSM011 esv1006680 1 2689524 2689683 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 2690111 2691077 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352306 S 2 0 1 TTC34 HuRef esv2661153 1 2693029 2697101 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6292297 S 1151 0 1 TTC34 HG00404 nsv871110 1 2700372 2797856 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 2713327 2852707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580801 S 6533 0 1 "" IS35484 nsv469835 1 2740701 2922551 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 2754512 3006131 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 2754512 3230544 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871468,nsv871921 M 6533 0 2 ACTRT2,FLJ42875,MIR4251,PRDM16 MS10311,MS17208 esv2455629 1 2765957 2766825 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201421 S 1 1 0 "" NA18507 esv1778376 1 2766029 2766029 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921204 S 2 1 0 "" HuRef esv2606115 1 2768287 2769751 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324371 S 1 0 1 "" NA18507 esv1145877 1 2768645 2768645 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076825 S 2 1 0 "" HuRef esv2722472 1 2769285 2769448 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM023 nsv455662 1 2769542 2829551 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533180 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00515 esv1008548 1 2772784 2776125 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 esv2722583 1 2775342 2776134 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 11 "" SSM012,SSM020,SSM026,SSM027,SSM029,SSM031,SSM050,SSM052,SSM065,SSM067,SSM087 nsv870507 1 2779043 2842270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530404 S 6533 0 1 "" MS10311 nsv521946 1 2787093 2789108 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694715 S 2026 0 1 "" nsv871556 1 2787093 2883858 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509714 S 6533 0 1 "" SP54956 dgv88n71 1 2789108 2859724 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870985,nsv870651,nsv871834 M 6533 0 6 "" IS33684,IS39258,MS11579,MS12262,MS13727,MS15835 esv2676249 1 2812693 2813200 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6584383 S 1151 0 1 "" NA18522 esv2722694 1 2813361 2813808 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM016,SSM098 esv2722806 1 2819163 2819606 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM033 esv2722917 1 2824371 2824505 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM037 nsv870499 1 2829551 2902128 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572107 S 6533 0 1 "" IS32888 nsv871683 1 2835692 3006131 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 esv2723028 1 2837631 2837974 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 8 "" SSM025,SSM026,SSM027,SSM028,SSM035,SSM046,SSM065,SSM082 esv2723139 1 2837722 2837891 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 "" SSM026,SSM027,SSM035,SSM046,SSM082 nsv159525 1 2837836 2837903 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178103 M 24 "" esv2723250 1 2837991 2838204 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 8 "" SSM039,SSM040,SSM044,SSM045,SSM047,SSM068,SSM071,SSM083 esv2723361 1 2861004 2861754 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 "" SSM005,SSM033,SSM065,SSM068,SSM070,SSM084,SSM092 esv2723472 1 2865955 2866910 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 19 "" SSM005,SSM008,SSM024,SSM026,SSM027,SSM029,SSM031,SSM036,SSM038,SSM056,SSM057,SSM066,SSM068,SSM078,SSM079,SSM082,SSM086,SSM087,SSM089 esv2723583 1 2866108 2866367 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 10 "" SSM026,SSM027,SSM029,SSM031,SSM036,SSM038,SSM066,SSM079,SSM086,SSM089 esv1009726 1 2866138 2866284 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 esv2723694 1 2866219 2866531 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 "" SSM026,SSM068,SSM087 esv1533261 1 2866372 2866519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287368 S 2 0 1 "" HuRef esv2723805 1 2876075 2877292 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 20 "" SSM002,SSM004,SSM006,SSM008,SSM021,SSM025,SSM029,SSM031,SSM033,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM058,SSM059,SSM063,SSM083,SSM089 esv2723917 1 2876409 2876948 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 8 "" SSM008,SSM021,SSM031,SSM033,SSM050,SSM055,SSM083,SSM089 esv2132425 1 2876448 2876895 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889243 S 1 0 1 "" NA18507 esv3109 1 2876559 2876831 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25550 S 1 0 1 Single Asian sample YH "" YH esv993932 1 2876594 2876713 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 2876601 2876721 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656039 S 2 0 1 "" HuRef nsv871484 1 2879640 2919150 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 2879640 2937312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584760 S 6533 0 1 "" IS37172 dgv89n71 1 2879640 3020246 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 2879640 3646291 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 2889577 2984087 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547673 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACTRT2,FLJ42875 HGDP00978 esv2724028 1 2890693 2891582 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 36 "" SSM003,SSM008,SSM012,SSM013,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM023,SSM024,SSM025,SSM027,SSM029,SSM031,SSM033,SSM037,SSM039,SSM043,SSM045,SSM047,SSM064,SSM065,SSM066,SSM067,SSM068,SSM071,SSM072,SSM081,SSM082,SSM085,SSM092,SSM095,SSM099 esv2671460 1 2891195 2891328 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5724554,essv6329559,essv5920819,essv5476303,essv5773475,essv5487623 M 1151 0 6 "" HG00344,HG01497,NA18519,NA19138,NA19371,NA19428 esv25503 1 2892794 2894919 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21208 S 451 0 2 "" NA12006,NA18907 dgv90n71 1 2896735 2944527 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871584,nsv871869 M 6533 0 2 ACTRT2 IS35484,IS39233 esv2724139 1 2911470 2911882 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 24 "" SSM011,SSM016,SSM022,SSM023,SSM024,SSM026,SSM029,SSM031,SSM032,SSM044,SSM067,SSM071,SSM074,SSM075,SSM076,SSM078,SSM080,SSM081,SSM084,SSM087,SSM094,SSM096,SSM097,SSM098 esv7294 1 2911489 2911856 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29735 S 1 0 1 "" SJK esv4855 1 2911490 2911934 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27296 S 1 0 1 Single Asian sample YH "" YH esv2667586 1 2911536 2911850 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6546084,essv5514647,essv6500485,essv6182430,essv6471882,essv6324571,essv6484674,essv5824283,essv6540235,essv5717384,essv6503607,essv6150955,essv6531586,essv6188176,essv6505896,essv5979194,essv6589446,essv5522431,essv6455744,essv6285915,essv6560103,essv5522718,essv6474271,essv5965560,essv6499626,essv6352766,essv6472809,essv5529389,essv6503602,essv5530400,essv6567925,essv5531187,essv6568335,essv5907508,essv6577574,essv6240356,essv6474145,essv5954480,essv6453260,essv5536256,essv6557510,essv5893861,essv6511759,essv5539004,essv6496876,essv5878194,essv6566499,essv5673315,essv6594821,essv6250047,essv6592379,essv5929203,essv6548915,essv6069551,essv6533516,essv5543551,essv6517932,essv5827690,essv6500333,essv6081983,essv6508860,essv6141935,essv6525387,essv5777985,essv6488904,essv5803288,essv6453170,essv6296610,essv6583551,essv6289370,essv6553706,essv5716623,essv6535176,essv6215307,essv6459210,essv6416709,essv6507030,essv5551330,essv6501835,essv5788490,essv6576278,essv6407852,essv6496407,essv5553306,essv6462531,essv6029670,essv6567597,essv5554599,essv6453878,essv6320741,essv6570143,essv5957593,essv6494449,essv5557036,essv6476173,essv5558327,essv6501274,essv6123083,essv6584130,essv5944221,essv6455860,essv5928482,essv5564212,essv6047266,essv6278895,essv6020974,essv6178908,essv5572191,essv5729242,essv5572810,essv6424164,essv5574767,essv6357511,essv5575340,essv5577290,essv6027374,essv5580301,essv6107651,essv6277988,essv5584890,essv5752055,essv5794795,essv6325314,essv5589478,essv6139442,essv5592265,essv5896668,essv6423304,essv6427134,essv5596378,essv6059076,essv5597447,essv5962761,essv5599481,essv5599535,essv6158664,essv5600500,essv5929348,essv6064594,essv5719282,essv6289495,essv6444702,essv5982590,essv5935603,essv5612072,essv5614234,essv5614898,essv6181482,essv6059706,essv5800077,essv5624718,essv6444118,essv6316689,essv5778612,essv6430296,essv5758043,essv5629229,essv5778284,essv5997269,essv6023067,essv5631767,essv6374716,essv6232842,essv5633640,essv6382925,essv5634505,essv5636136,essv5792620,essv6089632,essv5637052,essv6320529,essv5639321,essv5642245,essv5642484,essv5643554,essv6010568,essv5890825,essv5995042,essv5647612,essv5647681,essv6282586,essv5731720,essv5650561,essv6248812,essv5918835,essv5656032,essv6124221,essv5904263,essv5996953,essv6150690,essv6200401,essv6359035,essv5661341,essv6166535,essv5875505,essv5969130,essv6451584,essv6452183,essv6085222,essv5750076,essv5913453,essv6016530,essv5673991,essv5899267,essv5910785,essv5684112,essv5677856,essv5685298,essv6427320,essv5726003,essv6370344,essv5921357,essv6304341,essv5778444,essv5699555,essv6061978,essv5898796,essv5704851,essv5708533,essv5895777,essv6286314,essv5965992,essv5717642,essv6138939,essv5714971,essv6071298,essv6393805,essv5841860,essv6358698,essv6223844,essv6096167,essv5741322,essv6426326,essv6003240,essv6208177,essv5786723,essv5997070,essv5912437,essv5924521,essv6360480,essv6051652,essv6178123,essv5712060,essv5742756,essv5891034,essv5843227,essv5708654,essv6409577,essv6028850,essv6303811,essv5951358,essv6239650,essv6120270,essv6303278,essv5912479,essv6282062,essv6017543,essv5697903,essv6435010,essv6009364,essv5985580,essv6425321,essv6386009,essv6371236,essv6287666,essv6414549,essv5966983,essv6083586,essv6035403,essv6088168,essv6347902,essv5672362,essv6097870,essv5399971,essv6129225,essv5404463,essv6304368,essv6041414,essv5774344,essv5701686,essv5701034,essv6090651,essv6195869,essv5671053,essv5414063,essv6153588,essv5414557,essv6390027,essv6366191,essv5688414,essv5691096,essv6231796,essv6288601,essv5761784,essv6164704,essv6233318,essv5428152,essv5429758,essv5858963,essv5431123,essv6124274,essv5857475,essv6345432,essv5432275,essv5432906,essv6382314,essv5433339,essv5856810,essv5435381,essv5435936,essv6302425,essv6056868,essv5856474,essv5855943,essv5719839,essv5443311,essv5866133,essv5865000,essv5447486,essv5447744,essv5447805,essv5693233,essv6329132,essv6304212,essv5691787,essv6079485,essv5771748,essv5454994,essv6103358,essv6390650,essv5458624,essv6043574,essv5461812,essv6283295,essv5465497,essv6087893,essv5869052,essv6057477,essv5469348,essv5469481,essv6079552,essv6365732,essv5945472,essv5474192,essv5725070,essv6418922,essv5476202,essv6276334,essv5477946,essv6386313,essv6193962,essv5480759,essv5486533,essv5906920,essv6174985,essv5994376,essv5489110,essv5489245,essv5915770,essv6074675,essv6075567,essv5490928,essv5490976,essv5720133,essv6448555,essv6062470,essv5755211,essv5500985,essv6028525,essv5502157,essv5826988,essv5504884,essv5507776,essv6135267,essv5893770,essv5509926,essv6025859,essv5831713,essv6112486,essv6192928,essv5512415 M 1151 0 381 "" HG00137,HG00140,HG00154,HG00159,HG00179,HG00237,HG00249,HG00252,HG00254,HG00258,HG00271,HG00285,HG00313,HG00335,HG00345,HG00373,HG00421,HG00436,HG00437,HG00442,HG00448,HG00449,HG00472,HG00475,HG00476,HG00478,HG00479,HG00512,HG00524,HG00525,HG00531,HG00533,HG00534,HG00542,HG00543,HG00557,HG00566,HG00583,HG00590,HG00608,HG00610,HG00625,HG00628,HG00629,HG00654,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00699,HG00705,HG00707,HG00708,HG00732,HG00734,HG00736,HG01069,HG01075,HG01079,HG01083,HG01101,HG01108,HG01167,HG01170,HG01190,HG01204,HG01254,HG01334,HG01350,HG01351,HG01354,HG01357,HG01360,HG01366,HG01374,HG01378,HG01384,HG01465,HG01488,HG01491,HG01515,NA06986,NA06994,NA07048,NA07347,NA11829,NA11830,NA11831,NA11894,NA11918,NA11920,NA11933,NA11994,NA12043,NA12155,NA12249,NA12282,NA12287,NA12348,NA12383,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12776,NA12813,NA12827,NA12878,NA12891,NA18488,NA18498,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18520,NA18523,NA18526,NA18530,NA18532,NA18534,NA18537,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18560,NA18561,NA18562,NA18563,NA18564,NA18566,NA18572,NA18573,NA18574,NA18577,NA18579,NA18582,NA18592,NA18596,NA18597,NA18599,NA18603,NA18605,NA18606,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18617,NA18618,NA18619,NA18621,NA18622,NA18623,NA18627,NA18630,NA18632,NA18634,NA18853,NA18856,NA18858,NA18861,NA18868,NA18870,NA18907,NA18909,NA18910,NA18916,NA18917,NA18924,NA18940,NA18941,NA18942,NA18944,NA18945,NA18947,NA18951,NA18953,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA18982,NA18985,NA18986,NA18987,NA18990,NA18991,NA19005,NA19010,NA19054,NA19055,NA19065,NA19066,NA19072,NA19098,NA19099,NA19102,NA19107,NA19108,NA19114,NA19119,NA19129,NA19130,NA19131,NA19138,NA19144,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19189,NA19190,NA19197,NA19198,NA19200,NA19201,NA19204,NA19207,NA19209,NA19210,NA19223,NA19236,NA19238,NA19239,NA19240,NA19257,NA19311,NA19312,NA19313,NA19316,NA19318,NA19319,NA19321,NA19327,NA19328,NA19331,NA19332,NA19334,NA19338,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19385,NA19390,NA19391,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19401,NA19403,NA19404,NA19428,NA19429,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19457,NA19461,NA19466,NA19467,NA19468,NA19469,NA19471,NA19472,NA19473,NA19474,NA19625,NA19654,NA19663,NA19670,NA19700,NA19701,NA19703,NA19704,NA19711,NA19712,NA19713,NA19716,NA19720,NA19722,NA19726,NA19732,NA19747,NA19776,NA19779,NA19780,NA19782,NA19818,NA19834,NA19835,NA19909,NA19914,NA19917,NA19920,NA19982,NA19985,NA20127,NA20276,NA20282,NA20287,NA20291,NA20317,NA20356,NA20507,NA20525,NA20529,NA20534,NA20536,NA20537,NA20585,NA20756,NA20765,NA20774,NA20796 esv2724250 1 2918307 2918898 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 14 "" SSM003,SSM004,SSM007,SSM009,SSM012,SSM018,SSM025,SSM026,SSM038,SSM041,SSM044,SSM055,SSM069,SSM081 esv2667684 1 2918672 2919955 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6361039 S 1151 0 1 "" HG01124 esv2670784 1 2919031 2919366 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5516011,essv5845033,essv6473788,essv6504886,essv5676123,essv5888783,essv6197085,essv6022989,essv6098192,essv5919493,essv5543768,essv6311507,essv5832535,essv6578743,essv5552976,essv6502250,essv6057669,essv6320765,essv5573415,essv5725435,essv6090818,essv6465566,essv6216524,essv5884558,essv6251529,essv5588588,essv6077957,essv6356611,essv5593902,essv6252438,essv6293425,essv6522160,essv5602371,essv5605448,essv5938283,essv5608294,essv5609848,essv6588504,essv6383875,essv5994927,essv6149007,essv6545117,essv6108901,essv6248609,essv6071774,essv6013512,essv5625343,essv5626515,essv6010515,essv6488384,essv5757246,essv6229658,essv6006306,essv5645942,essv6298250,essv5749338,essv6463619,essv5882249,essv5656248,essv5658732,essv5941668,essv6286225,essv6509575,essv6395209,essv5676796,essv6221677,essv6125588,essv6446882,essv5805781,essv6213795,essv5695368,essv6175610,essv5950451,essv5707701,essv5707531,essv6097296,essv6429478,essv5946869,essv5776747,essv5743002,essv5910984,essv5984772,essv5838156,essv5948208,essv6290344,essv6300416,essv6046184,essv5768297,essv6544689,essv5802399,essv5729104,essv6287272,essv5815156,essv6406995,essv6072478,essv6525071,essv5396024,essv5699689,essv5397498,essv5670266,essv5402798,essv5404440,essv5813093,essv6255770,essv5411894,essv6287300,essv6478079,essv5422458,essv6092954,essv5688894,essv5430982,essv5431264,essv5756825,essv6378956,essv5436797,essv5438938,essv6333025,essv6231333,essv6473198,essv6441578,essv6496957,essv5767237,essv5749032,essv5865350,essv5695235,essv6319932,essv5451855,essv5718031,essv5455553,essv5683127,essv5466216,essv6408277,essv6527558,essv5880202,essv6461755,essv6567166,essv6467509,essv6183062,essv5475936,essv6097660,essv6582473,essv6192468,essv5485071,essv6530854,essv6391995,essv5489446,essv6200508,essv5843000,essv6191912,essv5968624,essv5980229,essv5753674,essv6272950,essv5500108,essv5502367,essv5504364,essv6246125,essv6392009,essv5513115 M 1151 0 159 "" HG00098,HG00122,HG00137,HG00140,HG00148,HG00154,HG00159,HG00187,HG00237,HG00249,HG00252,HG00254,HG00285,HG00313,HG00335,HG00345,HG00361,HG00373,HG00421,HG00442,HG00476,HG00478,HG00512,HG00524,HG00525,HG00531,HG00533,HG00542,HG00557,HG00560,HG00592,HG00608,HG00611,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00692,HG00707,HG00708,HG01079,HG01083,HG01101,HG01112,HG01188,HG01204,HG01334,HG01351,HG01354,HG01357,HG01365,HG01366,HG01378,HG01488,HG01497,NA06986,NA11894,NA11918,NA11920,NA11933,NA12043,NA12046,NA12155,NA12249,NA12282,NA12348,NA12383,NA12489,NA12716,NA12750,NA12827,NA12878,NA12891,NA18532,NA18534,NA18537,NA18541,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18552,NA18555,NA18557,NA18560,NA18563,NA18564,NA18572,NA18573,NA18579,NA18597,NA18605,NA18606,NA18608,NA18609,NA18611,NA18612,NA18617,NA18619,NA18621,NA18622,NA18623,NA18624,NA18627,NA18628,NA18630,NA18632,NA18940,NA18943,NA18945,NA18947,NA18951,NA18953,NA18959,NA18964,NA18973,NA18983,NA18984,NA18986,NA19009,NA19057,NA19063,NA19065,NA19066,NA19072,NA19075,NA19080,NA19654,NA19663,NA19664,NA19720,NA19726,NA19731,NA19732,NA19746,NA19759,NA19771,NA19776,NA19779,NA19782,NA19783,NA19788,NA19914,NA20507,NA20525,NA20529,NA20537,NA20585,NA20756,NA20765,NA20771,NA20772,NA20786,NA20796 esv2724361 1 2919032 2919364 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 "" SSM011,SSM042,SSM080,SSM097 nsv829759 1 2923149 3011137 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 2928421 3006131 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871476,nsv871962 M 6533 0 2 ACTRT2,FLJ42875,PRDM16 IS34304,IS40799 esv2724472 1 2932636 2933154 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 21 "" SSM004,SSM010,SSM013,SSM015,SSM016,SSM020,SSM021,SSM025,SSM026,SSM027,SSM029,SSM031,SSM032,SSM046,SSM055,SSM063,SSM078,SSM081,SSM084,SSM087,SSM090 esv1972331 1 2932833 2933235 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751842 S 1 0 1 "" NA18507 esv2667710 1 2932976 2933125 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6540364,essv5519747,essv6571961,essv6046485,essv6542912,essv5804538,essv6538483,essv5564448,essv6075789,essv5786327,essv5581092,essv6360948,essv6187649,essv6369709,essv6092048,essv5663561,essv6031525,essv6400467,essv6398348,essv6038826,essv5398100,essv6366811,essv5783089,essv5410465,essv6104804,essv5431062,essv5688099,essv5438563,essv6112223,essv5869163,essv5873465,essv6207197,essv6311064,essv5870910,essv5500314,essv5795985,essv6212539,essv6371418,essv6174015 M 1151 0 39 "" HG00442,HG00449,HG00513,HG00581,HG00683,HG00699,HG01334,HG01350,HG01366,HG01498,NA12827,NA18505,NA18526,NA18545,NA18546,NA18559,NA18566,NA18570,NA18573,NA18605,NA18606,NA18611,NA18612,NA18621,NA18622,NA19114,NA19138,NA19190,NA19225,NA19374,NA19382,NA19383,NA19391,NA19395,NA20278,NA20281,NA20299,NA20341,NA20356 esv2494725 1 2942135 2943124 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336919 S 1 1 0 "" NA18507 nsv871668 1 2951834 3020246 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 2959267 2959267 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179056 M 24 "" nsv871200 1 2974852 3047252 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 2975857 2994712 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426367 S 31 1 0 FLJ42875,PRDM16 AK6 esv2724583 1 3026897 3027263 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 PRDM16 SSM023,SSM026,SSM028,SSM052,SSM075,SSM085 dgv92n71 1 3047252 3209923 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871419,nsv871104 M 6533 0 2 PRDM16 MS10123,MS16153 nsv871578 1 3057661 3131235 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 3062361 3104630 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534983 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRDM16 HGDP01234 esv2724694 1 3062924 3063826 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 8 PRDM16 SSM007,SSM009,SSM012,SSM053,SSM059,SSM087,SSM088,SSM092 esv2664338 1 3062996 3063479 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6381855 S 1151 0 1 PRDM16 NA12287 esv2676112 1 3063031 3063348 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6514533,essv5572598,essv5955277,essv6446228,essv5839364,essv6197856,essv5787724,essv5787793 M 1151 0 8 PRDM16 HG01441,NA11843,NA19172,NA19189,NA19443,NA19453,NA19470,NA20797 esv2724805 1 3063032 3063415 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 PRDM16 SSM007 esv2724916 1 3063257 3063844 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 PRDM16 SSM012,SSM053,SSM059,SSM087,SSM088,SSM092 esv2665020 1 3063483 3063603 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6558192,essv5723740,essv6442376,essv5541041,essv5559955,essv5580727,essv6173071,essv6159727,essv5599691,essv6116403,essv5787323,essv6022081,essv6234778,essv6030097,essv5812738,essv6165957,essv5403763,essv5458481,essv6163417,essv5502467,essv5507240 M 1151 0 21 PRDM16 HG00327,HG00335,HG00473,HG00531,HG00581,HG00583,HG00607,HG00654,HG00657,HG00662,HG00683,HG00702,HG00705,NA18547,NA18562,NA18595,NA18610,NA18611,NA18623,NA18949,NA19002 esv2725029 1 3079516 3079858 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 PRDM16 SSM009,SSM039,SSM053,SSM087,SSM092,SSM099 nsv871691 1 3080855 3131235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592086 S 6533 0 1 PRDM16 IS39233 esv2725140 1 3081582 3082136 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 PRDM16 SSM021,SSM023,SSM064 esv2725251 1 3081642 3081908 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 PRDM16 SSM021,SSM023 esv22935 1 3081707 3082806 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20220 S 451 5 0 PRDM16 NA07037,NA12004,NA12828,NA18523,NA19240 esv2725362 1 3081981 3082428 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 14 PRDM16 SSM017,SSM021,SSM025,SSM026,SSM029,SSM033,SSM035,SSM044,SSM045,SSM046,SSM056,SSM061,SSM082,SSM083 esv2662377 1 3082051 3082399 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6387702,essv5526373,essv6584466,essv5529709,essv6538462,essv5874746,essv6245572,essv5675554,essv6306676,essv5926716,essv6286208,essv5541246,essv6274084,essv5542135,essv6395125,essv5543393,essv6461104,essv5545290,essv6356412,essv6091505,essv6337981,essv6027703,essv6506679,essv5555654,essv6521146,essv5559838,essv6249623,essv6163803,essv6504564,essv6112108,essv6322722,essv6189458,essv6373808,essv5990786,essv6526641,essv6025286,essv6542459,essv5943685,essv6588994,essv5899828,essv6568601,essv5875036,essv6391630,essv5987147,essv6337398,essv5896676,essv6429513,essv6117538,essv6298081,essv6082472,essv6508168,essv6193640,essv6292284,essv6049657,essv6448046,essv5678624,essv6422607,essv5642389,essv6252831,essv5731192,essv6251044,essv5647864,essv6244611,essv6000764,essv6129654,essv5649876,essv5651766,essv5812292,essv6181202,essv5783985,essv5659194,essv6230481,essv5665526,essv6201697,essv5675793,essv5930357,essv5840446,essv5983683,essv6091377,essv5710521,essv5828794,essv5730609,essv6100803,essv6191098,essv5926559,essv5752439,essv5755154,essv5904917,essv6068129,essv5977786,essv6032443,essv6225449,essv5841234,essv5703019,essv5779366,essv5665082,essv5397932,essv5398800,essv5806442,essv5406361,essv5774820,essv6125869,essv5850489,essv5744813,essv5848025,essv5424731,essv6116683,essv5848289,essv5431659,essv6157596,essv6224723,essv5861509,essv5693036,essv5443857,essv6172207,essv6153613,essv5771735,essv5462076,essv5464148,essv6015486,essv6089295,essv5478028,essv6020196,essv5494452,essv5501467,essv5512908,essv5781509 M 1151 0 127 PRDM16 HG00111,HG00123,HG00124,HG00125,HG00150,HG00151,HG00154,HG00159,HG00249,HG00250,HG00251,HG00256,HG00276,HG00277,HG00309,HG00310,HG00315,HG00318,HG00321,HG00324,HG00330,HG00331,HG00334,HG00337,HG00338,HG00342,HG00344,HG00346,HG00369,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00463,HG00464,HG00478,HG00500,HG00513,HG00533,HG00534,HG00543,HG00557,HG00580,HG00581,HG00584,HG00590,HG00607,HG00619,HG00620,HG00650,HG00651,HG00653,HG00656,HG00672,HG00690,HG00699,HG00701,HG00702,HG00705,HG00707,HG00708,HG00734,HG01060,HG01067,HG01069,HG01072,HG01073,HG01079,HG01080,HG01101,HG01107,HG01124,HG01125,HG01136,HG01170,HG01183,HG01204,HG01334,HG01350,HG01351,HG01365,HG01374,HG01375,HG01389,HG01462,HG01498,NA07051,NA07056,NA12043,NA12058,NA18519,NA18530,NA18534,NA18536,NA18542,NA18543,NA18544,NA18546,NA18548,NA18549,NA18558,NA18559,NA18574,NA18595,NA18596,NA18597,NA18599,NA18606,NA18612,NA18619,NA18620,NA18621,NA18635,NA18637,NA18910,NA18990,NA19312,NA19436,NA19463,NA19657,NA19720,NA19834,NA20510 nsv458995 1 3083712 3113680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535843 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRDM16 HGDP00814 esv25107 1 3083952 3084887 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12712 S 451 1 0 PRDM16 NA12156 esv1279453 1 3084534 3084770 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971964 S 2 0 1 PRDM16 HuRef esv1001450 1 3097398 3098603 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 3097463 3098803 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18850 S 451 6 0 PRDM16 NA11931,NA12004,NA12006,NA12287,NA12776,NA15510 esv2447933 1 3097910 3097971 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170486 S 1 0 1 PRDM16 NA18507 esv2725473 1 3097917 3098302 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 PRDM16 SSM072 nsv160334 1 3098015 3098015 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178912 M 24 PRDM16 esv2725584 1 3098199 3098558 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 PRDM16 SSM089,SSM093 esv2657185 1 3098346 3098555 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6481659,essv5517489,essv6413614,essv5960012,essv6266510,essv5527601,essv6353649,essv5530266,essv6174391,essv5538615,essv6144611,essv5800105,essv6514978,essv5912654,essv6406267,essv5731107,essv6130985,essv5553972,essv6581950,essv6029226,essv6125472,essv5561632,essv6384544,essv5743893,essv6519104,essv5573588,essv6287528,essv6016917,essv6411772,essv5575901,essv6450394,essv5576937,essv6143427,essv5587160,essv6564065,essv6028664,essv6102864,essv5591039,essv6063549,essv5760161,essv6383401,essv5596195,essv6063420,essv5598397,essv6184856,essv5599375,essv6209918,essv5929347,essv6179293,essv5606857,essv6519644,essv5608004,essv6156345,essv5955537,essv6262356,essv5836212,essv6483158,essv5748316,essv6267594,essv5918341,essv6085530,essv5625710,essv6089536,essv5717895,essv6377465,essv5630755,essv6595667,essv5632080,essv6201420,essv5632713,essv6303026,essv5634582,essv6292795,essv5635263,essv6149953,essv5897468,essv6115199,essv5641195,essv6320415,essv5920614,essv6107795,essv6010567,essv6456899,essv6001097,essv6155625,essv5649474,essv6183646,essv5651570,essv6377654,essv5652322,essv6367521,essv5817653,essv6307286,essv5808855,essv6398079,essv5934042,essv6421513,essv5938465,essv6090124,essv5670385,essv6252553,essv5976114,essv6371866,essv5813682,essv6176643,essv5767879,essv6384175,essv5682351,essv6147693,essv5960808,essv6276811,essv5688988,essv6160385,essv5708029,essv6382914,essv5716770,essv6211074,essv6031175,essv6153612,essv5809740,essv6303091,essv5795763,essv6194040,essv5821976,essv6203728,essv5983257,essv6589562,essv5909746,essv6292746,essv5818384,essv6257623,essv5880948,essv5951367,essv5902078,essv5977768,essv5838530,essv5759878,essv5880601,essv5676195,essv5972060,essv6039583,essv6034438,essv5705542,essv5408262,essv5788001,essv5433508,essv5433823,essv5437567,essv5443094,essv5866769,essv5468949,essv5477444,essv5485848,essv5489336,essv5493343,essv5494361,essv5497188,essv6041890,essv5922822,essv5509902,essv5512162,essv5976471 M 1151 0 162 PRDM16 HG00098,HG00111,HG00115,HG00124,HG00151,HG00152,HG00154,HG00159,HG00188,HG00249,HG00250,HG00264,HG00265,HG00272,HG00276,HG00277,HG00281,HG00308,HG00310,HG00311,HG00312,HG00313,HG00337,HG00338,HG00342,HG00344,HG00346,HG00357,HG00369,HG00380,HG00418,HG00428,HG00437,HG00463,HG00464,HG00533,HG00577,HG00580,HG00590,HG00593,HG00619,HG00625,HG00637,HG00651,HG00690,HG00693,HG00699,HG00705,HG00734,HG00736,HG00737,HG00739,HG01052,HG01060,HG01069,HG01070,HG01072,HG01073,HG01079,HG01080,HG01107,HG01124,HG01136,HG01137,HG01171,HG01190,HG01191,HG01251,HG01253,HG01334,HG01353,HG01357,HG01359,HG01360,HG01374,HG01383,HG01384,HG01390,HG01441,HG01462,HG01489,HG01516,HG01521,NA07051,NA07056,NA11992,NA12058,NA12155,NA12341,NA12347,NA12399,NA18487,NA18507,NA18530,NA18541,NA18542,NA18550,NA18570,NA18574,NA18582,NA18597,NA18606,NA18612,NA18619,NA18620,NA18638,NA18868,NA18933,NA18963,NA18977,NA18986,NA18999,NA19055,NA19065,NA19074,NA19080,NA19088,NA19198,NA19225,NA19235,NA19312,NA19316,NA19317,NA19373,NA19374,NA19381,NA19396,NA19404,NA19435,NA19436,NA19437,NA19438,NA19451,NA19461,NA19463,NA19660,NA19670,NA19675,NA19685,NA19713,NA19720,NA19749,NA19758,NA19759,NA19761,NA19776,NA19783,NA19785,NA19917,NA19985,NA20294,NA20317,NA20341,NA20513,NA20529,NA20540,NA20588,NA20758,NA20802,NA20803,NA20805,NA20809 nsv871860 1 3101353 3162209 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 3126805 3256088 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 3130339 3130424 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 3140464 3208375 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 3144745 3208830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704374 S 2026 0 1 PRDM16 nsv829981 1 3152592 3333816 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441607,nssv1441530,nssv1441641,nssv1441519,nssv1441618,nssv1441563,nssv1441652,nssv1441663,nssv1441574,nssv1441541,nssv1441630,nssv1441585,nssv1441674,nssv1441685,nssv1441596,nssv1441552 M 95 0 16 PRDM16 nsv870698 1 3162209 3204143 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 3177065 3177709 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229663 S 1 1 0 PRDM16 NA18507 nsv870992 1 3178111 3236041 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 3181415 3210950 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871315,nsv871128,nsv871225 M 6533 0 4 PRDM16 IS32322,IS33684,IS34304,MS16315 dgv94n71 1 3184855 3259113 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871593,nsv871677 M 6533 0 2 PRDM16 IS39233,MS11306 nsv871025 1 3197747 3209923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578969 S 6533 0 1 PRDM16 IS35007 esv2725695 1 3203828 3204224 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 PRDM16 SSM023,SSM024,SSM062,SSM069 esv2725806 1 3203845 3204042 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 PRDM16 SSM023,SSM024,SSM069 esv2725917 1 3204143 3204364 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 PRDM16 SSM046,SSM065,SSM087 dgv6n67 1 3209858 3211328 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824808,nsv824919 M 31 0 2 PRDM16 AK14,NA18552 esv2670143 1 3209949 3212147 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6405701,essv6215077,essv6527111,essv6317073,essv6423827,essv6330380 M 1151 0 6 PRDM16 HG00418,HG00427,HG00581,HG00592,NA18552,NA19003 nsv7645 1 3214107 3249187 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4419 S 9 1 0 PRDM16 NA12878 nsv161030 1 3214565 3214565 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179608 M 24 PRDM16 esv2582992 1 3215213 3217295 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311128 S 1 0 1 PRDM16 NA18507 esv2000244 1 3215531 3216456 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511826 S 1 0 1 PRDM16 NA18507 nsv511673 1 3215607 3217688 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626311 S 1 0 1 PRDM16 1 esv1917341 1 3215619 3216216 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748244 S 1 0 1 PRDM16 NA18507 esv22281 1 3215660 3217110 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11880 S 451 0 11 PRDM16 NA11894,NA12004,NA12006,NA12044,NA12489,NA12878,NA15510,NA18502,NA18511,NA18861,NA19240 esv2726028 1 3215812 3216078 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 20 PRDM16 SSM011,SSM014,SSM016,SSM018,SSM023,SSM024,SSM028,SSM044,SSM046,SSM065,SSM068,SSM079,SSM080,SSM081,SSM084,SSM086,SSM088,SSM089,SSM096,SSM098 esv2726140 1 3216259 3216974 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 36 PRDM16 SSM004,SSM017,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM033,SSM037,SSM039,SSM042,SSM043,SSM044,SSM045,SSM047,SSM065,SSM067,SSM068,SSM069,SSM070,SSM072,SSM073,SSM074,SSM077,SSM079,SSM081,SSM082,SSM084,SSM086,SSM087,SSM095,SSM096,SSM100 nsv830092 1 3217946 3383373 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 3227188 3228915 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694919 S 2026 0 1 PRDM16 dgv95n71 1 3227188 3558228 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870630,nsv871552 M 6533 0 2 ARHGEF16,MEGF6,MIR551A,PRDM16,TPRG1L,WRAP73 IS31045,MS11237 esv2662201 1 3238067 3238529 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6229789,essv5798711,essv6400750,essv6010041,essv6524346,essv5723965,essv6282709,essv5556253,essv6487762,essv5802014,essv6377111,essv5576041,essv6282849,essv5579548,essv6540045,essv5602859,essv6117936,essv5610976,essv5764376,essv6010527,essv5620017,essv6093751,essv6156319,essv6133019,essv5654746,essv5797750,essv5823120,essv5677945,essv5684629,essv5904874,essv5907889,essv6193777,essv5840751,essv6201031,essv6172970,essv5750981,essv5413984,essv6127966,essv5692928,essv5718955,essv5467613,essv6064507,essv5503928,essv6146874,essv5980277,essv5513919,essv6147593 M 1151 0 47 PRDM16 HG01094,HG01108,NA18486,NA18488,NA18510,NA18519,NA18520,NA18523,NA18853,NA18874,NA18907,NA18910,NA19092,NA19093,NA19099,NA19108,NA19116,NA19138,NA19313,NA19319,NA19321,NA19359,NA19360,NA19372,NA19373,NA19374,NA19377,NA19382,NA19431,NA19443,NA19455,NA19471,NA19472,NA19649,NA19676,NA19711,NA19818,NA19835,NA19900,NA19904,NA19920,NA20127,NA20287,NA20291,NA20322,NA20346,NA20507 esv2726251 1 3242377 3243049 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 PRDM16 SSM012,SSM026,SSM031,SSM040,SSM043,SSM070,SSM099 esv2726362 1 3242488 3242704 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 PRDM16 SSM026,SSM031,SSM070,SSM099 esv998521 1 3242595 3242653 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 3242609 3242668 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645168 S 2 0 1 PRDM16 HuRef esv2726473 1 3252915 3253356 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 PRDM16 SSM018 nsv526836 1 3259113 3259183 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703193 S 2026 0 1 PRDM16 nsv870990 1 3259369 3283528 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 3259369 3753813 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 esv2726584 1 3262109 3262576 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 PRDM16 SSM013,SSM019,SSM026,SSM028,SSM033,SSM040 nsv871228 1 3269828 3349513 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 3269828 3464451 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871407,nsv870933,nsv871718 M 6533 0 3 ARHGEF16,MEGF6,PRDM16 IS37646,IS38176,MS13727 nsv470687 1 3273063 3679774 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 3288938 3548853 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv386,essv3804 M 271 0 0 ARHGEF16,MEGF6,MIR551A,PRDM16,TPRG1L,WRAP73 NA18943 nsv459950 1 3289729 3301130 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536592 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRDM16 HGDP00788 dgv98n71 1 3289971 3356405 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 3289971 3711689 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 3293665 3294972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698558 S 2026 0 1 PRDM16 dgv100n71 1 3297638 3340855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871231,nsv871367,nsv871054,nsv870935 M 6533 0 4 PRDM16 IS32322,IS34304,SP54956,SP54988 nsv524467 1 3308034 3308498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700403 S 2026 0 1 PRDM16 dgv1n21 1 3308034 3314596 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521921,nsv527139 M 2026 2 0 PRDM16 dgv101n71 1 3318532 3441264 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870718,nsv870839 M 6533 0 2 ARHGEF16,MEGF6,PRDM16 IS40396,IS41634 esv2726695 1 3319273 3319787 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 PRDM16 SSM065,SSM067,SSM068,SSM069,SSM070,SSM071 esv2658512 1 3325300 3325742 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6286815,essv5514782,essv6229268,essv5536391,essv6140912,essv5912664,essv6226057,essv5544323,essv6396674,essv5546149,essv6238029,essv5561326,essv6111677,essv5990793,essv6421345,essv5570301,essv6515768,essv5987102,essv6180680,essv6062443,essv6185499,essv5875312,essv6576147,essv5827153,essv6153056,essv5922207,essv6426264,essv5608926,essv6521454,essv5612429,essv6145497,essv5761519,essv6497657,essv5753076,essv6468293,essv5751828,essv6300687,essv5965811,essv6342267,essv6065680,essv6430636,essv5640915,essv6371198,essv5793609,essv6207899,essv5981317,essv6205377,essv6101588,essv6432957,essv5906030,essv6189238,essv5711992,essv6375990,essv5683921,essv6556662,essv5694021,essv6472020,essv5895839,essv6360850,essv5825626,essv6562101,essv5931372,essv6349013,essv5962612,essv6161183,essv5825792,essv6293451,essv5405859,essv6554556,essv5827967,essv6436961,essv5415576,essv6415451,essv5416482,essv6295141,essv5707079,essv6168011,essv5428889,essv6579467,essv5442746,essv6472486,essv5680358,essv6537650,essv5457541,essv6239558,essv5461948,essv5473193,essv5488483,essv5492481,essv5512898 M 1151 0 90 PRDM16 HG00123,HG00133,HG00342,HG00437,HG01170,HG01204,NA07051,NA11892,NA11893,NA11930,NA11932,NA12340,NA12348,NA12546,NA12778,NA12827,NA12830,NA12842,NA12889,NA18486,NA18499,NA18522,NA18545,NA18548,NA18553,NA18570,NA18595,NA18597,NA18602,NA18606,NA18853,NA18908,NA18912,NA18947,NA18950,NA18956,NA18973,NA19078,NA19107,NA19247,NA19248,NA19313,NA19332,NA19334,NA19350,NA19446,NA19471,NA19473,NA19652,NA19682,NA19684,NA19700,NA19713,NA19789,NA19818,NA19920,NA20507,NA20513,NA20514,NA20521,NA20522,NA20525,NA20526,NA20533,NA20537,NA20581,NA20585,NA20760,NA20761,NA20771,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20798,NA20799,NA20801,NA20803,NA20805,NA20806,NA20809,NA20811,NA20812,NA20816,NA20819,NA20828 esv1000452 1 3334395 3339966 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 esv2726806 1 3349477 3350417 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 31 PRDM16 SSM001,SSM002,SSM004,SSM006,SSM007,SSM009,SSM010,SSM017,SSM023,SSM025,SSM026,SSM036,SSM040,SSM042,SSM047,SSM049,SSM050,SSM052,SSM053,SSM055,SSM058,SSM065,SSM068,SSM069,SSM073,SSM082,SSM084,SSM086,SSM092,SSM098,SSM099 esv4712 1 3349953 3350265 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27153 S 1 0 1 Single Asian sample YH PRDM16 YH esv2726917 1 3350115 3350323 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 PRDM16 SSM036 esv2727028 1 3359675 3359960 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 "" SSM015,SSM029,SSM047,SSM070 dgv102n71 1 3359687 3472928 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 3362256 3423467 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 3362256 3441264 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 3362256 3592436 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 3362938 3524316 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 3367019 3367019 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178929 M 24 "" dgv104n71 1 3368143 3441264 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 3381698 3531595 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871380,nsv870733 M 6533 0 2 ARHGEF16,MEGF6,MIR551A MS10769,MS11579 esv2727139 1 3391515 3391864 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 10 ARHGEF16 SSM001,SSM027,SSM029,SSM056,SSM058,SSM066,SSM078,SSM088,SSM091,SSM098 esv1571906 1 3391645 3391705 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030830 S 2 0 1 ARHGEF16 HuRef esv2727251 1 3391947 3392528 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 17 ARHGEF16 SSM013,SSM014,SSM026,SSM027,SSM031,SSM034,SSM035,SSM046,SSM049,SSM050,SSM076,SSM078,SSM086,SSM087,SSM088,SSM089,SSM097 esv2727362 1 3392079 3392299 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 12 ARHGEF16 SSM026,SSM027,SSM031,SSM034,SSM046,SSM076,SSM078,SSM086,SSM087,SSM088,SSM089,SSM097 nsv299 1 3393492 3429269 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 3401073 3405662 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825031,nsv825364,nsv825142 M 31 3 0 MEGF6 NA18542,NA18951,NA18973 nsv825253 1 3401073 3405924 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434860 S 31 0 1 MEGF6 NA18942 dgv106n71 1 3405296 3464451 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871122,nsv871229,nsv870890 M 6533 0 3 MEGF6 IS32841,IS37985,MS19630 esv2727473 1 3409553 3409993 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 MEGF6 SSM028,SSM052,SSM080,SSM086 esv2727584 1 3409786 3409924 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 MEGF6 SSM052,SSM086 esv1595391 1 3418613 3418613 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895480 S 2 1 0 MEGF6 HuRef esv2727695 1 3427077 3427204 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 MEGF6 SSM080 nsv818333 1 3441264 3456871 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417807 S 112 0 1 MEGF6 NA18853 nsv10494 1 3446134 3451956 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21444,nssv21442 M 31 0 2 Samples from several populations that are part of the HapMap project. MEGF6 NA18942,NA18975 nsv519082 1 3455757 3456592 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696553 S 2026 1 0 MEGF6 nsv870784 1 3480149 3499246 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 3480149 3520871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871341,nsv871568 M 6533 0 2 MEGF6 IS35007,MS10698 dgv108n71 1 3480149 3546935 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870915,nsv870599 M 6533 0 3 MEGF6,TPRG1L IS32918,IS33162,IS40799 nsv871823 1 3480149 3558228 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 3480149 3732707 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 3482588 3531595 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 3487126 3510633 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417551 S 112 0 1 MEGF6 NA18971 dgv109n71 1 3487126 3572774 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 3487126 3662845 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 esv2727806 1 3488775 3489147 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 MEGF6 SSM068 esv2727917 1 3489289 3489602 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 MEGF6 SSM080 esv1003247 1 3495308 3495308 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 3495329 3495329 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621012 S 2 1 0 MEGF6 HuRef esv2470115 1 3499392 3502772 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366115 S 1 0 1 MEGF6 NA18507 esv28730 1 3499732 3500631 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13258 S 451 0 3 MEGF6 NA12489,NA18861,NA18916 esv1062679 1 3500027 3500099 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165604 S 2 0 1 MEGF6 HuRef esv2728028 1 3501432 3502006 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 MEGF6 SSM011,SSM031,SSM085 esv2728139 1 3501614 3501798 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 MEGF6 SSM011,SSM031 esv2672292 1 3501678 3502157 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5820942,essv5553326,essv6141781,essv5907773,essv6292374,essv5787617,essv6420111,essv5416542 M 1151 0 8 MEGF6 HG00442,HG00512,NA18545,NA18632,NA18956,NA18973,NA18987,NA19130 esv1072885 1 3504446 3504446 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183764 S 2 1 0 MEGF6 HuRef nsv160325 1 3504447 3504447 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178903 M 24 MEGF6 esv2728250 1 3504490 3504914 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 MEGF6 SSM019,SSM022,SSM025 esv2728362 1 3507944 3508646 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 18 MEGF6 SSM010,SSM012,SSM014,SSM015,SSM017,SSM022,SSM027,SSM029,SSM037,SSM042,SSM043,SSM045,SSM059,SSM061,SSM065,SSM068,SSM086,SSM092 nsv160986 1 3508189 3508254 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179564 M 24 MEGF6 nsv160621 1 3508211 3508276 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179199 M 24 MEGF6 esv2728473 1 3508389 3508521 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 MEGF6 SSM014 esv1645766 1 3508420 3508486 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161797 S 2 0 1 MEGF6 HuRef dgv111n71 1 3511295 3637459 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870588,nsv870737 M 6533 0 2 MEGF6,TP73,TPRG1L,WRAP73 IS34235,IS40230 dgv112n71 1 3512800 3592436 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871461,nsv871548 M 6533 0 3 MEGF6,TP73,TPRG1L,WRAP73 IS34407,IS38176,MS11726 nsv870859 1 3540374 3572774 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 3551651 3583644 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10069 S 9 1 0 TP73,WRAP73 NA18956 esv2728584 1 3556786 3557383 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 8 WRAP73 SSM018,SSM026,SSM028,SSM043,SSM045,SSM070,SSM080,SSM086 esv2247294 1 3556844 3557317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665883 S 1 0 1 WRAP73 NA18507 esv2489412 1 3559736 3561398 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381740 S 1 0 1 WRAP73 NA18507 esv2728695 1 3559919 3561161 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 14 WRAP73 SSM026,SSM027,SSM029,SSM031,SSM047,SSM049,SSM050,SSM056,SSM058,SSM078,SSM086,SSM087,SSM088,SSM089 esv29463 1 3560245 3560955 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11696 S 451 0 1 WRAP73 NA15510 esv1007908 1 3560447 3560956 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 esv2728806 1 3560661 3560890 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 WRAP73 SSM031,SSM035,SSM086,SSM088,SSM089 esv2728917 1 3561937 3562099 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 WRAP73 SSM046 esv2729028 1 3575381 3575552 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 TP73 SSM021 nsv830314 1 3577340 3720839 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 3585041 3655536 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1254,essv20812 M 271 0 0 TP73,TP73-AS1 NA10855 esv2729139 1 3591147 3592410 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 41 TP73 SSM001,SSM002,SSM003,SSM006,SSM008,SSM009,SSM010,SSM012,SSM014,SSM015,SSM016,SSM017,SSM021,SSM022,SSM025,SSM026,SSM027,SSM029,SSM031,SSM032,SSM033,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM057,SSM058,SSM059,SSM061,SSM062,SSM065,SSM066,SSM078,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089 esv2729250 1 3591671 3591789 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 TP73 SSM014,SSM032,SSM086,SSM089 dgv113n71 1 3592436 3662845 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 3597017 3671791 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536686 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC27,TP73,TP73-AS1 HGDP00787 nsv870977 1 3597017 3696000 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 esv2729361 1 3598202 3598787 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 28 TP73 SSM005,SSM007,SSM011,SSM013,SSM020,SSM022,SSM023,SSM028,SSM034,SSM035,SSM038,SSM039,SSM040,SSM041,SSM043,SSM044,SSM047,SSM052,SSM064,SSM069,SSM070,SSM072,SSM075,SSM080,SSM083,SSM089,SSM091,SSM099 esv1394802 1 3610346 3610346 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024850 S 2 1 0 TP73 HuRef esv1032022 1 3610682 3610682 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640841 S 2 1 0 TP73 HuRef esv1115862 1 3610827 3610827 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358577 S 2 1 0 TP73 HuRef esv1634361 1 3610899 3611319 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887450 S 2 0 1 TP73 HuRef esv2729473 1 3613541 3613926 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 TP73 SSM028 nsv871368 1 3616601 3662845 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 esv2729584 1 3622921 3623035 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 TP73 SSM039 nsv871021 1 3630476 3653426 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 esv2729695 1 3639396 3639596 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 TP73 SSM028,SSM079 esv994567 1 3652123 3655370 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 esv2729806 1 3655925 3656206 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 TP73-AS1 SSM067,SSM068,SSM081,SSM086 nsv830425 1 3657453 3758389 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442007 S 95 1 0 CCDC27,CEP104,LOC388588,LRRC47,TP73-AS1 nsv871323 1 3657759 3787749 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 esv2677777 1 3666629 3668433 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5908521 S 1151 0 1 "" NA19390 esv2659590 1 3670537 3671607 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6358993,essv5786877,essv6424233,essv6060763,essv6182763,essv5470080,essv5770360 M 1151 0 7 CCDC27 NA18501,NA18853,NA18910,NA19373,NA19381,NA19397,NA19473 dgv114n71 1 3684185 3753813 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871435,nsv871693 M 6533 0 2 CCDC27,CEP104,LOC388588,LRRC47 MS10769,MS21402 esv1678500 1 3714289 3714289 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118454 S 2 1 0 "" HuRef esv2729917 1 3716760 3717353 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 "" SSM027,SSM063,SSM087 esv1763700 1 3716941 3717091 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015442 S 2 0 1 "" HuRef dgv6e199 1 3716953 3717153 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2676394,esv2663574 M 1151 0 81 "" HG00108,HG00111,HG00125,HG00136,HG00140,HG00142,HG00151,HG00154,HG00232,HG00253,HG00261,HG00268,HG00275,HG00280,HG00284,HG00285,HG00309,HG00310,HG00318,HG00320,HG00324,HG00326,HG00331,HG00334,HG00337,HG00346,HG00436,HG00501,HG00524,HG00589,HG00590,HG00657,HG00662,HG00692,HG00740,HG01048,HG01051,HG01067,HG01073,HG01108,HG01125,HG01173,HG01187,HG01350,HG01353,HG01365,HG01374,HG01437,HG01440,NA07347,NA11918,NA12006,NA12830,NA18511,NA18517,NA18595,NA18623,NA18861,NA18953,NA19114,NA19138,NA19147,NA19172,NA19359,NA19371,NA19374,NA19375,NA19379,NA19381,NA19385,NA19390,NA19391,NA19394,NA19397,NA19439,NA20294,NA20332,NA20502,NA20507,NA20527,NA20528 nsv509590 1 3743021 3819056 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623769 S 4 1 0 C1orf174,CEP104,DFFB,LOC100133612 NA18994 esv2730028 1 3748754 3749384 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 14 CEP104 SSM007,SSM009,SSM021,SSM022,SSM026,SSM027,SSM040,SSM045,SSM052,SSM057,SSM065,SSM078,SSM084,SSM085 esv1948239 1 3748871 3749215 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952306 S 1 0 1 CEP104 NA18507 esv1074506 1 3748997 3748997 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942170 S 2 1 0 CEP104 HuRef esv2730139 1 3750715 3751183 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 8 CEP104 SSM021,SSM022,SSM026,SSM029,SSM033,SSM040,SSM052,SSM087 esv2730250 1 3750840 3751027 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 CEP104 SSM022,SSM026,SSM033,SSM040,SSM087 nsv159844 1 3759905 3761262 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178422 M 24 CEP104 esv1467252 1 3785236 3785236 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229403 S 2 1 0 DFFB HuRef esv1008825 1 3790827 3790983 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 3790827 3790984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131794 S 2 0 1 DFFB HuRef esv992605 1 3790827 3791061 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 esv2730361 1 3790894 3791123 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 DFFB SSM009 esv2730472 1 3791293 3791555 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 DFFB SSM055 esv26417 1 3808437 3809202 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16927 S 451 2 0 C1orf174 NA19099,NA19225 esv2730584 1 3808476 3808764 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 C1orf174 SSM016 esv1352346 1 3808984 3809076 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067715 S 2 0 1 C1orf174 HuRef esv2730695 1 3811916 3812500 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 C1orf174 SSM012,SSM013,SSM017,SSM022,SSM024,SSM031 esv2730806 1 3812060 3812207 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 C1orf174 SSM012 nsv460172 1 4014091 4080780 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536774 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00586 nsv871603 1 4015382 4089613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543345 S 6533 0 1 "" MS16153 nsv870560 1 4017137 4128523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546437 S 6533 0 1 "" MS17208 nsv521 1 4043864 4048033 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1327 S 9 1 0 "" NA19240 esv26736 1 4044756 4045264 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11152 S 451 0 1 "" NA18916 esv2730917 1 4052259 4052643 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM003 esv2731028 1 4059442 4060195 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 48 "" SSM001,SSM007,SSM008,SSM009,SSM010,SSM015,SSM016,SSM021,SSM024,SSM026,SSM027,SSM028,SSM029,SSM032,SSM036,SSM037,SSM039,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM047,SSM049,SSM057,SSM059,SSM062,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM072,SSM073,SSM075,SSM076,SSM079,SSM082,SSM083,SSM084,SSM089,SSM091,SSM092,SSM095,SSM097 esv2731139 1 4059731 4059895 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM076,SSM097 esv1003004 1 4059827 4059944 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 4059835 4059953 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880229 S 2 0 1 "" HuRef nsv159163 1 4059836 4059953 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177741 M 24 "" esv2731250 1 4059885 4060042 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM097 nsv870482 1 4111187 4214031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522410 S 6533 0 1 "" SP53023 dgv115n71 1 4111187 4312205 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 4117554 4299727 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536884 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00817 nsv520675 1 4120311 4123099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697551 S 2026 0 1 "" esv2674556 1 4123545 4127892 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6498795,essv6405492,essv6417603,essv5398297 M 1151 0 4 "" HG01515,HG01516,HG01519,HG01522 esv21720 1 4123843 4127968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12064 S 451 0 3 "" NA12749,NA12878,NA19108 esv5203 1 4124544 4124998 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27644 S 1 0 1 Single Asian sample YH "" YH esv2731361 1 4125180 4126833 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 "" SSM005,SSM007,SSM010,SSM017,SSM072,SSM099 nsv511674 1 4125242 4125939 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626312 S 1 0 1 "" 1 esv1280652 1 4125335 4125432 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810874 S 2 0 1 "" HuRef dgv7e199 1 4125979 4126949 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2669579,esv2669964 M 1151 0 156 "" HG00111,HG00116,HG00117,HG00119,HG00120,HG00124,HG00145,HG00154,HG00159,HG00190,HG00245,HG00253,HG00258,HG00264,HG00265,HG00280,HG00284,HG00285,HG00306,HG00310,HG00313,HG00325,HG00367,HG00427,HG00436,HG00472,HG00500,HG00501,HG00524,HG00534,HG00536,HG00542,HG00590,HG00683,HG00702,HG00705,HG00707,HG00732,HG01047,HG01055,HG01070,HG01095,HG01168,HG01173,HG01187,HG01198,HG01342,HG01351,HG01353,HG01359,HG01374,HG01440,HG01456,HG01465,HG01494,HG01519,NA06984,NA06989,NA07048,NA11830,NA11831,NA11994,NA12003,NA12154,NA12155,NA12341,NA12342,NA12347,NA12348,NA12400,NA18487,NA18489,NA18533,NA18541,NA18542,NA18559,NA18560,NA18561,NA18565,NA18595,NA18620,NA18625,NA18856,NA18867,NA18874,NA18908,NA18942,NA18950,NA18952,NA18964,NA18977,NA18988,NA18999,NA19004,NA19005,NA19060,NA19065,NA19066,NA19067,NA19068,NA19092,NA19172,NA19189,NA19213,NA19235,NA19331,NA19347,NA19350,NA19355,NA19372,NA19393,NA19440,NA19461,NA19471,NA19651,NA19654,NA19655,NA19658,NA19681,NA19682,NA19684,NA19701,NA19713,NA19725,NA19729,NA19731,NA19747,NA19771,NA19777,NA19779,NA19780,NA19783,NA19835,NA19900,NA19901,NA19904,NA19917,NA19921,NA19982,NA20299,NA20322,NA20340,NA20541,NA20544,NA20582,NA20588,NA20757,NA20769,NA20787,NA20795,NA20800,NA20801,NA20802,NA20810,NA20814,NA20816 esv5764 1 4126190 4126790 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28205 S 1 0 1 "" SJK esv23365 1 4136993 4138968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13534,esv16191 M 451 0 13 "" NA12004,NA12006,NA12239,NA12287,NA12489,NA12828,NA18505,NA18858,NA18907,NA18909,NA18916,NA19099,NA19147 esv1000769 1 4137301 4137706 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 esv2731472 1 4137361 4137775 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 20 "" SSM007,SSM025,SSM027,SSM037,SSM039,SSM043,SSM044,SSM045,SSM046,SSM063,SSM065,SSM066,SSM069,SSM072,SSM080,SSM083,SSM084,SSM097,SSM098,SSM100 esv1100125 1 4137381 4137787 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668289 S 2 0 1 "" HuRef nsv821406 1 4137818 4138918 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420735 S 1 1 0 "" NA10851 esv1767486 1 4138561 4138561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227901 S 2 1 0 "" HuRef nsv509701 1 4142890 4219900 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619763 S 4 1 0 "" NA10860 esv2637444 1 4154509 4156134 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194644 S 1 0 1 "" NA18507 esv2259067 1 4154970 4155665 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563770 S 1 0 1 "" NA18507 esv3887 1 4155049 4155584 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26328 S 1 0 1 Single Asian sample YH "" YH esv2659809 1 4155146 4155460 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6496217,essv5515568,essv6490815,essv6087791,essv6567490,essv5721676,essv6159535,essv5667647,essv6593631,essv5984015,essv6241220,essv5778315,essv6443566,essv5525436,essv6477362,essv5525642,essv6168254,essv5764796,essv6267344,essv5527706,essv6145633,essv5530755,essv6440640,essv6089500,essv6301949,essv6001124,essv6433499,essv5958672,essv6470268,essv6000843,essv6426524,essv5537723,essv6438894,essv5539220,essv6376492,essv5828845,essv6315089,essv5539881,essv6213962,essv5735936,essv6584811,essv6088301,essv6370681,essv5915358,essv6272544,essv5960624,essv6454762,essv5927617,essv6148691,essv5544138,essv6389276,essv5544662,essv6568262,essv6011900,essv6181254,essv5545113,essv6195976,essv5546711,essv6225461,essv5551978,essv6285170,essv5795700,essv6155237,essv5552172,essv6327230,essv5552684,essv6472399,essv5553553,essv6329663,essv5554398,essv6518642,essv5554740,essv6256649,essv5718766,essv6543566,essv5555798,essv6358413,essv5906556,essv6339112,essv5557671,essv6571288,essv6048564,essv6449283,essv6108426,essv6263061,essv5966344,essv6587724,essv5561679,essv6494614,essv5563752,essv6255646,essv5564291,essv6541718,essv5676682,essv6485976,essv5568383,essv6199612,essv5570050,essv6159333,essv5570464,essv6371379,essv5574495,essv6328172,essv5942658,essv6472934,essv5576029,essv6233458,essv5580054,essv6355014,essv5580077,essv6143554,essv5929321,essv6431479,essv5581861,essv6237314,essv5584199,essv6281240,essv5584652,essv6172272,essv5797735,essv6489344,essv5586893,essv6248593,essv6132364,essv6257016,essv5779445,essv6593647,essv5591604,essv6365285,essv5591860,essv6466324,essv5999238,essv6455651,essv5592072,essv6512049,essv5593100,essv6539504,essv5593442,essv6455508,essv5595811,essv6409615,essv5596636,essv6534486,essv5596722,essv6499923,essv5935568,essv6344031,essv6086033,essv6198656,essv5601001,essv6568831,essv5996809,essv6228892,essv5765320,essv6265616,essv5950218,essv6595989,essv5814198,essv6343669,essv5610594,essv6249042,essv5953199,essv6213691,essv5613485,essv6274740,essv5613942,essv6489866,essv5779455,essv6243065,essv5986805,essv6364771,essv5948978,essv6524458,essv5618172,essv6297843,essv5619817,essv6533852,essv5619959,essv6553473,essv5907229,essv6358726,essv5797462,essv6239144,essv5810987,essv6582880,essv5624570,essv6178006,essv5625067,essv6281010,essv6010525,essv6521397,essv5625809,essv6421277,essv5626489,essv6254490,essv6099027,essv6176070,essv5956536,essv6260930,essv5632950,essv6222095,essv6050377,essv6534190,essv5669178,essv6317148,essv5633885,essv6579998,essv6025572,essv6260811,essv6003735,essv6231357,essv5731908,essv6390173,essv5995758,essv6484139,essv6086340,essv6196148,essv5638599,essv6161799,essv6042936,essv6227312,essv5936481,essv6207058,essv5642732,essv6299436,essv6069405,essv6563655,essv6003159,essv6315836,essv6134085,essv6211474,essv5645667,essv6162983,essv5645674,essv6242330,essv5645752,essv6395431,essv5888174,essv6397348,essv5649371,essv6455316,essv5649593,essv6343326,essv5969913,essv6305227,essv6118494,essv6451822,essv6003168,essv6337110,essv6011822,essv6510565,essv5655150,essv6442475,essv6009645,essv6337571,essv5792661,essv6301110,essv5656859,essv6253377,essv5814062,essv6316905,essv5657182,essv6335322,essv5794764,essv6284332,essv5657760,essv6361757,essv5659417,essv6494997,essv5738540,essv6593828,essv6062496,essv6457412,essv5662498,essv6271856,essv5662536,essv6236443,essv5769643,essv6385060,essv5914215,essv6421493,essv5763684,essv6228607,essv5922256,essv6260502,essv5836794,essv6190853,essv5671159,essv6209196,essv6082581,essv6414749,essv5811643,essv6313715,essv5675048,essv6149254,essv5908317,essv6199654,essv5718527,essv6589774,essv5743495,essv6503444,essv5906743,essv6211677,essv5891577,essv6174952,essv5982823,essv6268208,essv5937739,essv6448732,essv5964268,essv6194290,essv5689998,essv6420096,essv5928753,essv6445846,essv5693520,essv6482512,essv5918981,essv6535724,essv6040550,essv6541439,essv5878980,essv6329900,essv5881248,essv6282481,essv5987438,essv6203294,essv5709559,essv6414649,essv5949728,essv6219195,essv6026602,essv5787329,essv5835084,essv6004457,essv5722186,essv6009282,essv5907886,essv5933179,essv5988594,essv5989382,essv5735011,essv6028267,essv5766200,essv5835270,essv5931499,essv5738329,essv5975240,essv5883312,essv5814097,essv5971923,essv5934353,essv5744657,essv5745546,essv5790800,essv6079631,essv6121569,essv5674114,essv5710458,essv5796023,essv5840392,essv6009350,essv5829028,essv5738061,essv6051382,essv5769818,essv5795580,essv6010927,essv5742125,essv5697605,essv6001636,essv6123979,essv5825090,essv6036697,essv6038483,essv6034621,essv5815861,essv5822662,essv5799845,essv5782772,essv5400647,essv5711005,essv5404760,essv5409673,essv5824039,essv5828050,essv5412231,essv5851870,essv5700429,essv5850246,essv5416350,essv5851499,essv5416954,essv5417753,essv5420359,essv5849868,essv5423090,essv5423894,essv5849778,essv5849907,essv5851281,essv6045932,essv5425839,essv5425928,essv5692571,essv5690829,essv5695013,essv5859917,essv5429972,essv5432076,essv5860078,essv5857215,essv5434883,essv5860012,essv5436195,essv5436209,essv5436690,essv6123322,essv5854357,essv5690906,essv5439720,essv5440445,essv5440623,essv5444318,essv5444651,essv5864085,essv5445907,essv6060093,essv5447402,essv6088219,essv5742053,essv6109964,essv6112515,essv5864800,essv5864499,essv5862358,essv5454654,essv5455457,essv5872828,essv5869603,essv6116518,essv5679696,essv5460664,essv5460824,essv5461293,essv5462278,essv5745115,essv5462741,essv5874014,essv5463504,essv6100412,essv5871249,essv5467145,essv5468302,essv5759384,essv5472316,essv5473701,essv5474602,essv6026626,essv5934874,essv5480437,essv5683739,essv5481254,essv6069086,essv6069255,essv5487258,essv5764782,essv5891153,essv5488685,essv5488708,essv6101480,essv5490043,essv6028911,essv5491401,essv5492376,essv5493486,essv5493619,essv5733440,essv5495316,essv6120348,essv5931393,essv6092118,essv5716477,essv5949633,essv6040682,essv6054367,essv5924139,essv5502153,essv5838549,essv5754352,essv5507486,essv5507771,essv5510387,essv5958282,essv5513721,essv5514146,essv5514413 M 1151 0 497 "" HG00106,HG00108,HG00111,HG00117,HG00119,HG00124,HG00131,HG00136,HG00139,HG00140,HG00141,HG00142,HG00145,HG00149,HG00152,HG00158,HG00160,HG00177,HG00180,HG00182,HG00188,HG00237,HG00239,HG00246,HG00251,HG00253,HG00257,HG00263,HG00264,HG00265,HG00273,HG00275,HG00276,HG00278,HG00280,HG00282,HG00285,HG00306,HG00309,HG00319,HG00320,HG00324,HG00325,HG00326,HG00327,HG00328,HG00335,HG00337,HG00342,HG00343,HG00344,HG00345,HG00346,HG00353,HG00361,HG00377,HG00404,HG00421,HG00422,HG00428,HG00473,HG00475,HG00479,HG00500,HG00513,HG00533,HG00534,HG00536,HG00556,HG00559,HG00566,HG00578,HG00581,HG00583,HG00584,HG00589,HG00590,HG00595,HG00610,HG00611,HG00613,HG00619,HG00626,HG00634,HG00638,HG00640,HG00654,HG00656,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00704,HG00705,HG00708,HG00731,HG01047,HG01052,HG01060,HG01061,HG01069,HG01070,HG01072,HG01073,HG01080,HG01095,HG01098,HG01102,HG01107,HG01108,HG01112,HG01124,HG01133,HG01134,HG01136,HG01137,HG01140,HG01170,HG01171,HG01173,HG01174,HG01177,HG01183,HG01204,HG01250,HG01251,HG01253,HG01254,HG01334,HG01342,HG01350,HG01353,HG01354,HG01356,HG01357,HG01359,HG01360,HG01365,HG01366,HG01374,HG01375,HG01377,HG01378,HG01384,HG01437,HG01440,HG01441,HG01455,HG01461,HG01465,HG01488,HG01489,HG01491,HG01497,HG01498,HG01550,HG01551,NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA10851,NA11831,NA11843,NA11881,NA11892,NA11894,NA11919,NA11920,NA11931,NA11933,NA11994,NA11995,NA12003,NA12005,NA12046,NA12058,NA12154,NA12155,NA12273,NA12342,NA12383,NA12400,NA12414,NA12489,NA12748,NA12763,NA12775,NA12813,NA12827,NA12830,NA12891,NA12892,NA18486,NA18487,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18534,NA18536,NA18539,NA18544,NA18545,NA18547,NA18548,NA18549,NA18553,NA18558,NA18560,NA18563,NA18567,NA18570,NA18571,NA18572,NA18574,NA18577,NA18595,NA18596,NA18603,NA18608,NA18610,NA18613,NA18615,NA18619,NA18620,NA18621,NA18626,NA18633,NA18636,NA18853,NA18856,NA18858,NA18861,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18907,NA18908,NA18909,NA18910,NA18912,NA18916,NA18923,NA18924,NA18933,NA18934,NA18940,NA18941,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18950,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18963,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18980,NA18981,NA18982,NA18984,NA18985,NA18986,NA18987,NA18989,NA18990,NA19000,NA19003,NA19005,NA19007,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19076,NA19077,NA19078,NA19079,NA19080,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088,NA19092,NA19093,NA19098,NA19099,NA19102,NA19107,NA19108,NA19114,NA19116,NA19119,NA19129,NA19130,NA19131,NA19137,NA19138,NA19144,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19189,NA19190,NA19197,NA19198,NA19200,NA19201,NA19204,NA19207,NA19209,NA19210,NA19213,NA19225,NA19235,NA19238,NA19239,NA19240,NA19248,NA19256,NA19257,NA19311,NA19312,NA19318,NA19334,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19384,NA19385,NA19390,NA19391,NA19393,NA19396,NA19398,NA19401,NA19403,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19453,NA19455,NA19457,NA19462,NA19466,NA19467,NA19469,NA19470,NA19471,NA19472,NA19474,NA19625,NA19655,NA19660,NA19664,NA19670,NA19684,NA19685,NA19700,NA19703,NA19704,NA19707,NA19712,NA19729,NA19777,NA19779,NA19818,NA19819,NA19834,NA19835,NA19900,NA19901,NA19904,NA19909,NA19914,NA19916,NA19920,NA19985,NA20276,NA20281,NA20289,NA20332,NA20342,NA20503,NA20505,NA20509,NA20512,NA20513,NA20516,NA20519,NA20520,NA20521,NA20525,NA20533,NA20536,NA20537,NA20542,NA20581,NA20582,NA20586,NA20754,NA20759,NA20765,NA20771,NA20795,NA20798,NA20803,NA20804,NA20805,NA20808,NA20813,NA20815,NA20818,NA20819,NA20826 esv2731583 1 4155149 4155451 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 16 "" SSM005,SSM026,SSM027,SSM029,SSM034,SSM039,SSM041,SSM075,SSM076,SSM080,SSM081,SSM083,SSM087,SSM088,SSM089,SSM100 esv7346 1 4155163 4155463 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29787 S 1 0 1 "" SJK esv2731695 1 4189741 4190188 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM094 esv2731806 1 4196315 4196818 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 "" SSM019,SSM032,SSM035,SSM041,SSM045,SSM083 esv1112137 1 4196797 4196797 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248978 S 2 1 0 "" HuRef esv7714 1 4204501 4204569 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30155 S 1 1 0 "" SJK esv2619231 1 4204675 4204724 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231288 S 1 0 1 "" NA18507 nsv527177 1 4216862 4227094 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703573 S 2026 0 1 "" nsv871697 1 4227464 4300806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522411 S 6533 0 1 "" SP53023 nsv830536 1 4240010 4385181 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442018 S 95 1 0 "" nsv871218 1 4263997 4308283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517006 S 6533 0 1 "" SP57027 nsv830647 1 4277307 4447580 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442029 S 95 1 0 "" esv2731917 1 4280885 4281279 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 "" SSM033,SSM044,SSM053,SSM086,SSM087 dgv8e199 1 4284551 4285955 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2673458,esv2657756 M 1151 0 4 "" NA19238,NA19240,NA19704,NA19713 esv25427 1 4284635 4286005 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14207 S 451 0 1 "" NA19240 esv272116 1 4288427 4288772 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 4288428 4288773 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 4343948 4723046 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 4363044 4363044 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178226 M 24 "" esv2676117 1 4364476 4366851 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5633387 S 1151 0 1 "" HG00543 esv28339 1 4391581 4404275 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14362,esv19856,esv11599,esv17217,esv17261 M 451 9 24 "" NA06985,NA11894,NA11931,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18505,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2732028 1 4391861 4392350 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM037 nsv511131 1 4392511 4395812 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626587 S 1 0 1 "" 1 esv2505018 1 4396293 4397001 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228093 S 1 1 0 "" NA18507 esv1619694 1 4396588 4396588 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918928 S 2 1 0 "" HuRef esv2732139 1 4403400 4403964 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 "" SSM004,SSM013,SSM019,SSM026,SSM032 esv2732250 1 4403527 4403706 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM013,SSM032 esv275066 1 4421060 4424115 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585519 S 1250 0 1 "" esv2672854 1 4436053 4436357 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6000199,essv6139564,essv6465373 M 1151 0 3 "" HG00123,HG00257,HG01375 esv2732361 1 4441468 4441576 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM080 nsv830759 1 4447581 4669361 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442051,nssv1442040 M 95 0 2 LOC284661 esv2732472 1 4479740 4480741 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 17 LOC284661 SSM009,SSM017,SSM021,SSM025,SSM027,SSM030,SSM043,SSM047,SSM052,SSM053,SSM061,SSM066,SSM084,SSM086,SSM087,SSM088,SSM097 esv2732583 1 4480136 4480584 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 12 LOC284661 SSM009,SSM025,SSM027,SSM043,SSM047,SSM052,SSM066,SSM084,SSM086,SSM087,SSM088,SSM097 esv2213507 1 4480157 4480574 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764956 S 1 0 1 LOC284661 NA18507 esv2732694 1 4480265 4480403 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 LOC284661 SSM097 esv1543124 1 4480354 4480416 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354508 S 2 0 1 LOC284661 HuRef esv2732806 1 4487887 4488659 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 "" SSM004,SSM016,SSM021,SSM027,SSM050,SSM061,SSM093 esv2672972 1 4488122 4488222 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6043739,essv5837934,essv6054418,essv5592587,essv6116106,essv5614695,essv5978506,essv6538357,essv5714456,essv6573552,essv5685157,essv5769901 M 1151 0 12 "" HG00419,HG00500,HG00614,HG00701,NA18546,NA18611,NA18622,NA18947,NA18949,NA18951,NA18956,NA19385 esv2661002 1 4531112 4531246 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6134925,essv5772876,essv5966210 M 1151 0 3 "" HG01350,NA19403,NA19428 esv274284 1 4532014 4532239 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 4573989 4592116 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536980 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01098 esv2732917 1 4574954 4575444 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 "" SSM013,SSM023,SSM031,SSM068,SSM084,SSM091 nsv871602 1 4578495 4668670 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558401 S 6533 1 0 "" MS23257 esv2733028 1 4580502 4581246 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 "" SSM001,SSM007,SSM050,SSM059 esv2671580 1 4580844 4581049 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6587502,essv5521901,essv5533759,essv5562243,essv5930263,essv6099990,essv5764373,essv6208030,essv5590938,essv5731698,essv5922543,essv5666271,essv5638302,essv5976681,essv6246274,essv6482185,essv6231661,essv6062337,essv5661666,essv6229009,essv5874860,essv5992912,essv6002759,essv5972701,essv6368850,essv6037263,essv5403681,essv5407184,essv5422846,essv6521795,essv5859093,essv5862798,essv5865402,essv6374513,essv6104316,essv5720705,essv6299431,essv6257927,essv6096784,essv5483632,essv6266311,essv6538900,essv6363560,essv5710584,essv5501578,essv6366529,essv6569382 M 1151 0 47 "" HG00111,HG00237,HG00252,HG00254,HG00257,HG00271,HG00275,HG00276,HG00277,HG00281,HG00282,HG00284,HG00310,HG00313,HG00318,HG00319,HG00323,HG00328,HG00329,HG00334,HG00335,HG00337,HG00339,HG00343,HG00478,HG00534,HG00584,HG00619,HG01051,HG01066,HG01072,HG01107,HG01108,HG01174,HG01187,HG01334,HG01374,HG01440,NA18520,NA18534,NA18537,NA18599,NA18605,NA19379,NA19381,NA19394,NA20513 esv1006796 1 4596030 4602089 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 4597917 4603368 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13444 S 451 0 1 "" NA18861 esv2469165 1 4603290 4604366 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375102 S 1 1 0 "" NA18507 esv995887 1 4603762 4603762 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 4603782 4603782 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924372 S 2 1 0 "" HuRef nsv871520 1 4673937 4717391 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543346 S 6533 0 1 AJAP1 MS16153 esv2733139 1 4675972 4676889 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 "" SSM001,SSM006,SSM027,SSM078 esv2398993 1 4676313 4676822 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895725 S 1 0 1 "" NA18507 esv2658197 1 4676497 4676644 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6198829,essv6029957,essv6589744,essv5821408,essv6412559,essv5525380,essv6587508,essv5764573,essv6127008,essv5531218,essv6410115,essv5532520,essv6495919,essv5545152,essv6111236,essv5549301,essv6320726,essv5812387,essv6167600,essv5565994,essv6396763,essv5999686,essv6133000,essv5923630,essv6099242,essv6003061,essv6187654,essv5586772,essv6165117,essv5948491,essv6261916,essv5588715,essv6103413,essv5590110,essv6210893,essv6045522,essv6524956,essv5595406,essv6494304,essv5909082,essv6288614,essv5738365,essv6551775,essv6013490,essv6194615,essv5621909,essv6303440,essv5624213,essv6160512,essv5625990,essv6578430,essv6005288,essv6440247,essv5755317,essv6201371,essv5817691,essv6149495,essv5628346,essv6469110,essv5912276,essv6420799,essv5628805,essv6130018,essv5628898,essv6220185,essv5895546,essv6418000,essv5669835,essv6492515,essv5636975,essv6169913,essv5640486,essv6520463,essv5918827,essv6276284,essv5651641,essv6469647,essv5991829,essv6570959,essv5656641,essv6485722,essv6024062,essv6185984,essv5669101,essv6323215,essv5680392,essv6462194,essv5911545,essv6362493,essv5690863,essv6351731,essv5692595,essv6256947,essv5700422,essv6352455,essv5708378,essv6129356,essv5790060,essv6300955,essv5935021,essv6326323,essv5935035,essv6177835,essv5666262,essv6279379,essv5996438,essv6157654,essv5991881,essv6561280,essv5823142,essv6401699,essv5906173,essv6462347,essv6004021,essv6150504,essv5737114,essv6360320,essv5718450,essv6522193,essv5970293,essv6551957,essv5768132,essv6536116,essv5956711,essv6549251,essv5881960,essv6386889,essv6039205,essv6580955,essv6035492,essv6510967,essv5796451,essv6200790,essv6064479,essv6235618,essv5407800,essv6170218,essv5407868,essv6452512,essv5833924,essv6147526,essv5412484,essv6106046,essv5849873,essv6307983,essv5852026,essv6313667,essv5858536,essv6156671,essv5434102,essv6325599,essv5434110,essv6465232,essv5434435,essv6477773,essv5743042,essv6514653,essv6082959,essv5445628,essv5446984,essv5690322,essv5773359,essv5451670,essv5455064,essv5867660,essv5869103,essv5466375,essv5772039,essv5917912,essv5679766,essv6088752,essv5488638,essv5488930,essv5490017,essv5491259,essv5492548,essv5934882,essv5494920,essv6011694,essv5504528,essv5990605,essv6058464 M 1151 0 182 "" HG00114,HG00125,HG00136,HG00375,HG00421,HG00437,HG00442,HG00473,HG00475,HG00478,HG00512,HG00513,HG00524,HG00530,HG00534,HG00536,HG00583,HG00607,HG00608,HG00611,HG00614,HG00619,HG00620,HG00628,HG00637,HG00657,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00699,HG00705,HG00731,HG01066,HG01073,HG01083,HG01097,HG01171,HG01177,HG01354,HG01440,NA07051,NA12546,NA12889,NA12891,NA18486,NA18487,NA18488,NA18511,NA18517,NA18523,NA18526,NA18530,NA18532,NA18538,NA18541,NA18544,NA18545,NA18546,NA18547,NA18549,NA18552,NA18553,NA18559,NA18561,NA18563,NA18566,NA18571,NA18572,NA18573,NA18595,NA18596,NA18605,NA18610,NA18612,NA18613,NA18616,NA18620,NA18624,NA18628,NA18631,NA18632,NA18633,NA18637,NA18638,NA18867,NA18870,NA18874,NA18912,NA18933,NA18941,NA18944,NA18949,NA18951,NA18952,NA18953,NA18960,NA18961,NA18963,NA18968,NA18974,NA18977,NA18980,NA18985,NA18989,NA18991,NA19000,NA19002,NA19004,NA19007,NA19054,NA19055,NA19057,NA19065,NA19066,NA19068,NA19070,NA19077,NA19080,NA19082,NA19084,NA19085,NA19087,NA19088,NA19102,NA19107,NA19108,NA19116,NA19147,NA19189,NA19198,NA19207,NA19210,NA19213,NA19239,NA19240,NA19312,NA19315,NA19318,NA19319,NA19324,NA19331,NA19334,NA19346,NA19347,NA19359,NA19374,NA19375,NA19379,NA19380,NA19381,NA19382,NA19383,NA19391,NA19428,NA19431,NA19434,NA19439,NA19453,NA19455,NA19462,NA19471,NA19473,NA19625,NA19712,NA19722,NA19818,NA19834,NA19982,NA19985,NA20278,NA20282,NA20287,NA20502,NA20505,NA20528,NA20544,NA20581,NA20819 esv2733250 1 4692393 4692873 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 12 "" SSM013,SSM028,SSM031,SSM037,SSM067,SSM068,SSM069,SSM070,SSM071,SSM081,SSM083,SSM089 esv2733361 1 4692578 4692743 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM070 esv2733472 1 4692721 4693107 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM046,SSM067 dgv11e201 1 4692895 4693546 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2733805,esv2733583 M 96 0 11 "" SSM013,SSM016,SSM028,SSM043,SSM044,SSM045,SSM067,SSM072,SSM077,SSM083,SSM098 esv2733694 1 4692904 4693083 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM067 esv2733917 1 4709123 4709933 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 18 "" SSM003,SSM006,SSM009,SSM012,SSM018,SSM019,SSM021,SSM025,SSM026,SSM027,SSM033,SSM047,SSM068,SSM072,SSM073,SSM077,SSM083,SSM087 esv2734028 1 4709203 4709384 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM026,SSM068 esv2734139 1 4709481 4709868 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 "" SSM027,SSM033,SSM072,SSM073,SSM077 nsv825475 1 4713119 4717435 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433404 S 31 1 0 AJAP1 NA18526 esv2734250 1 4726432 4726992 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 16 AJAP1 SSM003,SSM008,SSM017,SSM019,SSM026,SSM028,SSM031,SSM033,SSM036,SSM040,SSM044,SSM066,SSM080,SSM082,SSM083,SSM096 esv2734361 1 4726579 4726802 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 8 AJAP1 SSM019,SSM026,SSM031,SSM036,SSM040,SSM044,SSM082,SSM096 nsv871046 1 4734514 4763401 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 4734774 4738126 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 4737531 4754057 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537066 S 1557 0 1 AJAP1 1780862093_A nsv520031 1 4747737 4751030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701964,nssv660165,nssv683157 M 2026 0 3 AJAP1 nsv521535 1 4747737 4772717 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694458 S 2026 0 1 AJAP1 nsv460617 1 4751030 4787119 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537158 S 1557 0 1 AJAP1 NINDS_66 nsv830870 1 4795386 4981299 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442062 S 95 0 1 AJAP1 esv2651800 1 4800146 4801190 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191133 S 1 1 0 AJAP1 NA18507 nsv830981 1 4822265 4998251 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442074 S 95 1 0 AJAP1 nsv870493 1 4861160 4894800 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533734 S 6533 0 1 "" MS11306 nsv521327 1 4872571 4874505 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697933 S 2026 0 1 "" dgv9e199 1 4882138 4883038 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2658527,esv2662806 M 1151 0 6 "" HG00150,HG00251,HG00256,HG00418,NA18990,NA19003 esv2734472 1 4882352 4883088 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 5 "" SSM005,SSM022,SSM057,SSM059,SSM099 nsv632 1 4909413 4913572 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2960 S 9 1 0 "" NA18555 dgv10e199 1 5028103 5056368 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2659456,esv2674284 M 1151 0 1 "" NA19473 nsv521101 1 5031379 5054350 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687649,nssv682279 M 2026 0 2 "" esv2483299 1 5053352 5054468 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225073 S 1 0 1 "" NA18507 nsv525603 1 5068210 5068955 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701747 S 2026 0 1 "" esv271127 1 5089997 5090159 CNV Insertion 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 5104037 5181615 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870687,nsv870969 M 6533 4 0 "" IS33850,MS20009,MS21515,SP56248 nsv523740 1 5113911 5170712 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699556 S 2026 1 0 "" nsv460839 1 5113911 5173804 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537339 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00529 esv32797 1 5127270 5168845 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101012 S 51 0 1 "" 21693 esv1109223 1 5135781 5135781 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4201133 S 2 1 0 "" HuRef nsv520723 1 5151245 5164424 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697576 S 2026 1 0 "" esv2675761 1 5163634 5165134 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6419459 S 1151 0 1 "" HG00692 esv2532762 1 5172047 5172764 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197882 S 1 1 0 "" NA18507 esv2657993 1 5172334 5173571 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5720924,essv6291611 M 1151 0 2 "" HG00611,HG00654 esv1289856 1 5172490 5172490 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3630167 S 2 1 0 "" HuRef esv2734583 1 5172684 5173526 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 "" SSM012,SSM020,SSM027,SSM033,SSM036,SSM047,SSM053 esv2464561 1 5180854 5180930 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250667 S 1 0 1 "" NA18507 esv27138 1 5196671 5197414 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13523 S 451 0 1 "" NA19240 esv2465114 1 5220151 5220896 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290540 S 1 1 0 "" NA18507 esv2918 1 5220261 5220607 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25359 S 1 0 1 Single Asian sample YH "" YH esv2734694 1 5258968 5259353 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 "" SSM018,SSM032,SSM036,SSM067 esv2734805 1 5259135 5259325 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM032,SSM036 nsv521242 1 5283942 5287108 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697864 S 2026 0 1 "" dgv14e1 1 5289767 5536678 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2534,esv329 M 271 0 0 "" NA19003 nsv870776 1 5299059 5320534 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540994 S 6533 0 1 "" MS15145 esv2656583 1 5302112 5304560 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5642149,essv5836252 M 1151 0 2 "" NA19452,NA19461 esv2734916 1 5305983 5306480 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 19 "" SSM011,SSM013,SSM016,SSM017,SSM020,SSM022,SSM023,SSM024,SSM045,SSM065,SSM067,SSM069,SSM070,SSM080,SSM081,SSM084,SSM086,SSM087,SSM098 esv1963263 1 5306024 5306450 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703012 S 1 0 1 "" NA18507 esv2735028 1 5306141 5306241 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM011,SSM087 esv2735139 1 5306703 5306913 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM022 nsv460950 1 5330757 5348270 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537425 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00998 esv2735250 1 5350669 5351173 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 7 "" SSM013,SSM021,SSM024,SSM065,SSM077,SSM080,SSM091 esv2735361 1 5350842 5350939 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM080 esv2671665 1 5350910 5351276 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6492274,essv6328526,essv6540368,essv6296706,essv5996842,essv6052126,essv5659484,essv5800925,essv6509635,essv5779798,essv6246074,essv5856400,essv5440076 M 1151 0 13 "" HG00160,HG00278,HG00280,HG00375,HG00731,HG01551,NA12155,NA12282,NA12892,NA19663,NA19703,NA19749,NA20507 esv2663969 1 5359279 5362135 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6181377,essv5526874,essv5404073,essv5861421,essv5451969 M 1151 0 5 "" HG00638,NA18856,NA19319,NA19451,NA19472 esv2735472 1 5363902 5364440 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 15 "" SSM007,SSM014,SSM015,SSM027,SSM032,SSM033,SSM049,SSM059,SSM061,SSM070,SSM078,SSM086,SSM087,SSM088,SSM089 esv2675805 1 5364059 5364212 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5535297,essv6515529,essv6015776,essv6048366,essv5564616,essv5816756,essv6010416,essv6431643,essv6402807,essv6328751,essv6108303,essv6289486,essv6100647,essv5932932,essv5620206,essv5891462,essv6459561,essv5628770,essv5631414,essv5640185,essv5668653,essv5904658,essv6097545,essv5920700,essv6364649,essv6021653,essv6003274,essv5950071,essv6038176,essv6312434,essv5395854,essv5400386,essv6276849,essv6209727,essv5716908,essv5416167,essv5745198,essv5723271,essv5856831,essv5437083,essv5691159,essv5866775,essv5454067,essv6078532,essv6374400,essv6352895,essv5487076,essv5488147,essv6396847,essv5495326,essv6368144,essv6017677,essv5510135,essv6135067 M 1151 0 54 "" HG00111,HG00137,HG00139,HG00140,HG00252,HG00253,HG00271,HG00275,HG00281,HG00282,HG00310,HG00313,HG00320,HG00321,HG00330,HG00337,HG00338,HG00339,HG00437,HG00442,HG00473,HG00475,HG00476,HG00500,HG00513,HG00543,HG00556,HG00584,HG00590,HG00619,HG00650,HG00692,HG00698,HG00699,HG00701,HG00705,HG01070,HG01075,HG01083,HG01173,HG01174,HG01334,NA18530,NA18557,NA18559,NA18611,NA18612,NA18613,NA18620,NA18622,NA18632,NA18636,NA19404,NA19920 esv2735583 1 5364148 5364245 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 "" SSM014,SSM032,SSM078 nsv10605 1 5393590 5395013 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 esv2735694 1 5393775 5394938 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 71 "" SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM009,SSM012,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM031,SSM033,SSM034,SSM036,SSM037,SSM038,SSM040,SSM042,SSM043,SSM044,SSM045,SSM047,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM058,SSM061,SSM062,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM072,SSM073,SSM075,SSM076,SSM077,SSM078,SSM079,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM088,SSM091,SSM092,SSM093,SSM096,SSM098,SSM099,SSM100 esv2677954 1 5403415 5404684 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5814474 S 1151 0 1 "" NA19703 esv2735805 1 5473927 5474464 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 13 "" SSM004,SSM007,SSM015,SSM020,SSM022,SSM036,SSM040,SSM068,SSM070,SSM071,SSM074,SSM080,SSM089 esv2259894 1 5474029 5474457 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831068 S 1 0 1 "" NA18507 nsv160607 1 5474168 5474241 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179185 M 24 "" esv1028089 1 5474230 5474305 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224996 S 2 0 1 "" HuRef nsv10716 1 5475030 5476810 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26903 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv831092 1 5493368 5643744 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442085 S 95 1 0 MIR4417 esv2735916 1 5559426 5559623 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM013 esv2607553 1 5559509 5559610 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236789 S 1 0 1 "" NA18507 nsv527712 1 5623683 5625566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704192 S 2026 0 1 MIR4417 dgv2n21 1 5624529 5625566 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519513,nsv526005 M 2026 0 4 "" nsv871264 1 5627912 5643758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503204 S 6533 0 1 "" SP52003 esv2669319 1 5633688 5633986 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6496995,essv5928382,essv6452914,essv5826814,essv5560026,essv6506229,essv5587877,essv6476038,essv5603993,essv5607342,essv5608106,essv5889786,essv5636736,essv6305492,essv6334378,essv6234181,essv6498314,essv6463945,essv6036715,essv6208210,essv5399348,essv5400393,essv6173891,essv6346612,essv6355678,essv5453155,essv5478691,essv5483457,essv6410575,essv6149955,essv6429604 M 1151 0 31 "" HG00329,HG00375,HG00501,HG00524,HG01440,NA07051,NA11993,NA12004,NA12044,NA12749,NA12750,NA12813,NA12828,NA18486,NA18523,NA18558,NA18853,NA18916,NA18956,NA18967,NA18972,NA18975,NA19098,NA19171,NA19312,NA19373,NA19374,NA19397,NA19463,NA19625,NA19818 esv2673462 1 5644646 5645443 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6161251,essv6139149,essv6576477 M 1151 0 3 "" NA19380,NA19382,NA19436 esv1008325 1 5653349 5653349 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 5653350 5653350 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729262 S 2 1 0 "" HuRef esv2165265 1 5663223 5663590 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4655011 S 1 0 1 "" NA18507 esv2622825 1 5663834 5663894 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341576 S 1 0 1 "" NA18507 esv2736027 1 5693927 5694155 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 "" SSM046,SSM088,SSM098 esv2736140 1 5715844 5715956 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6707250,essv6906088,essv6675186 M 96 0 3 "" SSM014,SSM032,SSM041 esv2674386 1 5727693 5727959 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6566648,essv5549176,essv5786001,essv6213259,essv5571822,essv5574275,essv6122182,essv5738482,essv6129857,essv5972280,essv6301555,essv5613090,essv6190723,essv6060968,essv6221620,essv6148778,essv5935278,essv5665252,essv5898834,essv5932568,essv6212200,essv5927529,essv6294299,essv6509161,essv6384104,essv5768514,essv5411958,essv5418071,essv5850151,essv6384347,essv5692394,essv6310515,essv6326712,essv6108169,essv5489756,essv5790903,essv6020750,essv5499783,essv6356112,essv5504297,essv5832322,essv6565812,essv5667480 M 1151 0 43 "" HG00251,HG00418,HG00422,HG00427,HG00428,HG00437,HG00448,HG00463,HG00500,HG00534,HG00657,HG00684,HG00689,HG00690,HG00698,HG00701,HG00702,HG00705,HG00708,HG01108,NA18519,NA18549,NA18557,NA18592,NA18636,NA18637,NA18917,NA18945,NA18960,NA19225,NA19359,NA19371,NA19374,NA19377,NA19380,NA19382,NA19384,NA19385,NA19463,NA19703,NA20299,NA20317,NA20322 dgv12e201 1 5727728 5728179 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2736251,esv2736473 M 96 0 9 "" SSM026,SSM029,SSM034,SSM075,SSM078,SSM088,SSM089,SSM097,SSM098 esv2736362 1 5727732 5727890 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972305,essv6816567,essv6859167 M 96 0 3 "" SSM029,SSM078,SSM088 esv2736584 1 5727967 5728353 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6888992 S 96 0 1 "" SSM097 esv2474640 1 5731828 5734689 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304912 S 1 1 0 "" NA18507 nsv871747 1 5749083 5823369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537045 S 6533 0 1 "" MS13095 nsv523099 1 5758772 5765353 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698792 S 2026 1 0 "" esv2736695 1 5761484 5761660 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6892304 S 96 0 1 "" SSM098 esv2662153 1 5766984 5767216 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6320453,essv5689657,essv6036122 M 1151 0 3 "" NA19372,NA19399,NA20340 nsv521706 1 5790498 5790655 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698329 S 2026 1 0 "" esv2736806 1 5796228 5796823 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6679146,essv6725837,essv6703847,essv6843732 M 96 0 4 "" SSM011,SSM033,SSM040,SSM046 esv2736917 1 5796331 5796449 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6843732 S 96 0 1 "" SSM011 esv2737028 1 5796331 5796639 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6725837,essv6703847,essv6843732 M 96 0 3 "" SSM011,SSM040,SSM046 esv2165525 1 5804042 5804503 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933008 S 1 0 1 "" NA18507 esv2737139 1 5804090 5804332 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6686143,essv6895833 M 96 0 2 "" SSM035,SSM099 nsv470688 1 5811124 5913621 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547687,nssv547688 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00546,HGDP00550 nsv508723 1 5837275 6032008 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 esv2737251 1 5855952 5856170 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836177,essv6668917,essv6921698,essv6832584,essv6917408,essv6828989,essv6843870,essv6776920 M 96 0 8 "" SSM017,SSM018,SSM031,SSM067,SSM081,SSM082,SSM083,SSM085 esv2444036 1 5862653 5863401 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245268 S 1 1 0 "" NA18507 esv2659247 1 5869340 5869558 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6417879,essv5930468,essv6465745,essv5527474,essv6263918,essv5530077,essv6146613,essv6075485,essv6374721,essv6011891,essv6518158,essv6045833,essv6556647,essv5544803,essv6198412,essv6106470,essv6549217,essv5745359,essv6335616,essv5554352,essv6393188,essv5905111,essv6166486,essv5732112,essv6236574,essv5557873,essv6492365,essv5559934,essv6587858,essv5839935,essv6387750,essv6000861,essv6291960,essv5668045,essv6394450,essv5572813,essv6268734,essv5580177,essv6594867,essv5580254,essv6270096,essv5753693,essv6404529,essv5586732,essv6245044,essv6094353,essv6323533,essv5592554,essv6137578,essv6066661,essv6582137,essv5729154,essv6444493,essv5594926,essv6196076,essv5595470,essv6144072,essv5596387,essv6360109,essv5826381,essv6142082,essv5914664,essv6309709,essv6072153,essv6486815,essv5601497,essv6391420,essv6023402,essv6543831,essv5610805,essv6265953,essv5612808,essv6174141,essv6090069,essv6564734,essv6067888,essv6235548,essv5618174,essv6369064,essv5791740,essv6420906,essv5836217,essv6479997,essv5624910,essv6391005,essv5630462,essv6440560,essv5630584,essv6278486,essv5631474,essv6330278,essv5797925,essv6378969,essv5635226,essv6189773,essv5635426,essv6482724,essv5934675,essv6594372,essv6053442,essv6266718,essv5637654,essv6125751,essv5937931,essv6189034,essv6072796,essv6592924,essv5966889,essv6478707,essv6096512,essv6303300,essv6111972,essv6285635,essv5650758,essv6200594,essv5659979,essv6276782,essv5660082,essv6508257,essv5662055,essv6558526,essv5662477,essv6300778,essv5808919,essv6477225,essv6123735,essv6406075,essv5665492,essv6344090,essv5968327,essv6493709,essv6094768,essv6388559,essv6021599,essv6125527,essv5678721,essv6392803,essv5679057,essv6383400,essv5813827,essv6342193,essv5795745,essv6444738,essv6040793,essv6389765,essv5899676,essv6183284,essv5892249,essv6138525,essv5885870,essv6273426,essv5704918,essv6139291,essv5934148,essv6246524,essv6006918,essv6202614,essv5714010,essv6505625,essv6021243,essv6234994,essv5844994,essv6375911,essv6107151,essv6334106,essv6108729,essv6237537,essv5971857,essv6363014,essv5713476,essv6481719,essv6020011,essv6558821,essv5793845,essv6287356,essv5733018,essv6224977,essv6022244,essv6372706,essv6109050,essv6244996,essv5790012,essv6288594,essv5894682,essv6137619,essv5699105,essv6451164,essv5963404,essv6574311,essv6021408,essv6385332,essv5997187,essv6192872,essv5399605,essv6563797,essv5400301,essv6471952,essv5403979,essv6320485,essv5404710,essv6318232,essv5406603,essv6217808,essv5407382,essv6555572,essv5843991,essv6348497,essv5411190,essv6171323,essv5853215,essv6420973,essv5414371,essv6166775,essv5760897,essv6375852,essv5415067,essv6178429,essv5849894,essv6190114,essv5422692,essv6144564,essv5427209,essv6501693,essv5695467,essv6263762,essv6110710,essv6189820,essv5858332,essv6427748,essv5438361,essv6391714,essv5438706,essv6416691,essv5440563,essv6481508,essv5441847,essv6137882,essv5724237,essv5861818,essv5694052,essv5450047,essv6120847,essv5453731,essv5462412,essv5467941,essv6080470,essv5476553,essv5681547,essv6080301,essv5477693,essv5937573,essv5484012,essv5484342,essv5485167,essv5744973,essv5495816,essv5735340,essv5497528,essv5502312,essv5505041,essv5507567,essv5908603,essv5752258,essv6086130,essv6096805 M 1151 0 265 "" HG00096,HG00114,HG00119,HG00120,HG00125,HG00137,HG00146,HG00149,HG00182,HG00188,HG00189,HG00233,HG00242,HG00244,HG00253,HG00254,HG00256,HG00265,HG00269,HG00271,HG00273,HG00284,HG00306,HG00308,HG00320,HG00327,HG00339,HG00343,HG00369,HG00372,HG00373,HG00418,HG00427,HG00442,HG00448,HG00475,HG00512,HG00524,HG00537,HG00551,HG00557,HG00565,HG00581,HG00608,HG00614,HG00626,HG00629,HG00635,HG00651,HG00657,HG00662,HG00689,HG00690,HG00692,HG00693,HG00701,HG00705,HG00707,HG00731,HG00732,HG00737,HG01048,HG01066,HG01067,HG01072,HG01073,HG01098,HG01101,HG01112,HG01124,HG01148,HG01149,HG01254,HG01334,HG01342,HG01357,HG01375,HG01389,HG01461,HG01465,HG01489,HG01497,NA07048,NA07051,NA07056,NA11830,NA11892,NA11893,NA11994,NA12003,NA12045,NA12046,NA12286,NA12340,NA12347,NA12383,NA12413,NA12546,NA12718,NA12748,NA12750,NA12775,NA12777,NA12778,NA12827,NA12829,NA12842,NA12889,NA18486,NA18487,NA18499,NA18516,NA18534,NA18538,NA18543,NA18544,NA18549,NA18553,NA18557,NA18564,NA18567,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18606,NA18610,NA18614,NA18616,NA18617,NA18620,NA18624,NA18633,NA18635,NA18638,NA18868,NA18940,NA18949,NA18950,NA18960,NA18963,NA18964,NA18982,NA18988,NA18991,NA18999,NA19004,NA19009,NA19010,NA19062,NA19074,NA19075,NA19077,NA19078,NA19079,NA19083,NA19085,NA19088,NA19102,NA19107,NA19130,NA19189,NA19198,NA19256,NA19313,NA19316,NA19319,NA19327,NA19328,NA19331,NA19350,NA19360,NA19373,NA19374,NA19377,NA19379,NA19380,NA19384,NA19394,NA19397,NA19401,NA19431,NA19434,NA19436,NA19438,NA19439,NA19440,NA19443,NA19445,NA19453,NA19455,NA19461,NA19462,NA19466,NA19470,NA19474,NA19657,NA19658,NA19716,NA19719,NA19722,NA19723,NA19749,NA19774,NA19780,NA19786,NA19819,NA19904,NA19920,NA20127,NA20282,NA20296,NA20332,NA20334,NA20344,NA20348,NA20506,NA20514,NA20516,NA20521,NA20533,NA20535,NA20540,NA20544,NA20581,NA20585,NA20757,NA20760,NA20769,NA20770,NA20771,NA20773,NA20774,NA20783,NA20785,NA20787,NA20790,NA20792,NA20795,NA20797,NA20798,NA20800,NA20801,NA20804,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20814,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828 esv2487333 1 5869360 5869500 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391968 S 1 0 1 "" NA18507 esv2737362 1 5869423 5869682 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6877659,essv6874689 M 96 0 2 "" SSM092,SSM093 esv28776 1 5876593 5878094 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16704,esv10860,esv18182 M 451 0 7 "" NA07045,NA12006,NA12489,NA12878,NA18508,NA18523,NA19147 esv2737473 1 5876982 5877388 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6725838,essv6821161,essv6941765,essv6950533,essv6972307,essv6689249,essv6710564 M 96 0 7 "" SSM023,SSM025,SSM029,SSM036,SSM042,SSM046,SSM079 nsv871294 1 5887140 5944721 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 5890090 6027962 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 5892204 5892639 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176671 S 1 1 0 "" NA18507 nsv512712 1 5892315 5892438 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625336 S 1 1 0 "" 1 esv1660216 1 5892367 5892367 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159802 S 2 1 0 "" HuRef nsv871389 1 5903233 5934236 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 5906337 5913621 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695820 S 2026 1 0 "" nsv871082 1 5906337 6245143 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 5913621 6000129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532359 S 6533 0 1 MIR4689,NPHP4 MS10769 esv2737584 1 5925252 5925705 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6821162,essv6721990,essv6828990,essv6843743 M 96 0 4 NPHP4 SSM011,SSM045,SSM079,SSM081 esv2737695 1 5925381 5925493 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6843743 S 96 0 1 NPHP4 SSM011 esv2737806 1 5928847 5929509 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6937658,essv6669099 M 96 0 2 NPHP4 SSM005,SSM022 nsv825586 1 5933761 5934633 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423942 S 31 0 1 NPHP4 NA18582 esv267940 1 5934269 5934568 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 5934274 5934563 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 esv2737917 1 5944485 5944703 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6679147,essv6902515,essv6766527,essv6910022,essv6668918,essv6692746,essv6846990,essv6950534,essv6892305,essv6839956,essv6913982,essv6871702,essv6776922,essv6718151,essv6789130,essv6853210,essv6946477 M 96 0 17 NPHP4 SSM013,SSM015,SSM016,SSM024,SSM025,SSM031,SSM033,SSM037,SSM044,SSM064,SSM067,SSM070,SSM084,SSM086,SSM087,SSM091,SSM098 nsv831314 1 5949469 6123057 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 5962129 6007387 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9178 S 9 0 1 NPHP4 NA12156 nsv870809 1 6000129 6088364 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 6035606 6041606 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623262 S 4 1 0 NPHP4 NA18994 esv33437 1 6037569 6038037 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101160,essv101040,essv94798,essv94307,essv97813,essv95744,essv93021,essv94480,essv92840,essv97100,essv93510,essv92517,essv99200,essv100607 M 51 14 0 NPHP4 21618,21693,21791,21808,21837,21841,21863,21932,21939,22075,22128,22233,22275,22298 nsv520207 1 6042934 6046264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697281 S 2026 0 1 NPHP4 nsv871226 1 6046264 6212870 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 6064711 6066988 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382298 S 1 0 1 KCNAB2 NA18507 esv22772 1 6064750 6066933 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19261,esv17376,esv15196 M 451 27 1 KCNAB2 NA06985,NA07037,NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12287,NA12414,NA12749,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240 esv2738028 1 6064778 6065911 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972308,essv6686144,essv6668919,essv6821163,essv6941766,essv6846991,essv6733470,essv6721991,essv6898594,essv6906089,essv6843871,essv6789131,essv6954715,essv6738796,essv6816568,essv6863937,essv6853211,essv6961533 M 96 0 18 KCNAB2 SSM014,SSM023,SSM026,SSM027,SSM029,SSM031,SSM035,SSM045,SSM049,SSM052,SSM070,SSM078,SSM079,SSM085,SSM086,SSM087,SSM089,SSM100 nsv159264 1 6065293 6065490 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177842 M 24 KCNAB2 nsv511675 1 6065857 6066800 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626313 S 1 0 1 KCNAB2 1 esv2738139 1 6065880 6066099 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6718787 S 96 0 1 KCNAB2 SSM007 esv2738250 1 6065929 6066616 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836178,essv6679148,essv6895834,essv6769505,essv6910023,essv6773422,essv6725839,essv6921699,essv6941767,essv6797433,essv6666885,essv6824966,essv6807360,essv6780849,essv6839957,essv6913984,essv6913983,essv6950073,essv6954716,essv6843872,essv6789133,essv6967912,essv6929045,essv6863938,essv6714226,essv6853212,essv6696980,essv6793267 M 96 0 27 KCNAB2 SSM004,SSM015,SSM016,SSM018,SSM020,SSM023,SSM026,SSM028,SSM030,SSM033,SSM038,SSM043,SSM046,SSM065,SSM066,SSM068,SSM070,SSM071,SSM072,SSM075,SSM080,SSM083,SSM084,SSM085,SSM087,SSM089,SSM099 esv7234 1 6065971 6066419 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29675 S 1 0 1 KCNAB2 SJK nsv511127 1 6066099 6070870 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626143 S 1 0 1 KCNAB2 1 esv2738362 1 6066454 6066621 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972309 S 96 0 1 KCNAB2 SSM029 esv2738473 1 6066728 6066907 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6813156 S 96 0 1 KCNAB2 SSM077 esv2738584 1 6072125 6072956 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6885973,essv6668920,essv6846992,essv6703848,essv6733471,essv6933292,essv6784978,essv6776923,essv6972310 M 96 0 9 KCNAB2 SSM021,SSM029,SSM031,SSM040,SSM049,SSM067,SSM069,SSM086,SSM096 esv2668412 1 6072194 6072560 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6501198,essv5520884,essv6544636,essv5528295,essv5922487,essv5563282,essv5877569,essv5588220,essv6335002,essv6188297,essv5636685,essv5886683,essv6129318,essv5695092,essv6255474,essv5865050,essv6237773 M 1151 0 17 KCNAB2 HG00284,HG00328,HG00342,HG00437,HG00543,HG01133,HG01357,HG01390,NA18572,NA18924,NA19374,NA19379,NA19391,NA19428,NA19746,NA19786,NA20314 esv2671721 1 6072195 6072792 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6223880,essv6106545,essv5730880,essv5531345,essv6265889,essv6508076,essv6129056,essv6282381,essv5545770,essv6157504,essv5740671,essv5997402,essv6498118,essv5552528,essv6148521,essv6334902,essv5884490,essv5558169,essv6060604,essv6548910,essv6427608,essv6592445,essv6513052,essv5880362,essv6040350,essv5569094,essv5788028,essv6585620,essv6107623,essv5724721,essv6490716,essv5575680,essv5842204,essv5837146,essv6168202,essv6081217,essv6501200,essv5587867,essv6169655,essv5909974,essv5909976,essv6259723,essv6255955,essv6200679,essv6480699,essv5742080,essv6165747,essv6506890,essv5757120,essv5605963,essv5753506,essv5996087,essv6465287,essv5611477,essv5613898,essv6088037,essv5752732,essv6165749,essv5673767,essv5616878,essv5617025,essv5829542,essv5617548,essv6126277,essv5621908,essv6448961,essv5928633,essv6502693,essv6195668,essv6138404,essv6376345,essv5632013,essv5881206,essv5633336,essv5636110,essv6397638,essv5637574,essv5930850,essv6345185,essv5843395,essv5645205,essv5645214,essv6573525,essv5746389,essv6008020,essv6113253,essv5907730,essv5655454,essv6594356,essv5657029,essv6464469,essv6532235,essv6139989,essv6062214,essv6491505,essv6588591,essv5932588,essv6187079,essv5978133,essv5918927,essv6216628,essv6072530,essv6146458,essv6073435,essv5971083,essv5889228,essv6020546,essv6057781,essv6372612,essv6068361,essv6121818,essv5965967,essv6128759,essv6103095,essv5995311,essv6433245,essv6380438,essv5714136,essv6397243,essv6118327,essv6336381,essv5669584,essv6114052,essv6103012,essv6020623,essv6452048,essv6551773,essv6142865,essv6206244,essv6223863,essv6567015,essv6447871,essv5800765,essv5674310,essv6473009,essv5941011,essv5665100,essv6094817,essv6493493,essv5836894,essv6497354,essv6086953,essv5677246,essv6297003,essv6505577,essv5845916,essv6080909,essv6192880,essv6229880,essv6541060,essv6112224,essv5396217,essv5845242,essv5402443,essv5402741,essv6492760,essv5406403,essv5407413,essv5407886,essv6304897,essv6437441,essv5764384,essv6204063,essv5413546,essv5705359,essv5707787,essv5415000,essv5415051,essv5774618,essv5416587,essv6377173,essv5767011,essv6393423,essv5424572,essv6248870,essv5425976,essv5428863,essv6217674,essv5432446,essv6119926,essv6227383,essv6282855,essv5445107,essv5864460,essv6376855,essv6529368,essv6139787,essv6416025,essv5691431,essv5453827,essv5454081,essv5679535,essv5871453,essv6439716,essv5459906,essv6261806,essv5460614,essv6580197,essv6429236,essv6349389,essv6297659,essv5467304,essv6540799,essv5469579,essv5943253,essv5474452,essv5474868,essv6141669,essv6371370,essv5475755,essv6061149,essv6553754,essv6155134,essv6429959,essv6210340,essv6164111,essv5883448,essv6072292,essv6148472,essv5489757,essv6261835,essv6382629,essv6055531,essv6586272,essv5497657,essv6514803,essv6442096,essv5788966,essv6269635,essv6409198,essv6361399,essv6298507,essv5714321,essv6482164,essv5506435,essv5998533,essv5509769,essv5958284,essv6556052,essv5512966,essv5946793,essv5983105,essv6399264,essv5513983 M 1151 0 244 KCNAB2 HG00108,HG00111,HG00123,HG00124,HG00125,HG00131,HG00136,HG00137,HG00138,HG00139,HG00140,HG00142,HG00154,HG00232,HG00236,HG00237,HG00246,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00260,HG00261,HG00271,HG00272,HG00273,HG00274,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00309,HG00310,HG00313,HG00315,HG00318,HG00319,HG00320,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00330,HG00334,HG00335,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00345,HG00346,HG00375,HG00418,HG00427,HG00428,HG00436,HG00437,HG00443,HG00449,HG00463,HG00464,HG00473,HG00479,HG00500,HG00501,HG00512,HG00513,HG00525,HG00533,HG00534,HG00537,HG00543,HG00557,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00607,HG00608,HG00613,HG00614,HG00619,HG00620,HG00650,HG00651,HG00654,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00707,HG00708,HG00740,HG01048,HG01051,HG01052,HG01055,HG01060,HG01066,HG01067,HG01070,HG01072,HG01073,HG01079,HG01080,HG01082,HG01083,HG01102,HG01108,HG01113,HG01170,HG01171,HG01173,HG01174,HG01188,HG01334,HG01350,HG01351,HG01353,HG01354,HG01359,HG01365,HG01366,HG01377,HG01383,HG01390,HG01437,HG01488,HG01518,NA11831,NA12154,NA12249,NA18530,NA18534,NA18543,NA18549,NA18557,NA18559,NA18602,NA18606,NA18609,NA18613,NA18620,NA18621,NA18623,NA18632,NA18636,NA18638,NA19190,NA19197,NA19223,NA19324,NA19376,NA19379,NA19383,NA19385,NA19394,NA19401,NA19404,NA19428,NA19436,NA19452,NA19457,NA19463,NA19648,NA19651,NA19652,NA19654,NA19655,NA19657,NA19660,NA19661,NA19663,NA19664,NA19675,NA19676,NA19678,NA19679,NA19681,NA19682,NA19684,NA19685,NA19712,NA19716,NA19717,NA19719,NA19720,NA19723,NA19725,NA19726,NA19728,NA19729,NA19731,NA19732,NA19746,NA19749,NA19750,NA19755,NA19756,NA19758,NA19759,NA19762,NA19770,NA19773,NA19774,NA19776,NA19779,NA19780,NA19782,NA19785,NA19788,NA19789,NA19818,NA19920,NA20126,NA20296,NA20322,NA20356 esv2738695 1 6072233 6072569 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6703848,essv6784978 M 96 0 2 KCNAB2 SSM040,SSM069 esv2738806 1 6072373 6072632 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668920,essv6885973,essv6846992,essv6933292,essv6776923,essv6972310 M 96 0 6 KCNAB2 SSM021,SSM029,SSM031,SSM067,SSM086,SSM096 esv2738917 1 6085713 6086177 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6910024,essv6839958,essv6804391 M 96 0 3 KCNAB2 SSM015,SSM074,SSM084 nsv871698 1 6088364 6577765 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 esv2739028 1 6103291 6103397 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6699586 S 96 0 1 KCNAB2 SSM039 nsv461283 1 6108377 6184092 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537694 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHD5,KCNAB2 HGDP00491 dgv117n71 1 6117171 6196869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871316,nsv871032 M 6533 0 2 CHD5,KCNAB2 IS39233,MS21124 dgv118n71 1 6141325 6212870 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 6141325 6245143 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 6141325 6456472 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 6149122 6233573 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 6158562 6577765 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 6161075 6196869 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 6161760 6162540 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431963 S 31 1 0 CHD5 NA18972 esv21998 1 6166718 6169303 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17786 S 451 1 0 CHD5 NA06985 esv2739139 1 6167296 6167468 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6821164,essv6941768,essv6721992,essv6813157,essv6853213 M 96 0 5 CHD5 SSM023,SSM045,SSM077,SSM079,SSM087 esv2676924 1 6167709 6168580 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5397445 S 1151 0 1 CHD5 HG00476 nsv870818 1 6175489 6212870 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 6189351 6324478 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 6190215 6212870 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417552 S 112 0 1 CHD5 NA18971 nsv854 1 6191265 6236143 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7151 S 9 0 1 CHD5 NA12156 nsv871123 1 6202245 6245143 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 esv2739250 1 6214958 6215186 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6748154 S 96 0 1 CHD5 SSM008 esv2739361 1 6214972 6215433 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6679149,essv6846993,essv6699588 M 96 0 3 CHD5 SSM033,SSM039,SSM086 esv2739473 1 6219836 6220595 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874690,essv6679150,essv6747762,essv6773423,essv6910025,essv6921700,essv6750583,essv6797434,essv6877660,essv6937659,essv6832585,essv6950535,essv6892306,essv6742123,essv6733472,essv6784465,essv6780850,essv6913986,essv6925674,essv6813158,essv6972311,essv6801607,essv6776924,essv6738797,essv6789134,essv6954717,essv6761844,essv6699589,essv6863939,essv6714227,essv6917409,essv6859169,essv6967913,essv6885974,essv6961534,essv6718798,essv6695565 M 96 0 37 CHD5 SSM006,SSM007,SSM009,SSM015,SSM016,SSM017,SSM018,SSM019,SSM022,SSM025,SSM026,SSM027,SSM028,SSM029,SSM033,SSM039,SSM043,SSM049,SSM052,SSM053,SSM056,SSM057,SSM062,SSM066,SSM067,SSM068,SSM070,SSM072,SSM073,SSM077,SSM082,SSM088,SSM089,SSM092,SSM093,SSM096,SSM098 esv2739584 1 6220198 6220504 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874690,essv6773423,essv6910025,essv6750583,essv6797434,essv6877660,essv6832585,essv6937659,essv6950535,essv6892306,essv6780850,essv6885974,essv6913986,essv6925674,essv6972311,essv6813158,essv6801607,essv6776924,essv6789134,essv6699589,essv6954717,essv6863939,essv6761844,essv6714227,essv6961534,essv6859169,essv6967913,essv6718798,essv6695565 M 96 0 29 CHD5 SSM006,SSM007,SSM015,SSM016,SSM019,SSM022,SSM025,SSM026,SSM027,SSM028,SSM029,SSM039,SSM043,SSM057,SSM062,SSM066,SSM067,SSM068,SSM070,SSM072,SSM073,SSM077,SSM082,SSM088,SSM089,SSM092,SSM093,SSM096,SSM098 dgv120n71 1 6246371 6373474 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 6252443 6330015 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 6280681 6324363 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825808,nsv825919 M 31 2 0 ACOT7,GPR153,HES3,ICMT,RNF207 AK6,NA18969 nsv508825 1 6281335 6346609 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623771 S 4 1 0 ACOT7,GPR153,HES3,ICMT,RNF207 NA18994 nsv871569 1 6291810 6387784 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 6291810 6560363 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 6292070 6330015 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 6293890 6312016 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 6304912 6461530 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 6305053 6325098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871571,nsv871034 M 6533 0 2 ACOT7,GPR153,HES3 SP54043,SP54173 nsv871266 1 6305053 6330015 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 6307255 6367219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702667 S 2026 0 1 ACOT7,GPR153 nsv871324 1 6308570 6351176 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 6312016 6324331 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 6313180 6357882 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7223 S 9 0 1 ACOT7,GPR153 NA12156 nsv871117 1 6315532 6330015 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 6322936 6330015 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696748 S 2026 0 1 ACOT7 esv2739695 1 6325177 6325517 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6937660,essv6793268 M 96 0 2 ACOT7 SSM022,SSM071 esv2739806 1 6325323 6325452 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6937660 S 96 0 1 ACOT7 SSM022 esv2678878 1 6360584 6360699 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6353190,essv6301497,essv6522014,essv6126119,essv5566219,essv6331114,essv5573056,essv5581840,essv5881636,essv5590205,essv5603474,essv6251253,essv5616662,essv5629280,essv6134833,essv6502128,essv5646124,essv5832694,essv5740501,essv5655032,essv6002646,essv6206653,essv6055933,essv5929484,essv5874369,essv5912815,essv6075688,essv6068092,essv5829830,essv6433661,essv6252739,essv6209670,essv5889294,essv6274070,essv6021622,essv6106893,essv6517152,essv5713936,essv5953943,essv6440921,essv6061635,essv6501160,essv6406490,essv5774476,essv6490833,essv5445152,essv6425276,essv6430960,essv5933190,essv6580549,essv5960431,essv6320069,essv6349142,essv5770630,essv6476379,essv6356107 M 1151 0 56 ACOT7 HG00143,HG00146,HG00250,HG00421,HG00436,HG00513,HG00689,HG00692,HG01354,HG01521,NA07051,NA07346,NA11830,NA12058,NA12154,NA12400,NA18486,NA18520,NA18565,NA18570,NA18599,NA18615,NA18873,NA18963,NA18984,NA18986,NA18987,NA18988,NA19004,NA19007,NA19055,NA19057,NA19064,NA19065,NA19067,NA19213,NA19350,NA19439,NA19676,NA19707,NA19780,NA19788,NA19819,NA19834,NA19835,NA19916,NA19920,NA19982,NA20524,NA20533,NA20539,NA20752,NA20757,NA20769,NA20783,NA20787 esv24092 1 6366319 6368893 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18277 S 451 0 1 ACOT7 NA19240 nsv522013 1 6367219 6456472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694782 S 2026 0 1 ACOT7 esv2739917 1 6367699 6368264 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6780851,essv6917410,essv6801608,essv6950084,essv6967914,essv6859170 M 96 0 6 ACOT7 SSM004,SSM017,SSM028,SSM068,SSM073,SSM088 esv2740028 1 6367870 6367923 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6859170 S 96 0 1 ACOT7 SSM088 nsv521525 1 6379607 6387784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698142 S 2026 0 1 ACOT7 nsv1076 1 6385350 6429582 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2226 S 9 0 1 ACOT7 NA18555 dgv125n71 1 6403020 6564156 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 6411214 6456472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699845 S 2026 0 1 ACOT7 dgv11e199 1 6434463 6445353 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2665730,esv2673327 M 1151 0 8 ACOT7 HG00138,HG00159,HG00246,HG00325,HG00684,HG01140,NA12342,NA20504 esv2678076 1 6438169 6445895 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5574356,essv5746308,essv5579207,essv6323711,essv6110969,essv5621209,essv5712074,essv6180877,essv6038179,essv5814488,essv6083095,essv6270116,essv5499015 M 1151 0 13 ACOT7 HG00138,HG00159,HG00176,HG00246,HG00325,HG00345,HG01140,NA12044,NA12046,NA12342,NA18558,NA19914,NA20504 esv21684 1 6438194 6445835 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12785 S 451 0 1 ACOT7 NA12044 dgv2n27 1 6456472 6572175 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 esv2678507 1 6458636 6459610 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5518920,essv5544144,essv5547221,essv5761716,essv5695343,essv5461566,essv6014139,essv6395166 M 1151 0 8 "" NA18489,NA18853,NA19247,NA19331,NA19332,NA19428,NA19472,NA19664 esv29840 1 6458853 6459551 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11459 S 451 0 2 "" NA18517,NA18523 nsv508836 1 6466956 6561089 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619766 S 4 1 0 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 NA10860 esv25412 1 6476628 6521516 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14500 S 451 1 2 ESPN,HES2,MIR4252,TNFRSF25 NA12489,NA18916,NA19147 nsv871453 1 6477188 6487031 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 6477188 6564156 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 6478028 6671974 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 6484848 6521003 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558540 S 1 1 0 ESPN,MIR4252 KB1 nsv831536 1 6489386 6665403 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 6489926 6524490 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826030,nsv826142 M 31 2 0 ESPN,MIR4252,TNFRSF25 NA18564,NA18969 nsv470690 1 6494399 6572175 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547695 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ESPN,PLEKHG5,TNFRSF25 HGDP00553 nsv870465 1 6498854 6533135 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 6498854 6577765 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871254,nsv870922,nsv870746 M 6533 0 3 ESPN,PLEKHG5,TNFRSF25 MS16315,SP54043,SP54956 dgv127n71 1 6509558 6542330 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870902,nsv870790 M 6533 0 2 ESPN,PLEKHG5,TNFRSF25 SP55019,SP55021 nsv470691 1 6520311 6577765 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547696 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ESPN,PLEKHG5,TNFRSF25 HGDP00978 dgv128n71 1 6522208 6534781 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 6523430 6542330 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 6523430 6580896 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538332 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLEKHG5,TNFRSF25 HGDP00614 nsv1187 1 6547844 6567465 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3152 S 9 1 0 PLEKHG5 NA12878 nsv831647 1 6585869 6647590 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 6618972 6618972 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064753 S 2 1 0 TAS1R1 HuRef esv259781 1 6620440 6630419 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 6623499 6720990 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 6639847 7110334 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 6642664 6653339 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 6657240 6688358 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871056,nsv871742 M 6533 0 3 KLHL21,PHF13,THAP3 SP54043,SP54725,SP55021 nsv826253 1 6660245 6688703 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426369 S 31 1 0 KLHL21,PHF13,THAP3 AK6 nsv437199 1 6702151 6803747 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467080 S 60 0 1 Samples from several populations that are part of the HapMap project. DNAJC11 NA19205 esv2640779 1 6728607 6729873 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234545 S 1 0 1 DNAJC11 NA18507 esv2237641 1 6729218 6729787 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834781 S 1 0 1 DNAJC11 NA18507 nsv1298 1 6738208 6758452 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4861 S 9 1 0 DNAJC11 NA19129 nsv525013 1 6756434 6761261 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701050 S 2026 0 1 DNAJC11 esv2660484 1 6762325 6763729 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6494991 S 1151 0 1 "" NA19916 esv28409 1 6762626 6763496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18257 S 451 0 1 "" NA18909 esv28362 1 6787516 6793395 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14015 S 451 1 0 "" NA19225 esv2658131 1 6791743 6793120 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6536392,essv6579898 M 1151 0 2 "" NA19373,NA19393 nsv512713 1 6802507 6802802 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625337 S 1 1 0 "" 1 esv1464790 1 6802621 6802621 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709090 S 2 1 0 "" HuRef esv1979443 1 6858542 6858971 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873252 S 1 0 1 CAMTA1 NA18507 esv2740139 1 6858553 6858864 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836179,essv6916551,essv6821165,essv6921701,essv6910026,essv6797435,essv6972312,essv6703849,essv6807361,essv6766528,essv6721993,essv6895835,essv6800487,essv6780852,essv6689250,essv6871703,essv6784979,essv6880412,essv6902516,essv6707251,essv6801609,essv6925675,essv6813159,essv6718152,essv6954719,essv6863940,essv6714228,essv6853214,essv6804392,essv6946478,essv6710566,essv6793269 M 96 0 32 CAMTA1 SSM002,SSM003,SSM013,SSM015,SSM018,SSM019,SSM024,SSM026,SSM029,SSM036,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM064,SSM068,SSM069,SSM071,SSM072,SSM073,SSM074,SSM075,SSM077,SSM079,SSM083,SSM087,SSM089,SSM091,SSM094,SSM099 esv1086035 1 6858652 6858831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780745 S 2 0 1 CAMTA1 HuRef esv999225 1 6858656 6858832 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 6861345 6861918 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20468 S 451 0 1 CAMTA1 NA18909 nsv871178 1 6886649 6972393 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586580 S 6533 0 1 CAMTA1 IS37874 esv2740250 1 6977037 6977502 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6929046 S 96 0 1 CAMTA1 SSM020 esv2556451 1 7000416 7001246 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345164 S 1 1 0 CAMTA1 NA18507 nsv512714 1 7000943 7000999 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625338 S 1 1 0 CAMTA1 1 esv1590628 1 7000995 7000995 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106152 S 2 1 0 CAMTA1 HuRef esv28688 1 7022668 7023529 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12322 S 451 0 2 CAMTA1 NA12489,NA18517 esv2482000 1 7043630 7044699 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354983 S 1 1 0 CAMTA1 NA18507 esv988826 1 7078203 7078203 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 7090216 7099660 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696693 S 2026 0 1 CAMTA1 esv990496 1 7147391 7159783 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 esv2740361 1 7161904 7164364 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6946479,essv6710567 M 96 0 2 CAMTA1 SSM024,SSM042 esv2740472 1 7163491 7164122 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6946479 S 96 0 1 CAMTA1 SSM024 esv2662615 1 7163578 7164357 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5516164,essv6570341,essv5747126,essv6541165,essv5884386,essv6551273,essv5809862,essv6510586,essv5530572,essv6425611,essv5939466,essv6443521,essv6103376,essv6390151,essv6024967,essv6524729,essv5988896,essv6478572,essv6236128,essv6400414,essv5545314,essv6267698,essv5825273,essv6400365,essv5546239,essv6342382,essv6091553,essv6313096,essv5559070,essv6280102,essv6151036,essv6392068,essv5562667,essv6320692,essv5567262,essv6336524,essv6045115,essv6550476,essv5570529,essv6585810,essv5577675,essv6256694,essv5824214,essv6471790,essv5582425,essv6263300,essv5586182,essv6539568,essv5586530,essv6508293,essv6118440,essv6493628,essv6077806,essv6291866,essv6220693,essv6420161,essv6021950,essv6389571,essv5725971,essv6417621,essv5751967,essv6297745,essv6213322,essv6522841,essv5604783,essv6400012,essv6136763,essv6262940,essv6106189,essv6359511,essv5608651,essv6477117,essv5847007,essv6464000,essv5610386,essv6339704,essv5969769,essv6581149,essv6071423,essv6417169,essv5614360,essv6284032,essv5614526,essv6260308,essv5779219,essv6340463,essv5905901,essv6404374,essv5622472,essv6326297,essv5727031,essv6475526,essv6003699,essv6436368,essv6133354,essv6252777,essv6001304,essv6572989,essv5635531,essv6446225,essv6031050,essv6246335,essv5637918,essv6486681,essv5640023,essv6552907,essv6120183,essv6542582,essv5640425,essv6349849,essv5643917,essv6495505,essv5644272,essv6249994,essv5874213,essv6509693,essv5969894,essv6414758,essv6201308,essv6058189,essv6059252,essv6031455,essv6237058,essv5661113,essv5646313,essv5969131,essv6239833,essv5957709,essv5669141,essv5670913,essv5680344,essv6081756,essv5996400,essv5910254,essv5687811,essv5976154,essv5914269,essv5816558,essv6179353,essv5705913,essv6021253,essv5886921,essv5714957,essv6088475,essv6206663,essv5931053,essv5743362,essv6002793,essv6048810,essv6080785,essv6049724,essv5934358,essv5700439,essv5700612,essv6038791,essv6034742,essv6038926,essv6035854,essv5698996,essv5700801,essv6170669,essv5396873,essv5765955,essv5778939,essv5817572,essv5846026,essv5847072,essv5407192,essv5411888,essv6157214,essv5424552,essv6236961,essv6049204,essv5432162,essv5434901,essv5435379,essv5435741,essv5437676,essv5695078,essv5443323,essv6083569,essv5693690,essv5449031,essv5865612,essv5680446,essv5457577,essv5458066,essv6179144,essv6082374,essv5467949,essv6062663,essv6117906,essv5474307,essv5921160,essv5924077,essv6221904,essv6058443,essv5773932,essv5922783,essv6235026,essv6105011,essv5834837,essv5506112,essv5798197,essv5508229,essv6142381,essv5772741 M 1151 0 207 CAMTA1 HG00106,HG00123,HG00133,HG00138,HG00140,HG00142,HG00148,HG00149,HG00154,HG00157,HG00174,HG00186,HG00187,HG00233,HG00242,HG00245,HG00262,HG00264,HG00272,HG00278,HG00308,HG00311,HG00312,HG00326,HG00336,HG00338,HG00339,HG00342,HG00357,HG00367,HG00380,HG00449,HG00478,HG00479,HG00533,HG00536,HG00537,HG00551,HG00581,HG00589,HG00590,HG00607,HG00626,HG00637,HG00641,HG00657,HG00684,HG00699,HG00701,HG00702,HG00707,HG00736,HG00737,HG00740,HG01048,HG01060,HG01080,HG01101,HG01125,HG01133,HG01134,HG01136,HG01149,HG01170,HG01254,HG01354,HG01365,HG01377,HG01384,HG01491,HG01497,HG01551,NA06989,NA11830,NA12045,NA12155,NA12272,NA12342,NA12347,NA12348,NA12778,NA18488,NA18489,NA18516,NA18519,NA18520,NA18543,NA18550,NA18564,NA18567,NA18611,NA18613,NA18616,NA18617,NA18631,NA18634,NA18637,NA18853,NA18856,NA18867,NA18873,NA18874,NA18908,NA18945,NA18959,NA18963,NA18964,NA18977,NA18982,NA18986,NA18988,NA19007,NA19010,NA19012,NA19060,NA19062,NA19079,NA19084,NA19092,NA19107,NA19130,NA19172,NA19189,NA19213,NA19223,NA19247,NA19248,NA19256,NA19312,NA19313,NA19315,NA19324,NA19327,NA19331,NA19334,NA19346,NA19350,NA19360,NA19376,NA19382,NA19384,NA19390,NA19396,NA19397,NA19428,NA19431,NA19435,NA19436,NA19439,NA19440,NA19443,NA19445,NA19448,NA19449,NA19452,NA19457,NA19463,NA19467,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19648,NA19658,NA19661,NA19676,NA19678,NA19685,NA19700,NA19701,NA19712,NA19713,NA19746,NA19780,NA19818,NA19819,NA19834,NA19900,NA19901,NA19916,NA19917,NA19982,NA20127,NA20332,NA20348,NA20510,NA20521,NA20533,NA20537,NA20541,NA20581,NA20757,NA20759,NA20770,NA20771,NA20785,NA20786,NA20787,NA20792,NA20796,NA20800,NA20802,NA20809,NA20810 esv2444029 1 7164106 7164254 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208770 S 1 0 1 CAMTA1 NA18507 esv2740584 1 7174710 7175533 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6679151,essv6668923,essv6668922,essv6916562,essv6735968,essv6750584,essv6937661,essv6888993,essv6972313,essv6816621,essv6824967,essv6895836,essv6703850,essv6846994,essv6742124,essv6888994,essv6784980,essv6766529,essv6898595,essv6669110,essv6880413,essv6843754,essv6810331,essv6729605,essv6954720,essv6816569,essv6906090,essv6863941,essv6929047,essv6853215,essv6682814,essv6756539,essv6804393,essv6859171,essv6859172,essv6961535,essv6696981 M 96 0 34 CAMTA1 SSM003,SSM005,SSM010,SSM011,SSM014,SSM020,SSM022,SSM026,SSM027,SSM029,SSM031,SSM033,SSM034,SSM038,SSM040,SSM047,SSM050,SSM053,SSM057,SSM059,SSM064,SSM069,SSM074,SSM076,SSM078,SSM080,SSM086,SSM087,SSM088,SSM089,SSM094,SSM097,SSM099,SSM100 esv2740695 1 7174774 7175085 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6916562,essv6668922,essv6784980,essv6735968,essv6937661,essv6750584,essv6824967,essv6972313,essv6888993,essv6742124,essv6846994,essv6810331,essv6766529,essv6898595,essv6880413,essv6843754,essv6679151,essv6729605,essv6954720,essv6816569,essv6863941,essv6895836,essv6929047,essv6756539,essv6682814,essv6853215,essv6906090,essv6804393,essv6859171 M 96 0 29 CAMTA1 SSM003,SSM011,SSM014,SSM020,SSM022,SSM026,SSM029,SSM031,SSM033,SSM034,SSM047,SSM050,SSM053,SSM057,SSM059,SSM064,SSM069,SSM074,SSM076,SSM078,SSM080,SSM086,SSM087,SSM088,SSM089,SSM094,SSM097,SSM099,SSM100 esv1124399 1 7174845 7175286 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044198 S 2 0 1 CAMTA1 HuRef esv2740806 1 7174997 7175059 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961535 S 96 0 1 CAMTA1 SSM027 esv2740917 1 7175202 7175508 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668923,essv6703850,essv6888994,essv6669110,essv6859172,essv6696981 M 96 0 6 CAMTA1 SSM005,SSM031,SSM038,SSM040,SSM088,SSM097 esv2741028 1 7175354 7175695 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6753481,essv6750585,essv6846995,essv6703851,essv6876632,essv6839959,essv6892307,essv6810333,essv6718155,essv6784981,essv6789135,essv6863943,essv6682815,essv6714229,essv6859173,essv6961536,essv6710568 M 96 0 17 CAMTA1 SSM012,SSM027,SSM034,SSM040,SSM042,SSM043,SSM044,SSM057,SSM058,SSM069,SSM070,SSM076,SSM084,SSM086,SSM088,SSM089,SSM098 esv2741139 1 7175622 7175693 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972314,essv6846995,essv6961536 M 96 0 3 CAMTA1 SSM027,SSM029,SSM086 nsv462394 1 7186325 7231484 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538567 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAMTA1 HGDP00797 nsv871273 1 7256943 7326621 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 7324468 7325408 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586154 S 1250 0 1 CAMTA1 nsv1410 1 7415626 7439988 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1411 S 9 1 0 CAMTA1 NA19240 nsv871464 1 7464375 7668346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530411 S 6533 0 1 CAMTA1 MS10311 esv2666029 1 7483023 7486286 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6204851,essv6179805 M 1151 0 2 CAMTA1 NA19455,NA19472 nsv527338 1 7483046 7486317 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703764 S 2026 0 1 CAMTA1 esv274189 1 7486157 7486371 CNV Insertion 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 7486224 7486491 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 7491357 7671673 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 7492991 7525982 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 7504737 7527308 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 7507642 7519264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705976 S 2026 0 1 CAMTA1 nsv518903 1 7513025 7518698 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696361 S 2026 0 1 CAMTA1 nsv870872 1 7513025 7575666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546440 S 6533 0 1 CAMTA1 MS17208 esv2741250 1 7516973 7517136 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6954721 S 96 0 1 CAMTA1 SSM026 esv2741361 1 7533944 7534581 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972315,essv6759028,essv6747763,essv6753482,essv6750587,essv6742125,essv6883248,essv6950536,essv6933293,essv6748165,essv6816570,essv6853216,essv6756540,essv6967915 M 96 0 14 CAMTA1 SSM008,SSM021,SSM025,SSM028,SSM029,SSM053,SSM056,SSM057,SSM058,SSM059,SSM061,SSM078,SSM087,SSM095 nsv526782 1 7547212 7549488 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703134 S 2026 0 1 CAMTA1 esv2661964 1 7552939 7553255 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6293916,essv5519409,essv6519373,essv5837134,essv6359806,essv5543317,essv6294946,essv5563441,essv6496652,essv5631811,essv6388199,essv5654342,essv5659994,essv5767850,essv5455258,essv5460735,essv5770295,essv5930148,essv5976416 M 1151 0 19 CAMTA1 HG00182,HG00268,NA07048,NA07346,NA12272,NA12348,NA12751,NA12775,NA18595,NA19068,NA20537,NA20581,NA20770,NA20773,NA20787,NA20796,NA20807,NA20826,NA20828 esv2647714 1 7552972 7553235 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309036 S 1 0 1 CAMTA1 NA18507 esv1935214 1 7553390 7553700 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549214 S 1 0 1 CAMTA1 NA18507 nsv527595 1 7557152 7567412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704056 S 2026 0 1 CAMTA1 esv2741472 1 7558571 7561170 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836180,essv6898596,essv6668924,essv6910027,essv6921702,essv6753483,essv6821167,essv6941769,essv6898601,essv6937663,essv6937664,essv6937665,essv6946480,essv6972316,essv6913987,essv6902517,essv6925676,essv6954722,essv6925677,essv6895837,essv6686145,essv6950095,essv6784982,essv6859174,essv6710569 M 96 0 21 CAMTA1 SSM004,SSM013,SSM015,SSM016,SSM018,SSM019,SSM022,SSM023,SSM024,SSM026,SSM029,SSM031,SSM035,SSM042,SSM058,SSM069,SSM079,SSM083,SSM088,SSM099,SSM100 esv2741695 1 7558767 7558973 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6925676 S 96 0 1 CAMTA1 SSM019 dgv13e201 1 7558767 7559448 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2741806,esv2741583 M 96 0 5 CAMTA1 SSM015,SSM019,SSM022,SSM024,SSM069 esv2741917 1 7559176 7560063 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6895837,essv6836180,essv6668924,essv6753483,essv6921702,essv6821167,essv6898601,essv6898596,essv6941769,essv6937664,essv6937665,essv6686145,essv6902517,essv6925677,essv6950095,essv6710569 M 96 0 14 CAMTA1 SSM004,SSM013,SSM018,SSM019,SSM022,SSM023,SSM031,SSM035,SSM042,SSM058,SSM079,SSM083,SSM099,SSM100 esv2661908 1 7559443 7560192 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6277708,essv5516870,essv6323846,essv5730675,essv6413800,essv5880716,essv6539128,essv5529359,essv6453030,essv5922093,essv6486219,essv5974102,essv6221071,essv6067706,essv6387039,essv6114357,essv6256312,essv5575074,essv6276685,essv5975923,essv6243910,essv5583577,essv6542409,essv6052009,essv6550513,essv5663358,essv6337763,essv5788311,essv6338713,essv6041331,essv6566368,essv5709998,essv6242215,essv5962151,essv6248487,essv5997726,essv6427001,essv5840912,essv6576540,essv6037941,essv6226576,essv6124063,essv6268374,essv5850234,essv6483131,essv5851944,essv6273213,essv5436826,essv6241832,essv5457551,essv6544631,essv5739381,essv6249502,essv6002886,essv6345359,essv5508604,essv6515957,essv5814285,essv6482932,essv6557749 M 1151 0 60 CAMTA1 HG00106,HG00112,HG00123,HG00125,HG00239,HG00306,HG00418,HG00427,HG00512,HG00525,HG00566,HG00577,HG00580,HG00584,HG00595,HG00608,HG00654,HG00656,HG00663,HG00689,HG00692,HG00702,HG00704,HG00705,HG00707,HG01051,HG01075,HG01183,HG01440,NA11994,NA18549,NA18550,NA18593,NA18596,NA18615,NA18616,NA18623,NA18628,NA18634,NA18635,NA18961,NA18963,NA18984,NA19010,NA19074,NA19075,NA19077,NA19082,NA19130,NA19395,NA19434,NA19449,NA19453,NA19457,NA19684,NA19834,NA20518,NA20521,NA20586,NA20787 nsv826364 1 7566435 7567432 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421439 S 31 1 0 CAMTA1 NA18997 nsv7991 1 7568485 7571753 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26894 S 31 1 0 Samples from several populations that are part of the HapMap project. CAMTA1 NA18860 esv28432 1 7569215 7571521 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12117 S 451 28 1 CAMTA1 NA06985,NA11931,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820592 1 7569215 7571601 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420846 S 1 0 1 CAMTA1 NA10851 nsv826475 1 7569215 7571601 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH 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 7569617 7572326 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286155 S 1 0 1 CAMTA1 NA18507 nsv819302 1 7569818 7571415 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 7569911 7571692 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836092 S 1 0 1 CAMTA1 NA18507 esv3915 1 7570034 7571684 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26356 S 1 0 1 Single Asian sample YH CAMTA1 YH esv2742028 1 7570043 7571536 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6738799,essv6874691,essv6759029,essv6895838,essv6916573,essv6800598,essv6769506,essv6668925,essv6753484,essv6773424,essv6744926,essv6921703,essv6910029,essv6821168,essv6898602,essv6917411,essv6742126,essv6883249,essv6933294,essv6703852,essv6888995,essv6832586,essv6766530,essv6972318,essv6669121,essv6780853,essv6950106,essv6816571,essv6692747,essv6718156,essv6885976,essv6776925,essv6902518,essv6707252,essv6954723,essv6789136,essv6748176,essv6853217,essv6682816,essv6925678,essv6804394,essv6784983,essv6961537,essv6695576,essv6686146,essv6675190,essv6710570 M 96 0 47 CAMTA1 SSM002,SSM003,SSM004,SSM005,SSM006,SSM008,SSM013,SSM015,SSM017,SSM018,SSM019,SSM021,SSM026,SSM027,SSM029,SSM031,SSM032,SSM034,SSM035,SSM037,SSM040,SSM041,SSM042,SSM044,SSM052,SSM053,SSM055,SSM058,SSM061,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM074,SSM078,SSM079,SSM082,SSM087,SSM092,SSM095,SSM096,SSM097,SSM099,SSM100 esv2657512 1 7570071 7571526 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6325203,essv6063213,essv6366589,essv5979160,essv6577034,essv5522275,essv6204790,essv5942501,essv6298889,essv5819410,essv6290633,essv5961649,essv6207963,essv5887358,essv6542778,essv5536940,essv6214231,essv5537806,essv6075734,essv5883741,essv6377227,essv5825537,essv6497319,essv5542914,essv6242378,essv6014564,essv6538832,essv5927894,essv6292739,essv5826648,essv6134386,essv5552465,essv6458151,essv5556929,essv6281857,essv5896582,essv6419778,essv5559722,essv6100322,essv5559985,essv6460438,essv5749177,essv6399921,essv5902353,essv6464636,essv5568082,essv6364050,essv5898397,essv6538809,essv5727746,essv6418911,essv5924719,essv6146355,essv5576898,essv6303515,essv5931759,essv6253385,essv5913542,essv6392822,essv6049159,essv6118990,essv5589809,essv6148159,essv5922932,essv6287100,essv5875330,essv6315369,essv5596979,essv6447140,essv5597762,essv6202404,essv5598326,essv6572516,essv5602417,essv6303691,essv5605115,essv6266308,essv5815954,essv6424790,essv5609761,essv6119227,essv5841667,essv6109378,essv5612440,essv6506715,essv5891446,essv6317995,essv6009563,essv6366028,essv5618196,essv6354985,essv5620153,essv6535980,essv6030341,essv6295813,essv5621444,essv6133433,essv5621604,essv6246172,essv5621944,essv6575482,essv5622190,essv6581519,essv6069004,essv6325429,essv5902435,essv6372156,essv5630336,essv6354211,essv6015013,essv6496136,essv5631596,essv6442019,essv5675761,essv6167253,essv6046099,essv6543277,essv5636594,essv6431057,essv6016935,essv6081607,essv5798315,essv6418480,essv5732462,essv6099962,essv5823780,essv6160626,essv5646630,essv6193427,essv5647981,essv6193468,essv5648473,essv6544648,essv6018100,essv6199820,essv6027439,essv6367627,essv5658671,essv6578015,essv6057755,essv6228501,essv5950392,essv6471769,essv5781061,essv6127324,essv5909185,essv6189325,essv5806520,essv6438064,essv5998324,essv6308899,essv5687666,essv6413777,essv6013738,essv6442157,essv5888481,essv6253213,essv5692329,essv6519589,essv5766898,essv6363379,essv5908549,essv6564812,essv5799224,essv6260423,essv5703541,essv6291742,essv6053521,essv6233292,essv5754165,essv6278813,essv5708133,essv6465910,essv5717552,essv6561443,essv5898881,essv6528378,essv5796224,essv6387037,essv5978907,essv6286695,essv5928849,essv6310275,essv6007472,essv6271138,essv5898893,essv6169504,essv5971897,essv6123121,essv5927521,essv6376701,essv5876669,essv6231964,essv5744317,essv6085784,essv5981620,essv6597320,essv5833907,essv6453378,essv6004098,essv6548964,essv5818092,essv6363517,essv5793684,essv6332805,essv5830971,essv6438446,essv5973166,essv6458057,essv5778687,essv6515447,essv5829887,essv6544861,essv6039563,essv6483263,essv5397363,essv6086542,essv5399289,essv6445705,essv5404078,essv6542461,essv5790430,essv6083900,essv6068568,essv6460683,essv5800783,essv6495337,essv6041407,essv6288927,essv5412555,essv6301711,essv5852805,essv6303084,essv5853039,essv6445191,essv5420861,essv6481631,essv5421776,essv6491045,essv6069629,essv6506775,essv5428010,essv6514311,essv5429536,essv6436832,essv5430800,essv6171336,essv5431607,essv6385424,essv5432008,essv6536764,essv5433351,essv6135664,essv5433597,essv6294648,essv5858235,essv6449470,essv5691391,essv6149199,essv5440192,essv6233645,essv5774461,essv6595199,essv6061070,essv6216050,essv5863502,essv6160948,essv5863653,essv6090700,essv5445583,essv6527507,essv5446598,essv5450460,essv5461375,essv5465801,essv5921143,essv5771428,essv5771007,essv5686531,essv5479781,essv5957916,essv5482762,essv5489293,essv5497751,essv5499302,essv5500732,essv5503175,essv5505561,essv5506505,essv5507085,essv6044362,essv5511424,essv5966237 M 1151 0 293 CAMTA1 HG00096,HG00108,HG00111,HG00123,HG00137,HG00141,HG00145,HG00146,HG00149,HG00150,HG00177,HG00183,HG00185,HG00187,HG00188,HG00189,HG00244,HG00245,HG00246,HG00250,HG00257,HG00258,HG00259,HG00261,HG00263,HG00267,HG00270,HG00276,HG00281,HG00284,HG00309,HG00323,HG00324,HG00326,HG00329,HG00331,HG00334,HG00335,HG00337,HG00339,HG00357,HG00366,HG00372,HG00418,HG00422,HG00427,HG00428,HG00448,HG00463,HG00464,HG00472,HG00476,HG00478,HG00500,HG00501,HG00512,HG00524,HG00525,HG00531,HG00533,HG00534,HG00542,HG00543,HG00554,HG00556,HG00557,HG00560,HG00566,HG00577,HG00584,HG00589,HG00590,HG00595,HG00596,HG00608,HG00628,HG00641,HG00650,HG00653,HG00654,HG00656,HG00657,HG00663,HG00689,HG00692,HG00693,HG00698,HG00702,HG00704,HG00705,HG00707,HG00731,HG00740,HG01047,HG01061,HG01067,HG01072,HG01073,HG01080,HG01082,HG01083,HG01094,HG01107,HG01125,HG01137,HG01168,HG01170,HG01171,HG01174,HG01188,HG01334,HG01342,HG01375,HG01461,HG01497,HG01521,NA06986,NA06989,NA07000,NA07056,NA07346,NA10851,NA11829,NA11843,NA11894,NA11933,NA11993,NA11995,NA12044,NA12058,NA12155,NA12249,NA12272,NA12275,NA12282,NA12286,NA12341,NA12348,NA12414,NA12716,NA12748,NA12750,NA12751,NA12761,NA12763,NA12776,NA12778,NA12878,NA12889,NA12891,NA18507,NA18516,NA18543,NA18545,NA18546,NA18549,NA18550,NA18552,NA18553,NA18557,NA18561,NA18564,NA18565,NA18570,NA18571,NA18574,NA18576,NA18577,NA18579,NA18582,NA18593,NA18596,NA18597,NA18603,NA18608,NA18612,NA18613,NA18616,NA18618,NA18622,NA18623,NA18632,NA18633,NA18634,NA18635,NA18637,NA18638,NA18910,NA18917,NA18940,NA18961,NA18963,NA18971,NA18973,NA18974,NA18976,NA18982,NA18984,NA18985,NA18986,NA18989,NA18990,NA19002,NA19003,NA19004,NA19005,NA19012,NA19054,NA19055,NA19056,NA19058,NA19059,NA19064,NA19065,NA19066,NA19070,NA19074,NA19075,NA19077,NA19082,NA19083,NA19087,NA19107,NA19129,NA19172,NA19201,NA19347,NA19380,NA19382,NA19383,NA19399,NA19428,NA19429,NA19443,NA19455,NA19456,NA19461,NA19463,NA19470,NA19648,NA19652,NA19660,NA19661,NA19663,NA19670,NA19678,NA19681,NA19716,NA19717,NA19719,NA19762,NA19773,NA19776,NA19782,NA19783,NA19900,NA19904,NA19917,NA20291,NA20340,NA20344,NA20502,NA20507,NA20516,NA20524,NA20525,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20540,NA20541,NA20542,NA20586,NA20588,NA20589,NA20754,NA20761,NA20765,NA20769,NA20771,NA20778,NA20801,NA20804,NA20807,NA20808,NA20811,NA20812,NA20816,NA20818,NA20826 esv7233 1 7570074 7571523 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29674 S 1 0 1 CAMTA1 SJK dgv10n67 1 7570223 7571392 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826586,nsv826697 M 31 2 0 CAMTA1 NA18968,NA18969 nsv826808 1 7570563 7571143 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436326 S 31 1 0 CAMTA1 NA18542 dgv15e1 1 7571463 7688059 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1390,essv12439 M 271 0 0 CAMTA1 NA19152 esv23816 1 7577658 7579878 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15537 S 451 0 1 CAMTA1 NA18916 nsv512715 1 7580156 7580459 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625339 S 1 1 0 CAMTA1 1 nsv870745 1 7584814 7624855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529775 S 6533 0 1 CAMTA1 MS10123 esv2742139 1 7602525 7602742 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6725840,essv6668926,essv6797436,essv6941770,essv6937666,essv6703853,essv6972319,essv6828991,essv6780854,essv6871704,essv6839960,essv6892308,essv6913988,essv6843873,essv6729606,essv6789137,essv6714230,essv6853218,essv6692748,essv6784984,essv6718809,essv6793270 M 96 0 22 CAMTA1 SSM007,SSM016,SSM022,SSM023,SSM029,SSM031,SSM037,SSM040,SSM043,SSM046,SSM047,SSM068,SSM069,SSM070,SSM071,SSM072,SSM081,SSM084,SSM085,SSM087,SSM091,SSM098 esv2742250 1 7608346 7608668 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6789138 S 96 0 1 CAMTA1 SSM070 esv2742361 1 7608482 7609151 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6686147,essv6668927,essv6961538,essv6824968,essv6950537,essv6703856,essv6703855,essv6813160,essv6954724,essv6729607,essv6748187,essv6929048,essv6972320 M 96 0 12 CAMTA1 SSM008,SSM020,SSM025,SSM026,SSM027,SSM029,SSM031,SSM035,SSM040,SSM047,SSM077,SSM080 esv2742472 1 7608526 7608680 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6729607 S 96 0 1 CAMTA1 SSM047 esv2742583 1 7608579 7608893 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668927,essv6824968,essv6703855,essv6961538,essv6972320,essv6813160,essv6954724 M 96 0 7 CAMTA1 SSM026,SSM027,SSM029,SSM031,SSM040,SSM077,SSM080 esv2659209 1 7608707 7608988 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5969456,essv6449723,essv5780800,essv6454559,essv6002095,essv6560388,essv5552184,essv6259671,essv6047007,essv6227062,essv5596229,essv6197629,essv5843249,essv6202094,essv5598963,essv6332746,essv6011559,essv6491493,essv5606710,essv6181882,essv5830392,essv6307472,essv6023491,essv6370362,essv5621963,essv6363270,essv5818796,essv6483714,essv5734717,essv6381961,essv5731775,essv6508398,essv5712548,essv6209120,essv5777606,essv6172097,essv5706883,essv6171580,essv5767932,essv6308050,essv5922415,essv6425308,essv5408562,essv6481233,essv5706547,essv6456482,essv5420525,essv6296113,essv5424543,essv6292677,essv5425830,essv6521117,essv6046646,essv6134379,essv5859553,essv6448015,essv6082159,essv6364686,essv5867425,essv6177373,essv5869401,essv5463301,essv5467230,essv5945474,essv5479911,essv5484759,essv5758254,essv5897976,essv5502203,essv5974689,essv5833833 M 1151 0 71 CAMTA1 HG00111,HG00125,HG00154,HG00265,HG00277,HG00313,HG00319,HG00321,HG00323,HG00330,HG00342,HG00345,HG00369,HG00418,HG00427,HG00463,HG00475,HG00500,HG00512,HG00524,HG00534,HG00581,HG00589,HG00654,HG00657,HG00662,HG00671,HG00699,HG00701,HG00707,HG00708,HG01051,HG01052,HG01061,HG01067,HG01069,HG01070,HG01072,HG01079,HG01082,HG01102,HG01112,HG01251,HG01334,HG01354,HG01389,HG01437,HG01518,NA12829,NA12889,NA18530,NA18559,NA18563,NA18564,NA18595,NA18597,NA18602,NA18610,NA18635,NA18949,NA18956,NA19327,NA19663,NA19707,NA19731,NA19758,NA19762,NA19773,NA19785,NA19786,NA20299 esv993163 1 7608732 7608958 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 esv2742694 1 7608735 7609087 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668927,essv6703856,essv6950537,essv6686147,essv6954724,essv6961538,essv6929048,essv6972320 M 96 0 8 CAMTA1 SSM020,SSM025,SSM026,SSM027,SSM029,SSM031,SSM035,SSM040 esv1611358 1 7608740 7608967 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860626 S 2 0 1 CAMTA1 HuRef esv2742806 1 7608742 7608969 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668927,essv6961538,essv6686147,essv6972320,essv6954724 M 96 0 5 CAMTA1 SSM026,SSM027,SSM029,SSM031,SSM035 nsv520077 1 7637979 7644802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697212 S 2026 0 1 CAMTA1 esv2672475 1 7645754 7648432 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6057115,essv6269373,essv5833909,essv5955720,essv6336025 M 1151 0 5 CAMTA1 NA19093,NA19374,NA19383,NA19399,NA19916 nsv871278 1 7686194 7748525 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 7715032 7715386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674847 S 1 0 1 CAMTA1 NA18507 esv8105 1 7715050 7715285 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30546 S 1 0 1 CAMTA1 SJK nsv871889 1 7715776 7775335 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 7763029 7765558 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13845 S 451 1 0 CAMTA1 NA06985 esv2671025 1 7803173 7804451 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6423324,essv5719957,essv5844959,essv5838521,essv6542419 M 1151 0 5 CAMTA1 HG01170,NA19332,NA19435,NA19466,NA19703 nsv870846 1 7845695 7911099 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 7856397 7864940 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179611 M 24 PER3 esv2742917 1 7889475 7890364 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874692,essv6950117,essv6917412,essv6916584,essv6769507,essv6725841,essv6933296,essv6773425,essv6668928,essv6816632,essv6961539,essv6941771,essv6821169,essv6797437,essv6910030,essv6846996,essv6967916,essv6807362,essv6937667,essv6824969,essv6950538,essv6766531,essv6832588,essv6721994,essv6876643,essv6784476,essv6895839,essv6828992,essv6780856,essv6868702,essv6801611,essv6839961,essv6892309,essv6913989,essv6871705,essv6776926,essv6813161,essv6902520,essv6718157,essv6954725,essv6843874,essv6729608,essv6789139,essv6748198,essv6707254,essv6679152,essv6972321,essv6929049,essv6853219,essv6692749,essv6925679,essv6675191,essv6793271,essv6710571 M 96 0 54 PER3 SSM003,SSM004,SSM008,SSM009,SSM010,SSM012,SSM013,SSM015,SSM016,SSM017,SSM019,SSM020,SSM021,SSM022,SSM023,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM033,SSM037,SSM041,SSM042,SSM044,SSM045,SSM046,SSM047,SSM064,SSM065,SSM066,SSM067,SSM068,SSM070,SSM071,SSM072,SSM073,SSM075,SSM077,SSM079,SSM080,SSM081,SSM082,SSM084,SSM085,SSM086,SSM087,SSM090,SSM091,SSM092,SSM098,SSM099 esv2743028 1 7889939 7890032 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961539 S 96 0 1 PER3 SSM027 esv991458 1 7889987 7890040 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 esv2660700 1 7908752 7909494 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5452478 S 1151 0 1 UTS2 HG00310 esv2743139 1 7922901 7923112 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6946481,essv6692750 M 96 0 2 "" SSM024,SSM037 esv1585189 1 7923049 7923109 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804508 S 2 0 1 "" HuRef esv5046 1 7924934 7925672 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27487 S 1 0 1 Single Asian sample YH "" YH nsv160721 1 7924937 7925384 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179299 M 24 "" esv2666092 1 7924945 7925336 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6410868,essv5514645,essv6532343,essv5514785,essv6456380,essv6132482,essv6548934,essv5827539,essv6465980,essv6243959,essv6536918,essv5522498,essv6571214,essv5523146,essv6595168,essv5785920,essv6533523,essv5738581,essv6431536,essv5529064,essv6480407,essv5529811,essv6594272,essv6071672,essv6443466,essv5533668,essv6561835,essv5535767,essv6588926,essv6260868,essv6574163,essv5545435,essv6510402,essv5757180,essv6596517,essv5553418,essv6586392,essv5557584,essv6489640,essv6002534,essv6430122,essv6373175,essv6393424,essv5956820,essv6500087,essv5568558,essv6483548,essv6237111,essv6549133,essv6017867,essv6537226,essv6118058,essv6459955,essv5895385,essv6555651,essv6266602,essv6432049,essv5578543,essv6502651,essv5958114,essv6493965,essv5580851,essv6488901,essv6247186,essv6563493,essv5945998,essv6543548,essv6026868,essv6543789,essv5820660,essv6397283,essv6019104,essv6590580,essv5592926,essv6591211,essv5601098,essv6538912,essv5603289,essv6492955,essv5604664,essv5604893,essv5969046,essv5605498,essv6112075,essv5605737,essv5833541,essv6125274,essv6311558,essv5609501,essv6232486,essv6081705,essv5612438,essv6067271,essv6203039,essv6285255,essv5618733,essv5620420,essv5741919,essv5623821,essv5749862,essv6094165,essv5749682,essv5937051,essv5887726,essv5628583,essv6077397,essv5630473,essv6152229,essv5909595,essv5961735,essv6126415,essv6023986,essv5644539,essv5763197,essv5828338,essv5645969,essv5651255,essv5662041,essv5663920,essv6125308,essv6048322,essv5675700,essv5790466,essv5979087,essv6179194,essv5792118,essv5825612,essv6051596,essv6049443,essv6071488,essv6082818,essv5700534,essv6290565,essv5798382,essv6148849,essv5769304,essv5787385,essv5768657,essv6018318,essv6340838,essv6103553,essv5823164,essv5944620,essv6018911,essv5916279,essv5732882,essv5714806,essv5809859,essv6271034,essv6171633,essv5706376,essv5902168,essv5703301,essv6371896,essv5942016,essv6126445,essv5669965,essv6048485,essv6035737,essv6380499,essv5675803,essv6281345,essv5812895,essv6155420,essv6068574,essv5696355,essv5774770,essv5406419,essv5782284,essv6293654,essv5818900,essv6287297,essv6171239,essv5412831,essv5849787,essv6280524,essv6362683,essv5853694,essv6363300,essv6358896,essv6069827,essv5419681,essv6132893,essv6054870,essv6380029,essv6087682,essv5431965,essv5857566,essv5433918,essv5438546,essv6080098,essv5739240,essv5867074,essv5446050,essv5865517,essv6195881,essv5448321,essv5731566,essv5451346,essv5866722,essv5868308,essv5452962,essv5755871,essv6163458,essv6320462,essv5764081,essv5686994,essv6265135,essv6257924,essv5463023,essv5463498,essv6337729,essv6262983,essv5476783,essv5477186,essv5481507,essv6071609,essv5481799,essv5482282,essv6077919,essv6217184,essv5487791,essv6274257,essv6356675,essv5770734,essv6185869,essv5500862,essv5783009,essv5981820,essv5504634,essv5742128,essv6271673 M 1151 0 232 "" HG00108,HG00111,HG00125,HG00154,HG00158,HG00177,HG00236,HG00237,HG00246,HG00249,HG00251,HG00253,HG00257,HG00263,HG00267,HG00271,HG00273,HG00275,HG00276,HG00277,HG00278,HG00281,HG00284,HG00309,HG00315,HG00319,HG00326,HG00328,HG00329,HG00330,HG00331,HG00334,HG00337,HG00339,HG00342,HG00345,HG00346,HG00369,HG00375,HG00403,HG00404,HG00418,HG00419,HG00421,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00531,HG00533,HG00534,HG00536,HG00537,HG00543,HG00556,HG00557,HG00559,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00595,HG00607,HG00608,HG00610,HG00613,HG00614,HG00619,HG00620,HG00626,HG00628,HG00638,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00701,HG00702,HG00704,HG00705,HG00707,HG00740,HG01051,HG01052,HG01061,HG01069,HG01072,HG01073,HG01101,HG01102,HG01107,HG01124,HG01125,HG01133,HG01134,HG01136,HG01148,HG01149,HG01171,HG01173,HG01174,HG01187,HG01342,HG01351,HG01354,HG01366,HG01383,HG01390,HG01440,HG01462,HG01491,HG01492,NA12546,NA18530,NA18532,NA18536,NA18542,NA18543,NA18544,NA18546,NA18548,NA18549,NA18550,NA18557,NA18559,NA18560,NA18561,NA18562,NA18567,NA18574,NA18576,NA18577,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18606,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18619,NA18620,NA18621,NA18623,NA18624,NA18626,NA18627,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18868,NA18941,NA18963,NA18977,NA18984,NA18985,NA18987,NA18990,NA18999,NA19002,NA19007,NA19062,NA19072,NA19075,NA19076,NA19077,NA19080,NA19082,NA19084,NA19085,NA19088,NA19130,NA19312,NA19359,NA19391,NA19396,NA19445,NA19446,NA19455,NA19663,NA19664,NA19681,NA19682,NA19685,NA19716,NA19717,NA19720,NA19723,NA19788,NA19818 esv29691 1 7924952 7925557 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10705 S 451 0 4 "" NA12004,NA12749,NA18502,NA18858 nsv821110 1 7924952 7925557 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420957 S 1 0 1 "" NA10851 esv9095 1 7924955 7925585 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31536 S 1 0 1 "" SJK esv2743250 1 7924995 7925521 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6895840,essv6874693,essv6821170,essv6816643,essv6747764,essv6725842,essv6773426,essv6668929,essv6797438,essv6910031,essv6941772,essv6898603,essv6883250,essv6807363,essv6967918,essv6742127,essv6666886,essv6761845,essv6937668,essv6824970,essv6888996,essv6950539,essv6721995,essv6832589,essv6669132,essv6780857,essv6868703,essv6892311,essv6913990,essv6843765,essv6954726,essv6972322,essv6776927,essv6718158,essv6950128,essv6902521,essv6729610,essv6843875,essv6789140,essv6707255,essv6748209,essv6863944,essv6695587,essv6929050,essv6885977,essv6682817,essv6853221,essv6906091,essv6756541,essv6679153,essv6804395,essv6917413,essv6710572,essv6793272 M 96 0 54 "" SSM004,SSM005,SSM006,SSM008,SSM010,SSM011,SSM013,SSM014,SSM015,SSM016,SSM017,SSM020,SSM022,SSM023,SSM025,SSM026,SSM028,SSM029,SSM030,SSM031,SSM033,SSM034,SSM041,SSM042,SSM044,SSM045,SSM046,SSM047,SSM053,SSM056,SSM059,SSM062,SSM066,SSM067,SSM068,SSM070,SSM071,SSM072,SSM074,SSM075,SSM079,SSM080,SSM082,SSM085,SSM087,SSM089,SSM090,SSM092,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 esv2743361 1 7962923 7963335 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6759030,essv6846997,essv6972323,essv6725844,essv6773427,essv6941774,essv6898604,essv6821171,essv6686148,essv6883251,essv6937669,essv6888997,essv6669143,essv6721996,essv6780858,essv6913991,essv6695599,essv6954727,essv6902522,essv6816572,essv6789141,essv6707256,essv6699590,essv6853222,essv6929051,essv6859175,essv6925680,essv6675192,essv6692751,essv6696982 M 96 0 30 "" SSM005,SSM006,SSM013,SSM016,SSM019,SSM020,SSM022,SSM023,SSM026,SSM029,SSM032,SSM035,SSM037,SSM038,SSM039,SSM041,SSM045,SSM046,SSM061,SSM066,SSM068,SSM070,SSM078,SSM079,SSM086,SSM087,SSM088,SSM095,SSM097,SSM100 dgv14e201 1 7963169 7963334 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2743441,esv2740756 M 96 0 2 "" SSM031,SSM089 dgv15e201 1 7963169 7963486 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2742007,esv2740757,esv2743430,esv2741974,esv2741890 M 96 0 6 "" SSM031,SSM072,SSM075,SSM076,SSM080,SSM089 esv259866 1 7973096 7973642 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 7973170 8244145 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 esv2678721 1 7975392 7978304 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5580510 S 1151 0 1 TNFRSF9 HG00159 esv2743452 1 8002070 8002379 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6941775 S 96 0 1 TNFRSF9 SSM023 nsv1521 1 8014239 8047493 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2406 S 9 1 0 PARK7 NA18555 esv2403277 1 8050410 8050769 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650492 S 1 0 1 "" NA18507 esv6796 1 8086953 8087016 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29237 S 1 1 0 "" SJK nsv528132 1 8145294 8147157 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704677 S 2026 0 1 "" esv2661294 1 8147356 8147708 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5647987,essv5434164 M 1151 0 2 "" HG00512,HG00524 esv2672911 1 8182406 8190875 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6383717,essv6161910,essv5603109,essv6042179,essv5663474,essv5795918,essv5851511,essv5467236,essv5471431 M 1151 0 9 "" NA19107,NA19213,NA19373,NA19437,NA19471,NA19472,NA19664,NA19701,NA19704 esv25059 1 8182444 8191375 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14504 S 451 0 2 "" NA07045,NA19108 esv2421513 1 8182462 8189854 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip 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 8182584 8189285 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2660395 1 8185330 8186291 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5581631 S 1151 0 1 "" NA18534 nsv831870 1 8203407 8354157 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 8204084 8211127 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10444 S 451 3 0 "" NA11931,NA12004,NA12239 nsv441679 1 8206130 8209321 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv23800 1 8216828 8240818 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15760 S 451 1 0 "" NA12156 nsv1632 1 8238409 8283574 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7290 S 9 0 1 "" NA12156 esv2673013 1 8247755 8250065 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6425063,essv5590716,essv6127302,essv6234149,essv6386418,essv6455515,essv6532958,essv6226674,essv5459203,essv5869405,essv6250393 M 1151 0 11 "" HG01107,NA18505,NA19107,NA19213,NA19373,NA19374,NA19437,NA19452,NA19471,NA19472,NA19704 esv2676421 1 8283371 8284817 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5545977,essv6512348,essv6575204,essv6544502,essv6274360,essv6375769,essv6534122,essv5636477,essv5753462,essv6240205,essv5754571,essv6358608,essv5904040,essv5779092,essv6489753,essv5884882,essv5900225,essv6150189,essv6406057,essv6264533,essv5704499,essv5412219,essv5850095,essv5687952,essv5429899,essv6218567,essv6198697,essv6464576,essv5865835,essv5780250,essv6498094,essv5495917,essv6426066,essv6210977,essv5510957 M 1151 0 35 "" HG00119,HG00246,HG00275,HG00277,HG00328,HG00513,HG00537,HG00580,HG00613,HG00619,HG00657,HG01060,HG01061,HG01070,HG01171,HG01334,HG01375,NA06989,NA12058,NA18612,NA18910,NA18988,NA19004,NA19058,NA19062,NA19067,NA19070,NA19072,NA19347,NA19684,NA19685,NA19703,NA19719,NA19783,NA20581 esv1547514 1 8336937 8336937 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685454 S 2 1 0 "" HuRef esv2658784 1 8338181 8338947 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5974633 S 1151 0 1 "" NA19371 esv2663055 1 8360239 8364039 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6593461,essv6093244,essv6571256,essv5544793,essv6284524,essv5890810,essv6407017,essv5642347,essv6503910,essv5646640,essv5936414,essv5914197,essv5868670,essv5463476,essv5770868,essv5975382,essv5940148 M 1151 0 17 "" HG01048,HG01101,HG01148,HG01149,HG01351,HG01390,HG01492,HG01494,NA18948,NA19657,NA19664,NA19681,NA19682,NA19717,NA19722,NA19726,NA19732 esv2743463 1 8361234 8361818 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874694,essv6759032,essv6668934,essv6733473,essv6846999,essv6876654,essv6895841,essv6863946,essv6756542,essv6679156 M 96 0 10 "" SSM012,SSM031,SSM033,SSM049,SSM059,SSM061,SSM086,SSM089,SSM092,SSM099 esv2743475 1 8361352 8361590 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668934,essv6895841 M 96 0 2 "" SSM031,SSM099 esv2743486 1 8361491 8361570 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6863946 S 96 0 1 "" SSM089 nsv871164 1 8373208 8436802 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 8377753 8411716 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3033 S 9 1 0 SLC45A1 NA18555 nsv512716 1 8381685 8382557 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625340 S 1 1 0 "" 1 esv2601359 1 8381817 8382614 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225689 S 1 1 0 "" NA18507 nsv516827 1 8390888 8423510 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 8391507 8391507 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006791 S 2 1 0 SLC45A1 HuRef esv2624373 1 8404405 8405339 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304328 S 1 1 0 "" NA18507 esv1162151 1 8404955 8404955 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276612 S 2 1 0 "" HuRef nsv819494 1 8416148 8421431 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 8435579 8435579 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 8446601 8446844 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 8446609 8446931 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 esv2674889 1 8447365 8475544 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5500893 S 1151 0 1 RERE NA19676 nsv524946 1 8455712 8472164 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700963 S 2026 0 1 RERE esv270262 1 8501969 8502320 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 8528279 8528364 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 esv2658508 1 8550246 8551326 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5525731,essv6233344,essv5979257,essv6414719,essv5559262,essv6380234,essv5573556,essv6564525,essv5580820,essv6184313,essv5951206,essv6437544,essv5626398,essv6218155,essv6002612,essv6498976,essv6060066,essv6587455,essv6104798,essv6364724,essv5684596,essv6251894,essv5999450,essv6458320,essv5997657,essv6361968,essv5794451,essv5781398,essv5722851,essv5769185,essv6049526,essv5928864,essv5396045,essv5406895,essv5705056,essv5411462,essv5438161,essv5860653,essv5440404,essv5459792,essv5473287,essv5883424,essv5485459,essv6056060,essv6062960 M 1151 0 45 RERE HG01108,HG01174,HG01350,HG01384,HG01489,NA11931,NA18508,NA18517,NA18593,NA18856,NA18858,NA18870,NA18874,NA18934,NA19093,NA19129,NA19130,NA19147,NA19153,NA19190,NA19197,NA19204,NA19210,NA19235,NA19247,NA19257,NA19311,NA19316,NA19355,NA19371,NA19376,NA19379,NA19398,NA19401,NA19429,NA19434,NA19444,NA19445,NA19457,NA19462,NA19625,NA19682,NA19684,NA19703,NA19835 esv25533 1 8550458 8551722 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11693,esv13828 M 451 0 4 RERE NA18517,NA18858,NA19129,NA19190 nsv159615 1 8577616 8581235 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178193 M 24 RERE nsv826919 1 8671390 8673970 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423363 S 31 1 0 RERE NA18968 esv26500 1 8671618 8685734 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13894,esv17365,esv15623,esv10195 M 451 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 8674560 8685010 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435647 S 31 0 1 RERE NA18566 esv2743497 1 8705665 8706618 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6967919,essv6946482,essv6916596,essv6972324,essv6769508,essv6954728,essv6773428,essv6668935,essv6921704,essv6950139,essv6910032,essv6824972,essv6738800,essv6950541,essv6721997,essv6832590,essv6847000,essv6876665,essv6780859,essv6689251,essv6917414,essv6699591,essv6789142,essv6729611,essv6902523,essv6748220,essv6784985,essv6853223,essv6714231,essv6692752,essv6679157,essv6793273 M 96 0 32 RERE SSM003,SSM004,SSM008,SSM012,SSM013,SSM015,SSM017,SSM018,SSM024,SSM025,SSM026,SSM028,SSM029,SSM031,SSM033,SSM036,SSM037,SSM039,SSM043,SSM045,SSM047,SSM052,SSM065,SSM066,SSM068,SSM069,SSM070,SSM071,SSM080,SSM082,SSM086,SSM087 esv2743508 1 8705833 8706336 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668935,essv6921704,essv6910032,essv6950139,essv6824972,essv6950541,essv6946482,essv6721997,essv6967919,essv6832590,essv6847000,essv6876665,essv6780859,essv6689251,essv6784985,essv6954728,essv6917414,essv6699591,essv6789142,essv6902523,essv6729611,essv6748220,essv6853223,essv6714231,essv6692752,essv6679157,essv6793273 M 96 0 27 RERE SSM004,SSM008,SSM012,SSM013,SSM015,SSM017,SSM018,SSM024,SSM025,SSM026,SSM028,SSM031,SSM033,SSM036,SSM037,SSM039,SSM043,SSM045,SSM047,SSM068,SSM069,SSM070,SSM071,SSM080,SSM082,SSM086,SSM087 esv2407042 1 8705946 8706370 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792099 S 1 0 1 RERE NA18507 esv27511 1 8715188 8720239 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17675 S 451 2 0 RERE NA15510,NA18861 nsv827141 1 8715751 8719780 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423374 S 31 1 0 RERE NA18968 esv2743519 1 8728615 8729481 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6759033,essv6972325,essv6735969,essv6753485,essv6747766,essv6773429,essv6668936,essv6742128,essv6738801,essv6961541,essv6776928,essv6847001,essv6876676,essv6954730,essv6859177,essv6714233 M 96 0 16 RERE SSM012,SSM026,SSM027,SSM029,SSM031,SSM043,SSM050,SSM052,SSM053,SSM056,SSM058,SSM061,SSM066,SSM067,SSM086,SSM088 esv2384996 1 8728829 8729270 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771378 S 1 0 1 RERE NA18507 esv2743530 1 8728882 8729237 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6776928,essv6668936,essv6961541,essv6847001,essv6954730,essv6859177 M 96 0 6 RERE SSM026,SSM027,SSM031,SSM067,SSM086,SSM088 esv2743541 1 8728984 8729140 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668936,essv6961541,essv6847001,essv6954730,essv6859177 M 96 0 5 RERE SSM026,SSM027,SSM031,SSM086,SSM088 esv2743552 1 8729027 8729101 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961541,essv6954730,essv6847001,essv6859177 M 96 0 4 RERE SSM026,SSM027,SSM086,SSM088 nsv871184 1 8738937 8839300 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 8738937 8891125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598966 S 6533 0 1 RERE IS41113 nsv483143 1 8746272 8890240 CNV Gain Iafrate et al 2004 15286789 BAC_aCGH,FISH Spectral Genomics 2600 BAC array nssv650735 M 0 1 0 Twenty samples were obtained from normal individuals whose DNA are stored at the Coriell Cell Repository (Camden, New Jersey) with the following ethnic representation: 10 European/Caucasian, 4 Native American, 2 Chinese, 2 Indo-Pakistani, and 2 Sub-Saharan African. Twelve samples were from fixed cell pellets of cytogenetically normal individuals from the Brigham and Women's Cytogenetics Laboratory and 7 samples from cytogenetically normal individuals were obtained from the Hospital for Sick Children. RERE esv25426 1 8766443 8774912 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17965 S 451 0 1 RERE NA18508 nsv871694 1 8795551 9066695 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 8822364 8916517 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 8826155 8859690 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7349 S 9 1 0 RERE NA12156 dgv16e1 1 8888241 8916640 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv482,essv9828 M 271 0 0 "" NA18863 nsv871026 1 8920712 8975974 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 esv2670913 1 8976892 8978092 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6311641,essv5746434 M 1151 0 2 "" HG01108,NA18523 nsv527110 1 8991141 8991873 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703492 S 2026 0 1 "" nsv1965 1 9003738 9007657 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3239 S 9 1 0 CA6 NA12878 nsv516097 1 9009406 9011722 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671111,nssv692368,nssv669183,nssv660728,nssv671439,nssv666175,nssv660321,nssv671923,nssv660579 M 2026 0 9 CA6 nsv871338 1 9030964 9056769 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 9039022 9049872 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702688 S 2026 0 1 "" nsv871609 1 9045405 9068020 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 9058546 9080966 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538732 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC2A7 HGDP00806 nsv525092 1 9058546 9080966 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701151 S 2026 1 0 SLC2A7 nsv462727 1 9080411 9133056 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538823 S 1557 0 1 SLC2A5,SLC2A7 1780854205_A esv2669366 1 9090088 9090675 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5573944,essv5962881 M 1151 0 2 "" NA19257,NA19469 nsv831981 1 9091717 9247567 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442663 S 95 0 1 GPR157,MIR34A,SLC2A5 esv1504235 1 9113520 9113520 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665009 S 2 1 0 SLC2A5 HuRef esv1740239 1 9113555 9113555 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265262 S 2 1 0 SLC2A5 HuRef nsv512717 1 9120955 9121796 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625341 S 1 1 0 SLC2A5 1 esv2674776 1 9134123 9136941 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6263075,essv5464964 M 1151 0 2 "" HG01137,NA11919 esv2422210 1 9166576 9274632 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161558 S 181 1 0 GPR157,MIR34A ND01701 nsv871145 1 9170878 9218721 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576881 S 6533 0 1 GPR157,MIR34A IS34304 esv2675581 1 9171824 9176317 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6355094 S 1151 0 1 GPR157 NA18983 esv1519481 1 9176244 9176244 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133256 S 2 1 0 GPR157 HuRef nsv832092 1 9186568 9364602 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442674 S 95 0 1 GPR157,H6PD,MIR34A,SPSB1 nsv871755 1 9245572 9315847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509721 S 6533 0 1 H6PD SP54956 esv2677452 1 9288597 9290878 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5621555 S 1151 0 1 "" NA07037 esv2743563 1 9310369 9310494 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6718159 S 96 0 1 H6PD SSM044 dgv2e55 1 9315847 9404693 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750846,esv2750843,esv2750844 M 771 3 0 H6PD,SPSB1 BEC_287,BEC_670,SPC_192 esv23318 1 9317806 9321226 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16429 S 451 0 1 H6PD NA12749 dgv131n71 1 9318401 9406979 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 9318401 9412408 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 9321241 9396660 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 9327413 9389218 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980777,essv6985406 M 771 1 0 H6PD,SPSB1 BEC_149 nsv870719 1 9349938 9441040 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558407 S 6533 1 0 SPSB1 MS23257 esv2743574 1 9358411 9358475 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668937 S 96 0 1 SPSB1 SSM031 esv2743586 1 9358438 9358566 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6793274 S 96 0 1 SPSB1 SSM071 esv2201511 1 9369979 9370402 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737746 S 1 0 1 SPSB1 NA18507 esv1000068 1 9370131 9370131 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 9371099 9431223 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871319,nsv871027 M 6533 0 2 SPSB1 MS10311,MS17208 nsv871098 1 9371099 9469114 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 9377864 9413646 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540129 S 1557 0 1 SPSB1 1780854065_A nsv827253 1 9431355 9432029 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431791 S 31 0 1 "" AK20 esv2616653 1 9439330 9441001 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231075 S 1 0 1 "" NA18507 esv2203424 1 9439900 9440552 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643328 S 1 0 1 "" NA18507 esv2671551 1 9439964 9440516 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6310252,essv5920208,essv6081254,essv5565537,essv6306689,essv6215876,essv5675200,essv6387779,essv5617422,essv5886599,essv6584703,essv5803169,essv6360424,essv6217017,essv5835426,essv5936819,essv5769749,essv6383000,essv6064542,essv6192437 M 1151 0 20 "" HG00638,HG00731,HG01342,HG01551,NA18504,NA18516,NA18871,NA19099,NA19172,NA19350,NA19379,NA19391,NA19396,NA19397,NA19399,NA19448,NA19472,NA19625,NA19684,NA20334 esv2661068 1 9453863 9456551 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6347520 S 1151 0 1 "" NA18530 esv2443842 1 9470413 9471232 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170213 S 1 1 0 "" NA18507 esv2667953 1 9495942 9497542 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5632014 S 1151 0 1 "" NA12763 nsv517755 1 9514846 9539693 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 "" esv2743597 1 9538089 9538516 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6828993 S 96 0 1 "" SSM081 esv2476310 1 9593578 9600139 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297378 S 1 0 1 SLC25A33 NA18507 esv2670448 1 9593845 9597892 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5969464,essv6060563,essv6119124,essv6150008,essv5533540,essv5539365,essv6529781,essv5542328,essv5721976,essv6577990,essv5556714,essv5559191,essv5883044,essv6291725,essv6074107,essv6590645,essv5643099,essv5925442,essv6592655,essv5675858,essv5899867,essv6300000,essv6479954,essv6075149,essv6316201,essv6094129,essv5805037,essv6291603,essv5413732,essv5724018,essv6388632,essv5860346,essv6304955,essv5863264,essv6455016,essv6352603,essv5924076,essv6578697,essv5959669 M 1151 0 39 "" NA19313,NA19316,NA19318,NA19319,NA19331,NA19334,NA19347,NA19355,NA19371,NA19372,NA19375,NA19376,NA19382,NA19383,NA19385,NA19391,NA19393,NA19395,NA19404,NA19429,NA19430,NA19431,NA19434,NA19436,NA19438,NA19443,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19463,NA19466,NA19467,NA19468,NA19470,NA19471,NA19473 esv2577357 1 9594904 9598296 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368321 S 1 0 1 "" NA18507 esv2743608 1 9595457 9597665 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6910033,essv6916607,essv6874695,essv6759034,essv6816654,essv6744927,essv6742129,essv6750588,essv6937670,essv6721998,essv6733474,essv6784488,essv6764149,essv6761846,essv6748231,essv6756544,essv6679158,essv6714234,essv6718832,essv6718821 M 96 0 19 "" SSM003,SSM007,SSM008,SSM009,SSM010,SSM015,SSM022,SSM033,SSM043,SSM045,SSM049,SSM053,SSM055,SSM057,SSM059,SSM061,SSM062,SSM063,SSM092 esv2666637 1 9595612 9597666 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6419394,essv5748588,essv6561264,essv5521458,essv6597098,essv5524302,essv6510724,essv5524841,essv6541409,essv5526813,essv6556181,essv5527703,essv6467205,essv5528227,essv6591424,essv5673208,essv6563175,essv5750620,essv6496599,essv6305789,essv6542241,essv6238842,essv6489236,essv5747117,essv6587994,essv5546164,essv6564173,essv5550012,essv6538085,essv5997424,essv6464974,essv5559182,essv6501221,essv6060597,essv6443580,essv6213567,essv6520532,essv6274153,essv6525440,essv6153640,essv6473109,essv5898392,essv6528203,essv5761664,essv6475668,essv5572624,essv6487294,essv5573133,essv6438640,essv5578756,essv6473056,essv5579610,essv6545500,essv5996627,essv6414978,essv5585645,essv6481306,essv5588201,essv6416876,essv5992767,essv6587272,essv5590412,essv6520259,essv6017923,essv6547728,essv5599325,essv6455193,essv5599356,essv6579350,essv5725552,essv6024779,essv5979472,essv5948513,essv6373430,essv5611294,essv5612888,essv6012734,essv6159056,essv5617752,essv6336274,essv5621312,essv5624447,essv5729759,essv6293735,essv6023935,essv5629956,essv5639628,essv5644461,essv5726125,essv5646574,essv6117717,essv6156214,essv5656239,essv5949081,essv5916025,essv6055603,essv5928034,essv6165464,essv5995200,essv6187086,essv6049171,essv6230142,essv5757075,essv5703400,essv6144493,essv5956608,essv5923143,essv5807091,essv5983730,essv5906162,essv5978811,essv5904380,essv6060052,essv6069973,essv5792062,essv5969273,essv6368599,essv6319968,essv6369639,essv5712137,essv6362657,essv5700797,essv5914429,essv6340793,essv6020131,essv6077547,essv6010936,essv6363620,essv6084655,essv6039710,essv6039895,essv5706065,essv5817852,essv5401906,essv5402926,essv5676778,essv6375360,essv5699651,essv5673031,essv6295407,essv5412360,essv6405803,essv5851346,essv6341641,essv5424861,essv6352752,essv6373691,essv5855300,essv6260032,essv5431428,essv5854863,essv5693721,essv6285075,essv5855519,essv6264189,essv5441131,essv5442803,essv6246538,essv6042370,essv6071094,essv5863475,essv6120919,essv5745120,essv5454005,essv6054306,essv5457282,essv6135014,essv6080202,essv5459265,essv5869329,essv5460453,essv6332118,essv5462748,essv6216034,essv5466430,essv5477603,essv5683474,essv6114540,essv6217789,essv6082670,essv5487347,essv5809168,essv5499670,essv5914542,essv5500317,essv5993111,essv6380723,essv5876905,essv5503240,essv6358998,essv6016837,essv5507614,essv5508025,essv5509662,essv6149150,essv5513388,essv5833999 M 1151 0 197 "" HG00114,HG00116,HG00126,HG00131,HG00156,HG00159,HG00180,HG00182,HG00183,HG00186,HG00190,HG00237,HG00245,HG00249,HG00259,HG00266,HG00269,HG00271,HG00276,HG00280,HG00281,HG00313,HG00315,HG00320,HG00323,HG00325,HG00326,HG00329,HG00337,HG00373,HG00403,HG00418,HG00421,HG00436,HG00437,HG00448,HG00449,HG00464,HG00525,HG00531,HG00536,HG00559,HG00560,HG00589,HG00596,HG00611,HG00613,HG00620,HG00625,HG00626,HG00628,HG00629,HG00637,HG00651,HG00654,HG00656,HG00671,HG00689,HG00699,HG00701,HG01079,HG01101,HG01124,HG01197,HG01465,HG01488,NA07048,NA11843,NA11930,NA12249,NA12275,NA12889,NA18489,NA18498,NA18516,NA18520,NA18522,NA18530,NA18534,NA18535,NA18559,NA18560,NA18564,NA18567,NA18574,NA18579,NA18596,NA18597,NA18602,NA18603,NA18606,NA18617,NA18618,NA18622,NA18623,NA18626,NA18627,NA18628,NA18630,NA18631,NA18867,NA18874,NA18910,NA18950,NA18959,NA18980,NA18999,NA19003,NA19004,NA19007,NA19054,NA19056,NA19058,NA19062,NA19063,NA19064,NA19067,NA19082,NA19085,NA19130,NA19138,NA19213,NA19247,NA19248,NA19256,NA19316,NA19318,NA19319,NA19321,NA19324,NA19328,NA19331,NA19334,NA19350,NA19372,NA19376,NA19380,NA19383,NA19385,NA19390,NA19391,NA19393,NA19394,NA19395,NA19398,NA19404,NA19430,NA19436,NA19446,NA19448,NA19456,NA19463,NA19471,NA19472,NA19654,NA19655,NA19657,NA19663,NA19679,NA19681,NA19682,NA19684,NA19703,NA19707,NA19711,NA19717,NA19719,NA19723,NA19726,NA19731,NA19749,NA19777,NA19818,NA19819,NA19835,NA19900,NA19901,NA19916,NA19920,NA19982,NA20276,NA20282,NA20317,NA20340,NA20341,NA20508,NA20509,NA20522,NA20530,NA20586,NA20753,NA20758,NA20761,NA20785,NA20802,NA20816,NA20819 esv28451 1 9596173 9597928 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15031,esv11914 M 451 0 5 "" NA18505,NA18907,NA19147,NA19190,NA19257 nsv2076 1 9597218 9631433 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3078 S 9 1 0 SLC25A33 NA18555 esv2658500 1 9603985 9608653 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5603879 S 1151 0 1 SLC25A33 NA19725 esv2660900 1 9620053 9622149 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5875165 S 1151 0 1 SLC25A33 HG01351 nsv871521 1 9640291 9666364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510639 S 6533 0 1 SLC25A33,TMEM201 SP54988 esv2743619 1 9652507 9652933 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6950542,essv6929053 M 96 0 2 TMEM201 SSM020,SSM025 nsv871610 1 9655795 10008221 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 9667296 9693750 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 9672195 9738889 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 9684008 9685520 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 9726632 9860209 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442685 S 95 0 1 CLSTN1,PIK3CD esv259473 1 9740250 9740665 OTHER Complex 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 9762596 9766108 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178729 M 24 PIK3CD esv2662594 1 9817083 9817546 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6053227,essv6434280,essv5605258,essv6552130 M 1151 0 4 CLSTN1 HG00133,HG00319,HG01072,NA11893 esv2656500 1 9822241 9825839 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6302894 S 1151 0 1 CLSTN1 HG00419 nsv827364 1 9822732 9825197 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431975 S 31 0 1 CLSTN1 NA18972 nsv2298 1 9826286 9857487 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10302 S 9 0 1 CLSTN1 NA18956 esv2743630 1 9846472 9856680 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6816665,essv6738802,essv6972326,essv6747767,essv6742130,essv6961542,essv6766533,essv6698597,essv6876687,essv6913992,essv6816573,essv6748242,essv6804396,essv6679159,essv6714235 M 96 0 15 CLSTN1 SSM001,SSM008,SSM010,SSM012,SSM016,SSM027,SSM029,SSM033,SSM043,SSM052,SSM053,SSM056,SSM064,SSM074,SSM078 dgv11n67 1 9846555 9857371 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827475,nsv827586,nsv827697 M 31 0 4 CLSTN1 NA18526,NA18564,NA18570,NA18949 nsv498662 1 9846650 9856696 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585382 S 9 0 1 CLSTN1 esv2669918 1 9846654 9856699 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6597647,essv5819439,essv5521177,essv6204173,essv5530245,essv5888817,essv6023646,essv5548943,essv5893909,essv5549078,essv5893923,essv5731939,essv6015122,essv6563862,essv6404227,essv6071153,essv6235297,essv5617550,essv5628746,essv6221622,essv6481244,essv5931310,essv5845659,essv5714073,essv6161342,essv5839652,essv5830820,essv5789363,essv6003916,essv5811060,essv5923115,essv5834532,essv6393642,essv5834659,essv5746601,essv5825339,essv6020100,essv6373017,essv6207730,essv6349005,essv6452807,essv6112364,essv5424404,essv5432791,essv6265102,essv5440005,essv5451602,essv5455284,essv5462473,essv6069091,essv6321976,essv6368303,essv6204692,essv5988798,essv6457439,essv5990582,essv6349803,essv6384429,essv5505390,essv5900305,essv5926048,essv5512061 M 1151 0 62 CLSTN1 HG00171,HG00353,HG00422,HG00449,HG00501,HG00513,HG00533,HG00536,HG00537,HG00559,HG00560,HG00592,HG00614,HG00628,HG00629,HG00651,HG00654,HG00672,HG00683,HG00684,HG00689,HG00699,HG00707,HG01048,HG01101,HG01360,HG01462,HG01495,NA18530,NA18548,NA18550,NA18558,NA18572,NA18576,NA18611,NA18619,NA18620,NA18622,NA18623,NA18624,NA18635,NA18636,NA19010,NA19054,NA19060,NA19066,NA19072,NA19074,NA19079,NA19080,NA19083,NA19085,NA19088,NA19371,NA19443,NA19657,NA19664,NA19681,NA19682,NA19723,NA19731,NA19777 esv2669984 1 9870710 9873100 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6394000 S 1151 0 1 CLSTN1 NA20810 nsv871146 1 9897001 9951288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530414 S 6533 0 1 CTNNBIP1 MS10311 esv2676301 1 9975537 9980263 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6535570 S 1151 0 1 "" HG00607 esv2667343 1 10052695 10063265 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6049608 S 1151 0 1 RBP7 HG01366 esv2671412 1 10067122 10068790 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5525821,essv6220396 M 1151 0 2 RBP7 NA19818,NA19835 esv2664618 1 10067981 10072312 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5774562 S 1151 0 1 RBP7 HG00641 nsv527217 1 10093457 10257167 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703617 S 2026 1 0 UBE4B dgv12e199 1 10095936 10103825 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2671667,esv2663179 M 1151 0 2 UBE4B HG00139,NA11892 nsv522629 1 10125765 10239197 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706027 S 2026 1 0 UBE4B esv2668231 1 10195645 10196153 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6497289,essv6424150,essv6585488,essv6380147,essv6078091,essv6392345,essv6203017,essv5905869,essv5651943,essv6164323,essv5668584,essv6120065,essv5671433,essv5937528,essv5749006,essv6385363,essv6456159,essv5784275,essv6159229,essv5914513,essv6165979 M 1151 0 21 UBE4B HG00428,NA12003,NA12717,NA18488,NA18522,NA18533,NA18563,NA18593,NA18856,NA19004,NA19085,NA19107,NA19189,NA19235,NA19472,NA19473,NA19701,NA19834,NA19982,NA20503,NA20765 nsv525216 1 10195940 10200574 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701302 S 2026 1 0 UBE4B esv2562286 1 10230395 10231752 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304967 S 1 0 1 UBE4B NA18507 dgv17e1 1 10238070 10582554 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10115,esv397,essv15694 M 271 0 0 APITD1,APITD1-CORT,CORT,DFFA,KIF1B,PEX14,PGD,UBE4B NA18912,NA19130 nsv512718 1 10247608 10248075 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625342 S 1 1 0 "" 1 esv2664632 1 10249580 10252126 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6177818,essv6429175,essv5636176,essv6329801,essv6273252,essv6139852,essv6271813,essv5916833,essv6037479,essv6197999,essv6081874,essv5468908,essv5497140,essv6146888,essv6204148 M 1151 0 15 "" HG01140,NA18873,NA19108,NA19116,NA19315,NA19377,NA19449,NA19463,NA19471,NA19474,NA19625,NA19655,NA19700,NA19704,NA19711 esv2743641 1 10334364 10335382 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6950152,essv6753488,essv6759035,essv6972327,essv6742132,essv6916618,essv6895842,essv6773430,essv6921705,essv6821172,essv6668938,essv6784986,essv6750589,essv6937671,essv6735970,essv6950543,essv6784499,essv6847002,essv6738803,essv6876698,essv6780860,essv6871706,essv6913993,essv6954731,essv6764150,essv6729612,essv6707257,essv6748253,essv6853224,essv6692753,essv6714236,essv6710573,essv6696983,essv6925681 M 96 0 34 KIF1B SSM003,SSM004,SSM008,SSM009,SSM012,SSM016,SSM018,SSM019,SSM022,SSM025,SSM026,SSM029,SSM031,SSM037,SSM038,SSM041,SSM042,SSM043,SSM047,SSM050,SSM052,SSM053,SSM057,SSM058,SSM061,SSM063,SSM066,SSM068,SSM069,SSM079,SSM086,SSM087,SSM091,SSM099 esv2743652 1 10334566 10335030 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6895842,essv6773430,essv6821172,essv6668938,essv6784986,essv6937671,essv6950543,essv6784499,essv6950152,essv6780860,essv6876698,essv6847002,essv6871706,essv6954731,essv6913993,essv6707257,essv6729612,essv6748253,essv6853224,essv6692753,essv6710573,essv6714236,essv6925681,essv6696983 M 96 0 24 KIF1B SSM004,SSM008,SSM009,SSM012,SSM016,SSM019,SSM022,SSM025,SSM026,SSM031,SSM037,SSM038,SSM041,SSM042,SSM043,SSM047,SSM066,SSM068,SSM069,SSM079,SSM086,SSM087,SSM091,SSM099 esv4531 1 10334704 10334932 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26972 S 1 0 1 Single Asian sample YH KIF1B YH esv2550823 1 10351979 10353263 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364930 S 1 0 1 KIF1B NA18507 nsv2409 1 10366090 10388236 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3425 S 9 1 0 KIF1B NA12878 dgv1n17 1 10366487 10387704 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437201,nsv437200 M 60 0 2 KIF1B NA18500,NA18914 nsv436146 1 10368866 10379009 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466361 S 2 0 1 Samples from several populations that are part of the HapMap project. KIF1B NA18505 nsv8102 1 10368970 10378846 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26900,nssv26885,nssv24611 M 31 0 3 Samples from several populations that are part of the HapMap project. KIF1B NA18502,NA18853,NA19132 esv23835 1 10369418 10378885 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12065 S 451 0 4 KIF1B NA18502,NA18505,NA18508,NA18861 esv2657507 1 10369469 10378666 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6579722,essv5788710,essv6142163,essv6032068,essv6365915,essv5958414,essv6232622,essv5621291,essv6351408,essv6049359,essv6523702,essv5703986,essv6197273,essv5408544,essv6470107,essv5415425,essv6391440,essv5686174,essv6304472,essv6438243,essv6575060,essv6409473,essv6440119,essv6497190,essv6457207,essv6315385,essv6334780 M 1151 0 27 KIF1B NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18867,NA18868,NA18908,NA18912,NA19130,NA19213,NA19235,NA19238,NA19248,NA19355,NA19359,NA19374,NA19395,NA19434,NA19444,NA19452,NA19461,NA19664,NA19703,NA19707,NA19819 esv2421759 1 10369546 10377983 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip 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 10370312 10373503 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 10370312 10373503 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 10370541 10377983 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIF1B nsv513981 1 10370854 10377962 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627018 S 1414 0 1 KIF1B nsv437970 1 10375179 10378416 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467963,nssv471534,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 10449443 10582554 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. APITD1,APITD1-CORT,CORT,DFFA,PEX14,PGD NA18965 nsv8213 1 10450914 10460439 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28055 S 31 1 0 Samples from several populations that are part of the HapMap project. PGD NA19221 esv1010529 1 10476195 10478586 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 10481597 10484645 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 10482243 10483797 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626314 S 1 0 1 "" 1 dgv12n67 1 10482342 10483642 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827808,nsv827919 M 31 0 11 "" AK12,AK16,AK20,AK4,NA18526,NA18552,NA18564,NA18951,NA18968,NA18972,NA18997 esv2743663 1 10482434 10483755 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6759036,essv6753489,essv6784510,essv6761847,essv6738804,essv6972329,essv6925682,essv6916629,essv6797440,essv6950163,essv6773432,essv6921708,essv6821173,essv6668939,essv6898605,essv6784988,essv6666887,essv6950544,essv6888998,essv6824973,essv6735971,essv6832591,essv6766534,essv6780861,essv6876710,essv6847003,essv6892312,essv6871707,essv6954732,essv6880414,essv6810335,essv6729613,essv6764151,essv6748265,essv6695610,essv6710574,essv6853225,essv6863947,essv6707258,essv6692755,essv6714237 M 96 0 41 "" SSM003,SSM004,SSM006,SSM008,SSM009,SSM012,SSM018,SSM019,SSM025,SSM026,SSM029,SSM030,SSM031,SSM037,SSM041,SSM042,SSM043,SSM047,SSM050,SSM052,SSM058,SSM061,SSM062,SSM063,SSM064,SSM066,SSM068,SSM069,SSM072,SSM076,SSM079,SSM080,SSM082,SSM086,SSM087,SSM089,SSM091,SSM094,SSM097,SSM098,SSM100 esv3677 1 10482452 10483948 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26118 S 1 0 1 Single Asian sample YH "" YH esv7749 1 10482474 10483805 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30190 S 1 0 1 "" SJK esv2663489 1 10482480 10483779 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6309772,essv5954026,essv6466577,essv5889982,essv6516351,essv5517230,essv6488949,essv5519520,essv6386072,essv6258737,essv6546067,essv5806211,essv6277663,essv6105838,essv6590902,essv6160005,essv6571216,essv5996660,essv6426186,essv6030917,essv6452805,essv6148345,essv6333904,essv5742081,essv6303824,essv5840040,essv6434552,essv6070115,essv6429246,essv6025880,essv6486985,essv5532963,essv6421742,essv5913085,essv6587142,essv5763701,essv6495342,essv5534987,essv6378574,essv6044459,essv6523588,essv6194148,essv6593522,essv6083833,essv6338142,essv5890037,essv6414679,essv5925061,essv6556918,essv5539171,essv6293727,essv5740519,essv6494633,essv5764037,essv6292755,essv5540041,essv6500997,essv6267519,essv6389924,essv5541688,essv6529147,essv5927889,essv6310438,essv5543246,essv6556368,essv5543320,essv6414817,essv5543603,essv6285295,essv6053302,essv6371106,essv5546296,essv6337533,essv5546486,essv6570399,essv5547098,essv6358679,essv6191498,essv6365430,essv5547251,essv6327385,essv5996708,essv6453178,essv6004934,essv6489166,essv6108804,essv6358420,essv5958737,essv6516379,essv5549458,essv6332771,essv5550187,essv6309345,essv5923578,essv6309428,essv5818762,essv6531876,essv6057148,essv6594872,essv5925116,essv6553649,essv6056143,essv6564821,essv5769734,essv6462889,essv5556330,essv6552600,essv5735132,essv6328463,essv5977358,essv6309362,essv6003496,essv6519788,essv6120754,essv6350388,essv6215283,essv6391680,essv6214972,essv6403618,essv5560994,essv6331455,essv5561822,essv6353822,essv5897439,essv6407585,essv6179259,essv6327097,essv6197783,essv6535993,essv5562999,essv6502984,essv5744022,essv6473890,essv5563739,essv6515464,essv5750389,essv6280195,essv6267855,essv6476226,essv6217647,essv6293177,essv5565916,essv6287583,essv5800240,essv6427340,essv5939677,essv6361074,essv6059667,essv6445551,essv5569218,essv6545437,essv6236164,essv6498652,essv5569875,essv6569221,essv6147076,essv6445052,essv6232460,essv6543375,essv6193031,essv6586677,essv6141541,essv6544988,essv5941406,essv6443242,essv6213237,essv6497903,essv5575062,essv6375135,essv5901531,essv6490899,essv6020882,essv6452751,essv5719048,essv6569641,essv5579039,essv6497445,essv5939054,essv6423986,essv5731253,essv6309160,essv5948908,essv6554602,essv5582559,essv6534045,essv5583001,essv6305814,essv5947983,essv6321185,essv6053369,essv6437789,essv6009955,essv6501231,essv6129820,essv6481054,essv6259705,essv6337532,essv6079804,essv6368159,essv5589516,essv6573138,essv5753476,essv6520415,essv5590662,essv6481416,essv6087820,essv6414038,essv5592256,essv6416506,essv5593008,essv6524660,essv6051497,essv6300912,essv6122210,essv6367831,essv5594797,essv6384101,essv5596653,essv6359688,essv5598583,essv6499481,essv6152646,essv6594078,essv5977891,essv6504427,essv6077186,essv6320926,essv6104344,essv6454078,essv5970585,essv6571552,essv5603262,essv6523322,essv5824742,essv6440924,essv6009953,essv6545964,essv6189972,essv6343041,essv6081132,essv6319525,essv5876249,essv6475246,essv5606002,essv6346495,essv5608394,essv6544578,essv5874310,essv6515930,essv5611588,essv6314037,essv6258207,essv6428644,essv5613652,essv6485389,essv6040525,essv6543572,essv5618775,essv6398498,essv5621102,essv6543000,essv6145681,essv6581097,essv6243382,essv6362631,essv6150102,essv6405500,essv6219375,essv6517634,essv5717506,essv6561262,essv6116949,essv6446701,essv5629542,essv6521001,essv5630483,essv6594866,essv5631944,essv6283296,essv6183826,essv6505315,essv5777485,essv6585838,essv5635493,essv6453959,essv6077962,essv5637092,essv5638334,essv5638395,essv5742989,essv5641017,essv6213143,essv5922226,essv5740974,essv6127169,essv5982711,essv5796161,essv5644499,essv5785639,essv5645642,essv5645970,essv5646061,essv5879659,essv6189780,essv5647922,essv5649150,essv6079544,essv5651394,essv5651614,essv5653298,essv5654749,essv5656121,essv5671844,essv5656451,essv5656514,essv5656853,essv6078400,essv6008032,essv5657531,essv5658131,essv6015757,essv5658801,essv5660052,essv6067284,essv5998238,essv6275055,essv5840246,essv5906683,essv5666496,essv5915555,essv5982784,essv5669670,essv5835608,essv5670783,essv6044242,essv5671132,essv5664015,essv5793370,essv6031469,essv5884041,essv5825384,essv5708184,essv5682527,essv5668324,essv5804173,essv6112411,essv5830822,essv6184452,essv5697031,essv5697149,essv6032337,essv5997646,essv6115867,essv5918987,essv5795097,essv5843789,essv5705105,essv5824442,essv5665611,essv5710567,essv6234767,essv5713434,essv5713930,essv5711377,essv6249263,essv5941868,essv5828447,essv5707178,essv6196780,essv5929896,essv5979944,essv5951749,essv6129891,essv5736515,essv6202139,essv5943111,essv5919934,essv5932189,essv5978278,essv6226514,essv5881601,essv6248810,essv6023097,essv5876716,essv5749291,essv6244164,essv5802169,essv5763210,essv5734741,essv5697864,essv5794107,essv6043683,essv5789398,essv5980067,essv5893598,essv5825425,essv5845475,essv5757823,essv6255756,essv5987641,essv6159821,essv5931203,essv6117719,essv5893636,essv6036188,essv6037557,essv5735105,essv6037609,essv5838191,essv6037170,essv5810798,essv6225457,essv6045572,essv5397699,essv6168883,essv5704183,essv6041397,essv5810237,essv5830286,essv5400210,essv6078013,essv5809466,essv5403355,essv5697238,essv6106920,essv6109890,essv6097611,essv5407871,essv5410129,essv5791150,essv5705603,essv5698538,essv5416365,essv5774239,essv5416517,essv5417192,essv5847871,essv6166291,essv6174947,essv5694687,essv6249189,essv5422972,essv5853140,essv5425326,essv5429067,essv5730685,essv6083572,essv5433824,essv6211683,essv5434620,essv5435569,essv5687924,essv5859131,essv5437468,essv5437854,essv5855374,essv5438740,essv5691195,essv5440001,essv5441198,essv6270351,essv5441304,essv5441444,essv5442777,essv6130087,essv5443727,essv5443914,essv5444810,essv5772119,essv5863418,essv5446149,essv5446394,essv5446927,essv5448203,essv5448258,essv5864135,essv5450041,essv6215221,essv5450198,essv5451033,essv6153607,essv5453084,essv5454111,essv5747055,essv6217325,essv6154050,essv5869050,essv5460769,essv5462182,essv5463208,essv5759580,essv5764814,essv6069441,essv5466963,essv6170202,essv5469932,essv5926985,essv6028426,essv5728353,essv5474499,essv6082660,essv5683878,essv6055665,essv6140873,essv5477948,essv5478376,essv6001004,essv5479877,essv6174976,essv5483100,essv6226442,essv6020925,essv6214864,essv5485971,essv5487149,essv6191903,essv5754412,essv6072585,essv6261410,essv5494257,essv5494449,essv5495818,essv5496640,essv6032975,essv5887286,essv5497871,essv6181556,essv5740371,essv5947020,essv5502310,essv6003335,essv5929071,essv6233420,essv5832601,essv5955204,essv5506622,essv6045770,essv5507226,essv5507327,essv5507435,essv5786285,essv5914562,essv5879605,essv5926047,essv5512109,essv5999646,essv5998544,essv6053762,essv5886197 M 1151 0 549 "" HG00096,HG00112,HG00114,HG00116,HG00118,HG00120,HG00124,HG00126,HG00136,HG00137,HG00151,HG00152,HG00156,HG00158,HG00160,HG00177,HG00180,HG00182,HG00185,HG00187,HG00189,HG00190,HG00232,HG00239,HG00242,HG00244,HG00247,HG00250,HG00251,HG00253,HG00257,HG00262,HG00264,HG00267,HG00268,HG00270,HG00271,HG00273,HG00274,HG00275,HG00276,HG00277,HG00280,HG00281,HG00282,HG00285,HG00306,HG00311,HG00312,HG00313,HG00315,HG00318,HG00320,HG00324,HG00326,HG00328,HG00329,HG00330,HG00334,HG00336,HG00339,HG00344,HG00377,HG00403,HG00404,HG00418,HG00419,HG00427,HG00436,HG00442,HG00443,HG00448,HG00475,HG00476,HG00479,HG00525,HG00531,HG00534,HG00536,HG00543,HG00554,HG00556,HG00557,HG00559,HG00560,HG00565,HG00577,HG00578,HG00581,HG00584,HG00590,HG00592,HG00593,HG00595,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00620,HG00625,HG00626,HG00628,HG00634,HG00635,HG00641,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00663,HG00671,HG00683,HG00684,HG00692,HG00693,HG00699,HG00701,HG00702,HG00704,HG00707,HG00708,HG00732,HG00737,HG01047,HG01048,HG01051,HG01055,HG01060,HG01061,HG01066,HG01069,HG01070,HG01073,HG01075,HG01079,HG01080,HG01082,HG01098,HG01102,HG01107,HG01108,HG01112,HG01124,HG01125,HG01134,HG01136,HG01137,HG01140,HG01148,HG01149,HG01167,HG01171,HG01174,HG01182,HG01187,HG01188,HG01191,HG01197,HG01198,HG01204,HG01250,HG01251,HG01334,HG01350,HG01354,HG01356,HG01357,HG01365,HG01366,HG01374,HG01375,HG01377,HG01378,HG01383,HG01384,HG01390,HG01437,HG01440,HG01441,HG01461,HG01462,HG01492,HG01494,HG01497,HG01498,HG01521,HG01550,HG01551,NA06985,NA06994,NA07000,NA07037,NA07051,NA07056,NA07347,NA07357,NA11829,NA11840,NA11843,NA11919,NA11930,NA11933,NA11992,NA11995,NA12003,NA12004,NA12005,NA12006,NA12045,NA12046,NA12058,NA12144,NA12155,NA12272,NA12273,NA12275,NA12341,NA12347,NA12348,NA12400,NA12414,NA12546,NA12717,NA12748,NA12749,NA12750,NA12751,NA12763,NA12775,NA12776,NA12778,NA12828,NA12829,NA12830,NA12842,NA12843,NA12878,NA12892,NA18486,NA18487,NA18488,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18517,NA18519,NA18522,NA18526,NA18530,NA18533,NA18534,NA18535,NA18538,NA18544,NA18549,NA18550,NA18552,NA18555,NA18558,NA18560,NA18563,NA18564,NA18565,NA18572,NA18577,NA18595,NA18603,NA18610,NA18612,NA18615,NA18617,NA18620,NA18621,NA18624,NA18627,NA18628,NA18630,NA18632,NA18633,NA18634,NA18635,NA18638,NA18853,NA18856,NA18861,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18907,NA18908,NA18909,NA18910,NA18912,NA18916,NA18923,NA18924,NA18933,NA18934,NA18943,NA18948,NA18950,NA18951,NA18956,NA18963,NA18967,NA18968,NA18971,NA18972,NA18975,NA18976,NA18980,NA18983,NA18984,NA18987,NA18989,NA18991,NA19000,NA19004,NA19005,NA19007,NA19012,NA19055,NA19057,NA19060,NA19062,NA19065,NA19067,NA19068,NA19072,NA19075,NA19079,NA19082,NA19085,NA19087,NA19092,NA19093,NA19102,NA19108,NA19114,NA19116,NA19119,NA19129,NA19130,NA19137,NA19138,NA19147,NA19172,NA19190,NA19198,NA19201,NA19207,NA19209,NA19210,NA19213,NA19223,NA19225,NA19235,NA19236,NA19238,NA19248,NA19256,NA19257,NA19311,NA19312,NA19316,NA19317,NA19318,NA19321,NA19324,NA19327,NA19328,NA19338,NA19346,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19377,NA19380,NA19381,NA19383,NA19384,NA19385,NA19390,NA19391,NA19394,NA19395,NA19397,NA19398,NA19401,NA19404,NA19428,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19443,NA19444,NA19445,NA19446,NA19448,NA19452,NA19453,NA19455,NA19457,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19470,NA19472,NA19661,NA19663,NA19664,NA19675,NA19676,NA19678,NA19681,NA19682,NA19685,NA19700,NA19703,NA19707,NA19711,NA19712,NA19713,NA19716,NA19719,NA19720,NA19722,NA19723,NA19725,NA19726,NA19728,NA19731,NA19732,NA19746,NA19747,NA19749,NA19750,NA19755,NA19756,NA19761,NA19762,NA19770,NA19773,NA19774,NA19777,NA19779,NA19782,NA19783,NA19786,NA19818,NA19819,NA19835,NA19908,NA19914,NA19917,NA19920,NA19921,NA19982,NA20126,NA20281,NA20291,NA20294,NA20299,NA20314,NA20317,NA20322,NA20332,NA20334,NA20341,NA20342,NA20346,NA20348,NA20506,NA20510,NA20512,NA20515,NA20518,NA20521,NA20524,NA20525,NA20526,NA20527,NA20530,NA20533,NA20535,NA20536,NA20537,NA20539,NA20544,NA20581,NA20585,NA20586,NA20588,NA20589,NA20753,NA20755,NA20757,NA20758,NA20759,NA20768,NA20769,NA20770,NA20771,NA20774,NA20775,NA20783,NA20786,NA20790,NA20796,NA20797,NA20798,NA20801,NA20802,NA20804,NA20805,NA20806,NA20807,NA20809,NA20810,NA20812,NA20814,NA20818,NA20819,NA20826,NA20828 nsv160262 1 10482481 10483779 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178840 M 24 "" esv26404 1 10482550 10483507 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14503 S 451 0 7 "" NA07037,NA12004,NA12749,NA15510,NA18517,NA18909,NA19129 esv2743674 1 10542585 10549257 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6756545 S 96 0 1 PEX14 SSM059 esv2662921 1 10543553 10545994 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6578484,essv5518392,essv6400559,essv5786737,essv6283446,essv5653749,essv5923144,essv5967521,essv5809170,essv6081180,essv6012579 M 1151 0 11 PEX14 NA18499,NA19138,NA19313,NA19338,NA19347,NA19372,NA19380,NA19399,NA19713,NA20296,NA20317 esv2421360 1 10543836 10545046 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip 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 10553530 10598171 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7460 S 9 0 1 PEX14 NA12156 nsv8435 1 10568184 10572374 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24613 S 31 1 0 Samples from several populations that are part of the HapMap project. PEX14 NA18942 esv2665377 1 10636608 10644047 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6424485,essv5520917,essv6473433,essv6184945,essv6439025,essv5984430,essv6575127,essv6051253,essv5972417,essv5594923,essv5706757,essv6306352,essv6266846,essv5429703,essv6246970 M 1151 0 15 PEX14 HG00531,HG00580,HG00595,HG00610,HG00650,HG00654,HG00692,NA18545,NA18560,NA18574,NA18596,NA18627,NA18631,NA19072,NA19088 esv2743685 1 10636609 10644050 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874696,essv6669155,essv6916640,essv6821174,essv6773433,essv6925683,essv6666889,essv6883252,essv6832592,essv6892313,essv6839962,essv6689252,essv6853226,essv6898606,essv6748276,essv6902524,essv6863948,essv6679160,essv6859178 M 96 0 19 PEX14 SSM003,SSM005,SSM008,SSM013,SSM019,SSM030,SSM033,SSM036,SSM066,SSM079,SSM082,SSM084,SSM087,SSM088,SSM089,SSM092,SSM095,SSM098,SSM100 nsv517464 1 10638604 10643197 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 10638604 10643197 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417173 S 112 0 1 PEX14 NA18550 esv275132 1 10656324 10657912 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586077 S 1250 0 1 PEX14 dgv4n27 1 10673194 10796866 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 10676800 10874152 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84205 S 2 0 1 CASZ1,PEX14 HuRef nsv828030 1 10677562 10795161 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436327 S 31 1 0 CASZ1,PEX14 NA18542 dgv133n71 1 10684098 10757199 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 10684098 10777260 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 10684098 10801585 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 10690948 10757199 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540805 S 1557 0 1 CASZ1 1780862345_A nsv525693 1 10694125 10840905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701852 S 2026 0 1 CASZ1 nsv870849 1 10694125 10894724 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 10695477 10704197 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423940 S 31 1 0 CASZ1 NA18947 nsv828252 1 10697810 10703034 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433409 S 31 1 0 CASZ1 NA18526 nsv828364 1 10697810 10764164 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440798 S 31 1 0 CASZ1 NA18969 nsv436924 1 10704688 10732269 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466805 S 60 0 1 Samples from several populations that are part of the HapMap project. CASZ1 NA10847 nsv871904 1 10704688 10757199 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 10704811 10859919 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 10706091 10717597 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468407,nssv468296 M 269 0 2 Samples from several populations that are part of the HapMap project. CASZ1 NA10847,NA12146 nsv508858 1 10710624 10813210 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619768 S 4 1 0 CASZ1 NA10860 nsv818888 1 10719645 10750432 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417515 S 112 0 1 CASZ1 NA18968 esv2743697 1 10721981 10722585 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6797441,essv6725845,essv6703857,essv6876721,essv6868704,essv6954733,essv6946483,essv6813162,essv6853227,essv6843877,essv6789144,essv6929054,essv6682818,essv6859179,essv6675193,essv6696984,essv6793275 M 96 0 17 CASZ1 SSM012,SSM020,SSM024,SSM026,SSM032,SSM034,SSM038,SSM040,SSM046,SSM070,SSM071,SSM072,SSM077,SSM085,SSM087,SSM088,SSM090 esv997282 1 10731782 10745649 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 10742502 10921155 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 10742502 11055147 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7839,esv239 M 271 0 0 C1orf127,CASZ1 NA18558 nsv8546 1 10752927 10756767 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28027,nssv28926 M 31 2 0 Samples from several populations that are part of the HapMap project. CASZ1 NA07029,NA12740 nsv465172 1 10757199 10796866 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541028 S 1557 0 1 CASZ1 1780862416_A nsv871905 1 10757199 10801585 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 10767902 10815421 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541114 S 1557 0 1 CASZ1 NINDS_198 essv11784 1 10803818 10921155 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CASZ1 NA18504 esv2743708 1 10804026 10805348 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874698,essv6759037,essv6972330,essv6747768,essv6933297,essv6769510,essv6773434,essv6921709,essv6744928,essv6910034,essv6800709,essv6925685,essv6750590,essv6666890,essv6950545,essv6784521,essv6735972,essv6961543,essv6703858,essv6816676,essv6733475,essv6807366,essv6876732,essv6839963,essv6847004,essv6753490,essv6761848,essv6738805,essv6748287,essv6843878,essv6764155,essv6853228,essv6695621,essv6816574,essv6863949,essv6742133,essv6707259,essv6906092,essv6756546,essv6859180,essv6679161,essv6718843 M 96 0 42 CASZ1 SSM002,SSM006,SSM007,SSM008,SSM009,SSM010,SSM012,SSM014,SSM015,SSM018,SSM019,SSM021,SSM025,SSM027,SSM029,SSM030,SSM033,SSM040,SSM041,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM057,SSM058,SSM059,SSM061,SSM062,SSM063,SSM065,SSM066,SSM075,SSM078,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM092 esv2743719 1 10804518 10804667 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6807366,essv6847004,essv6863949,essv6707259,essv6906092,essv6859180 M 96 0 6 CASZ1 SSM014,SSM041,SSM075,SSM086,SSM088,SSM089 dgv136n71 1 10832322 10901994 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871772,nsv870589 M 6533 0 2 CASZ1 MS17208,MS18276 nsv159406 1 10845226 10845226 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177984 M 24 CASZ1 nsv871617 1 10858746 10935232 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543351 S 6533 0 1 "" MS16153 nsv871155 1 10858746 10998509 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558409 S 6533 1 0 "" MS23257 nsv832425 1 10903845 11122975 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442741,nssv1442729 M 95 0 2 C1orf127,MASP2,SRM,TARDBP esv2418090 1 10913373 10913836 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522724 S 1 0 1 "" NA18507 esv2659328 1 10913511 10913622 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6516322,essv5711033 M 1151 0 2 "" HG01389,NA19360 esv27036 1 10951426 10952195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19765 S 451 0 1 "" NA19147 esv2665603 1 10954262 10956128 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6392155,essv6214075,essv6506565,essv5574397,essv6102736,essv6336021 M 1151 0 6 "" HG00257,HG00327,HG00640,HG01047,HG01188,HG01441 nsv516264 1 10983951 10984562 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 10993351 10993742 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340923 S 1 0 1 "" NA18507 nsv508869 1 11016257 11068516 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621082 S 4 1 0 C1orf127 NA15510 esv2672799 1 11037099 11038109 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6152639,essv5983863 M 1151 0 2 C1orf127 HG00159,NA12275 esv1628805 1 11043232 11043969 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981893 S 2 0 1 "" HuRef esv2662381 1 11047366 11047568 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6424915,essv5517160,essv6316945,essv5524322,essv6260030,essv5525040,essv6333252,essv5525759,essv6357302,essv5530106,essv6467569,essv5530612,essv6305333,essv5786227,essv6332073,essv6045511,essv6409136,essv6053161,essv6538800,essv5538199,essv6508160,essv6109622,essv6555945,essv5544517,essv6321049,essv5545353,essv6433432,essv5547299,essv6418784,essv5548051,essv6439577,essv5549122,essv6241958,essv5743147,essv6253209,essv5555386,essv6583201,essv5557476,essv6539405,essv6003015,essv6234478,essv5561746,essv6263141,essv5564829,essv6346694,essv6091590,essv6240799,essv6128419,essv6431577,essv5816499,essv6402208,essv6021875,essv6415869,essv5569369,essv6539880,essv6070651,essv6445439,essv5573327,essv6305653,essv5573427,essv6416147,essv6202367,essv6559022,essv5579407,essv6361865,essv5940305,essv6346323,essv5582376,essv6523698,essv5666478,essv6375908,essv5583520,essv6232497,essv5966696,essv6350427,essv5584705,essv6411635,essv6007818,essv6508632,essv5805915,essv6545229,essv5930700,essv6437321,essv5973037,essv6548431,essv5720584,essv6337611,essv6062839,essv6448967,essv6202839,essv6335635,essv5599018,essv6596570,essv5599961,essv6329390,essv5920462,essv6465606,essv5601699,essv6584690,essv5958889,essv6583916,essv6149338,essv6335154,essv6096098,essv6316900,essv5607976,essv6300077,essv5960148,essv6279130,essv5612890,essv6442607,essv5903998,essv6574670,essv6225298,essv6528587,essv5962033,essv6252506,essv5615971,essv6534157,essv5619379,essv6346110,essv5939117,essv6362235,essv5627126,essv6326493,essv5630354,essv6321461,essv6053443,essv6561520,essv5639999,essv6353241,essv6130655,essv6515497,essv5964103,essv6559648,essv5739901,essv6404905,essv5648267,essv6236434,essv6220218,essv6236805,essv6190650,essv6287952,essv5655334,essv6269166,essv5956916,essv6471514,essv5663133,essv6308605,essv6227774,essv6287316,essv5709547,essv6290449,essv5681928,essv6513314,essv5689219,essv6299525,essv5826318,essv6380770,essv5697224,essv6512722,essv5778207,essv5795829,essv5947430,essv5929512,essv5781072,essv5717658,essv5717769,essv5713743,essv5936736,essv6068969,essv5823600,essv6024297,essv6049273,essv6201977,essv5931041,essv6009754,essv5739593,essv6114765,essv5960330,essv5995402,essv5738792,essv6138378,essv6170651,essv6146736,essv5766577,essv5696708,essv5701236,essv5697634,essv5699324,essv5672754,essv6176945,essv5825190,essv5751467,essv5704840,essv6193841,essv6154630,essv6221787,essv5400161,essv6196104,essv5405619,essv5851900,essv5425046,essv5851731,essv5853157,essv5693266,essv5430063,essv5434105,essv5855547,essv5439128,essv5440880,essv5441133,essv5442154,essv5447251,essv6093483,essv5451468,essv5452933,essv6064408,essv5868341,essv5455746,essv5457022,essv5767747,essv6162208,essv5458362,essv5869025,essv5868985,essv5871565,essv5679130,essv5470616,essv5473452,essv5474614,essv5683765,essv6220755,essv5485064,essv5485570,essv5488718,essv5750022,essv5497467,essv5976608,essv5505243,essv5783768,essv5510919,essv5980281,essv5513511 M 1151 0 244 "" HG00098,HG00103,HG00111,HG00115,HG00116,HG00139,HG00141,HG00145,HG00154,HG00159,HG00176,HG00189,HG00239,HG00249,HG00250,HG00252,HG00268,HG00278,HG00308,HG00310,HG00313,HG00318,HG00324,HG00326,HG00346,HG00353,HG00357,HG00361,HG00368,HG00372,HG00375,HG00419,HG00422,HG00437,HG00442,HG00463,HG00464,HG00478,HG00512,HG00524,HG00551,HG00581,HG00608,HG00637,HG00641,HG00656,HG00683,HG00690,HG00699,HG00732,HG00734,HG00736,HG01051,HG01052,HG01069,HG01082,HG01107,HG01124,HG01134,HG01170,HG01174,HG01177,HG01190,HG01204,HG01251,HG01357,HG01374,HG01377,HG01383,HG01384,HG01455,HG01456,HG01491,HG01522,HG01551,NA07056,NA07346,NA07347,NA07357,NA11920,NA11933,NA11994,NA12045,NA12058,NA12154,NA12155,NA12273,NA12749,NA12763,NA12775,NA12827,NA12829,NA12843,NA18486,NA18489,NA18499,NA18505,NA18510,NA18517,NA18519,NA18523,NA18534,NA18542,NA18543,NA18546,NA18548,NA18564,NA18593,NA18596,NA18602,NA18612,NA18631,NA18632,NA18853,NA18856,NA18867,NA18874,NA18908,NA18916,NA18917,NA18923,NA18924,NA18933,NA18953,NA19058,NA19085,NA19114,NA19116,NA19129,NA19172,NA19189,NA19197,NA19235,NA19236,NA19247,NA19257,NA19312,NA19313,NA19315,NA19319,NA19327,NA19331,NA19332,NA19346,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19375,NA19376,NA19377,NA19380,NA19381,NA19382,NA19383,NA19384,NA19390,NA19391,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19401,NA19403,NA19404,NA19428,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19440,NA19443,NA19448,NA19449,NA19451,NA19453,NA19455,NA19457,NA19461,NA19466,NA19467,NA19472,NA19661,NA19663,NA19664,NA19670,NA19684,NA19703,NA19704,NA19711,NA19712,NA19717,NA19720,NA19759,NA19761,NA19770,NA19788,NA19818,NA19819,NA19834,NA19835,NA19900,NA19901,NA19908,NA19916,NA19920,NA19985,NA20127,NA20276,NA20281,NA20287,NA20317,NA20340,NA20342,NA20344,NA20346,NA20348,NA20356,NA20505,NA20513,NA20516,NA20517,NA20536,NA20581,NA20586,NA20761,NA20766,NA20771,NA20783,NA20786,NA20790,NA20796,NA20797,NA20804,NA20805,NA20813 dgv13e199 1 11054562 11056071 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2657332,esv2665986 M 1151 0 7 "" HG00537,HG00596,NA19350,NA19375,NA19383,NA19776,NA20340 esv2743730 1 11054636 11055761 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6921710,essv6910035,essv6800821,essv6807367,essv6902525,essv6804397 M 96 0 6 "" SSM002,SSM013,SSM015,SSM018,SSM074,SSM075 esv2592186 1 11059704 11063290 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335168 S 1 0 1 "" NA18507 esv2662761 1 11060114 11062306 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6441657,essv5668688,essv6263697,essv5531541,essv6353285,essv5532380,essv6586106,essv5764472,essv6302129,essv5547308,essv6458991,essv6028616,essv6500641,essv6143553,essv6561507,essv6003595,essv6566613,essv5750123,essv6345451,essv6240552,essv6467649,essv5602019,essv6432554,essv5603320,essv6579638,essv5625352,essv6380777,essv5643423,essv6481119,essv5662489,essv6356685,essv5904274,essv5716359,essv6220301,essv5791211,essv6058296,essv6060257,essv5829346,essv6086288,essv5419469,essv6195875,essv6183321,essv5458820,essv5472909,essv5483712,essv5486702,essv5497175 M 1151 0 47 "" HG00638,HG00640,HG01167,NA18489,NA18499,NA18510,NA18603,NA19248,NA19312,NA19346,NA19347,NA19350,NA19355,NA19359,NA19371,NA19375,NA19376,NA19380,NA19382,NA19383,NA19390,NA19396,NA19397,NA19401,NA19403,NA19429,NA19434,NA19437,NA19443,NA19444,NA19445,NA19456,NA19463,NA19466,NA19467,NA19473,NA19700,NA19703,NA19704,NA19711,NA19712,NA19834,NA19835,NA19909,NA19916,NA19982,NA20346 esv23739 1 11060167 11061907 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14228 S 451 0 1 "" NA19190 esv25881 1 11097562 11106051 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13377,esv21307 M 451 2 1 MASP2 NA06985,NA12044,NA19257 esv2660954 1 11097612 11106315 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5962966 S 1151 0 1 MASP2 NA19257 esv2743741 1 11101187 11101447 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668940 S 96 0 1 MASP2 SSM031 dgv137n71 1 11103408 11129848 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870879,nsv870763 M 6533 0 2 EXOSC10,MASP2,SRM SP54725,SP54956 nsv871818 1 11111629 11125050 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 11114940 11129848 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 11212249 11212574 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 esv2658000 1 11230265 11232333 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6345116,essv5587519,essv5944809 M 1151 0 3 MTOR HG01384,NA18868,NA19316 nsv516050 1 11372638 11398365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700989,nssv665889,nssv683456,nssv701963 M 2026 0 4 "" nsv832536 1 11388777 11562341 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442752 S 95 0 1 PTCHD2 esv2672657 1 11412772 11416694 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5625718,essv5407469,essv6274262 M 1151 0 3 "" HG00151,HG00620,NA19082 esv2668404 1 11467158 11473415 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5984928,essv6219838 M 1151 0 2 "" HG01461,NA19657 nsv465394 1 11493832 11520653 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541193 S 1557 0 1 "" 1780854097_A nsv528438 1 11496994 11501431 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705033 S 2026 0 1 "" dgv138n71 1 11531918 11614268 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871576,nsv871842,nsv870530 M 6533 0 3 PTCHD2 IS33684,MS10311,MS16153 nsv2632 1 11537077 11567852 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv298 S 9 1 0 PTCHD2 NA19240 esv2657750 1 11541441 11543200 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6269148 S 1151 0 1 PTCHD2 NA20586 nsv871932 1 11557970 11626858 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 11562347 11669596 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442763 S 95 0 1 PTCHD2 nsv465505 1 11562490 11601119 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541299 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTCHD2 HGDP00857 nsv465727 1 11562490 11626858 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541477 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTCHD2 HGDP00787 nsv470692 1 11575260 11622979 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547697 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTCHD2 HGDP00599 nsv521736 1 11577831 11595331 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694500 S 2026 0 1 PTCHD2 esv2628262 1 11582403 11583169 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205183 S 1 1 0 PTCHD2 NA18507 esv26916 1 11582552 11583022 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13120 S 451 0 1 PTCHD2 NA07045 esv273466 1 11599811 11599943 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 11614268 11626858 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697308 S 2026 0 1 "" esv2570682 1 11682692 11684391 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218562 S 1 0 1 "" NA18507 esv2017403 1 11682714 11683369 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788047 S 1 0 1 "" NA18507 esv3208 1 11682836 11683312 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25649 S 1 0 1 Single Asian sample YH "" YH esv2743752 1 11682864 11683173 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972331,essv6747769,essv6821175,essv6889000,essv6824974,essv6961544,essv6780862,essv6807368,essv6954734,essv6892314,essv6843776,essv6718160,essv6699592,essv6853229,essv6816575,essv6863950,essv6898607,essv6707260,essv6946486,essv6859181,essv6696985 M 96 0 21 "" SSM011,SSM024,SSM026,SSM027,SSM029,SSM038,SSM039,SSM041,SSM044,SSM056,SSM068,SSM075,SSM078,SSM079,SSM080,SSM087,SSM088,SSM089,SSM097,SSM098,SSM100 esv7758 1 11682893 11683184 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30199 S 1 0 1 "" SJK esv2666437 1 11682893 11683189 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6406016,essv6286902,essv6558742,essv5780910,essv6508975,essv5518174,essv6576113,essv5518732,essv6408719,essv5519435,essv6532577,essv5519629,essv6482091,essv5828990,essv6597986,essv5521071,essv6533999,essv5522094,essv6591262,essv5526024,essv6440258,essv6271479,essv6412682,essv6317680,essv6421586,essv6334420,essv6467818,essv6073118,essv6589368,essv5893840,essv6514480,essv5786411,essv6457914,essv6054982,essv6574251,essv6062060,essv6564760,essv5789809,essv6534292,essv6154775,essv6505671,essv5746460,essv6552901,essv6147026,essv6531389,essv5535274,essv6540515,essv5814744,essv6553862,essv6151630,essv6486136,essv5962682,essv6484816,essv5839832,essv6538567,essv6014560,essv6552516,essv5808821,essv6566294,essv6299803,essv6513811,essv5967078,essv6595440,essv5545185,essv6419779,essv6269794,essv6598135,essv6110908,essv6593293,essv5546216,essv6468675,essv5546456,essv6412404,essv6363717,essv6418416,essv6202739,essv6547713,essv5548042,essv6536967,essv5548288,essv6419689,essv5726038,essv6412112,essv6398118,essv6408943,essv6025435,essv6474848,essv5842121,essv6422703,essv6307393,essv6540014,essv6273781,essv6549109,essv6281475,essv6492389,essv5803047,essv6481083,essv5553257,essv6595206,essv5553381,essv6478228,essv6288776,essv6432073,essv6293684,essv6556822,essv5554387,essv6417539,essv5832207,essv6520760,essv6194176,essv6469534,essv5998087,essv6430887,essv6089478,essv6551177,essv6283412,essv6485043,essv6029991,essv6473176,essv5558781,essv6421410,essv5558805,essv6527102,essv6370984,essv6518434,essv6353246,essv6503435,essv6081560,essv6467000,essv5560127,essv6477760,essv6007125,essv6561298,essv5562840,essv6552870,essv6380194,essv6569738,essv5563366,essv6440826,essv5563794,essv6440097,essv5983438,essv6442648,essv5967652,essv6542212,essv6021587,essv6495125,essv6356526,essv6497022,essv6000530,essv6406132,essv5567531,essv6549247,essv5979364,essv6589373,essv5785852,essv6450709,essv6120768,essv6410768,essv5832832,essv6424899,essv5875279,essv6594399,essv5570033,essv6553770,essv5821515,essv6550906,essv6044479,essv6435480,essv5571880,essv6434220,essv6344223,essv6513087,essv5572618,essv6489604,essv5997457,essv6456261,essv6141294,essv6589387,essv5576240,essv6418149,essv6053356,essv6528943,essv6233682,essv6458255,essv5885583,essv6573031,essv5578575,essv6548578,essv6099956,essv6453746,essv6122106,essv6524748,essv5944276,essv6448619,essv5796445,essv6509873,essv6259703,essv6417107,essv5901566,essv6414119,essv5587280,essv6465350,essv5587714,essv6580968,essv6270993,essv6516429,essv6169902,essv6544955,essv5909070,essv6533518,essv6343272,essv5591757,essv5592105,essv5817671,essv6243975,essv5903925,essv5984541,essv5720517,essv5931786,essv5937635,essv6126289,essv6140973,essv5821652,essv5598969,essv6230453,essv5600231,essv6047461,essv5602336,essv6122221,essv6168685,essv5880436,essv6327317,essv6129376,essv6172356,essv5965760,essv6135443,essv6210235,essv5607324,essv6393200,essv6239560,essv5608184,essv5920491,essv5608374,essv6123568,essv5610452,essv6321500,essv6180765,essv6070056,essv5911609,essv5615454,essv5841022,essv5736091,essv5909097,essv5829923,essv6264799,essv5618284,essv5618860,essv5964035,essv6188575,essv6020444,essv5717557,essv5809919,essv5623830,essv5624347,essv6166147,essv6233114,essv5819464,essv5629817,essv5630219,essv6182623,essv6395990,essv6341473,essv5754199,essv5633581,essv6162853,essv5738254,essv5634379,essv5751966,essv5637434,essv6372240,essv5638079,essv5956894,essv6359553,essv5640027,essv6227114,essv5640580,essv5641389,essv5641635,essv5914186,essv5745998,essv6083360,essv6264894,essv5717645,essv5922270,essv5998575,essv5647991,essv5648244,essv6021392,essv5649484,essv5649613,essv6320865,essv5675546,essv5722668,essv6303125,essv6331953,essv6133390,essv5653532,essv6300361,essv6219472,essv5655212,essv5655328,essv5715074,essv5982179,essv5938441,essv6276195,essv6374163,essv6125574,essv5660381,essv6367383,essv5661126,essv5661240,essv6400393,essv6401729,essv6402099,essv6216608,essv6222503,essv6059921,essv5935816,essv5893299,essv5906040,essv5712658,essv5672408,essv6220406,essv6075318,essv5972844,essv6065078,essv6264301,essv6190557,essv6250208,essv6117695,essv5801917,essv6199540,essv5668321,essv6108329,essv6115765,essv5896862,essv5890392,essv6179787,essv5840970,essv5886848,essv6054490,essv5699737,essv6129411,essv5913244,essv6049398,essv5702758,essv6316134,essv6140244,essv6161776,essv5992410,essv5835627,essv5893427,essv6106292,essv6208725,essv6106601,essv5975165,essv6332951,essv6246278,essv6263424,essv5826844,essv6273913,essv5945198,essv5708469,essv6014844,essv6074854,essv5806416,essv6269978,essv5812739,essv5970170,essv5952587,essv5876618,essv6030100,essv6120509,essv5677467,essv6002753,essv5672467,essv6043812,essv5952596,essv6087619,essv6168833,essv5792649,essv6099515,essv6050102,essv6074857,essv5980735,essv6326527,essv5710568,essv6366054,essv5898958,essv5836902,essv5839912,essv6094004,essv5953568,essv5839564,essv6030563,essv6215098,essv6138203,essv5712471,essv5787078,essv5763482,essv5988683,essv6010254,essv5948685,essv6029891,essv6027594,essv5812743,essv5826486,essv5759707,essv6331288,essv5771946,essv5669581,essv5720823,essv6203243,essv5813371,essv5698681,essv5978567,essv6137682,essv5757671,essv6372554,essv6033065,essv6037011,essv6258583,essv6110671,essv6134938,essv5829969,essv6037551,essv5716235,essv6055418,essv6036623,essv6200209,essv6313623,essv6035531,essv6039488,essv5830718,essv6034102,essv5828248,essv6391020,essv6034457,essv5697267,essv5806835,essv5841321,essv6289109,essv5397928,essv5831614,essv5402436,essv5790492,essv5669123,essv6333758,essv5402556,essv5402677,essv6201458,essv5403003,essv6285733,essv5704285,essv5403864,essv5404053,essv5702425,essv5700030,essv5406100,essv6249129,essv6238225,essv5409914,essv6281187,essv5809273,essv6361727,essv6141116,essv5411483,essv6046909,essv6369567,essv5412743,essv5413185,essv5413204,essv5413219,essv5849291,essv5414441,essv5849942,essv5415013,essv6128976,essv6263345,essv5416725,essv5416869,essv5852880,essv5417311,essv6243536,essv5417790,essv5418566,essv5744098,essv5687759,essv6113754,essv5852049,essv5421515,essv6112283,essv5424169,essv6381031,essv5425436,essv6131404,essv5850582,essv6186395,essv6331013,essv5427571,essv5859984,essv5427728,essv6249441,essv5428741,essv6104142,essv6207467,essv5775396,essv5431043,essv5432100,essv5856084,essv5857681,essv5858473,essv5433723,essv6040668,essv6096230,essv6171737,essv5690804,essv5775881,essv5436923,essv5437540,essv6209742,essv5857315,essv5438767,essv5860658,essv5440793,essv5738166,essv5442130,essv5442575,essv6265236,essv5861863,essv5442867,essv5864520,essv6319235,essv5863584,essv5444378,essv6152051,essv5444787,essv6189940,essv5865704,essv5867787,essv6204806,essv5773476,essv5446220,essv6353139,essv5446954,essv6225523,essv5695351,essv6100086,essv6128141,essv5452322,essv5452506,essv5452850,essv5453023,essv5867321,essv5863747,essv5454821,essv5454923,essv5868148,essv5686746,essv5458329,essv5458974,essv5459106,essv5459968,essv6367458,essv5460156,essv5868909,essv6363642,essv5460733,essv5461171,essv5869666,essv5686442,essv5462411,essv5462858,essv6392714,essv6084532,essv6140282,essv6126389,essv5467969,essv5741317,essv6175490,essv5711549,essv6265147,essv5684094,essv5473688,essv5474424,essv6329357,essv5474613,essv5894807,essv6134335,essv5475863,essv5475868,essv5476617,essv5683620,essv5477271,essv6380675,essv6063177,essv5744650,essv5479145,essv5479209,essv5479222,essv5479282,essv6364857,essv5945843,essv5479690,essv6274056,essv6108631,essv5685573,essv6279042,essv5761758,essv5724992,essv5482260,essv5482552,essv5483785,essv6017111,essv5485265,essv6050319,essv6116320,essv6097913,essv6135668,essv5489416,essv5493210,essv6330776,essv5494636,essv5496612,essv6176660,essv5980228,essv5498125,essv5906980,essv5499440,essv6052328,essv5500632,essv6098539,essv5962321,essv5503921,essv6346521,essv6370000,essv6384433,essv6069127,essv5507007,essv5923301,essv5972969,essv5737455,essv6014220,essv5772619,essv5511046,essv6180585,essv6270635,essv5770088,essv6022514,essv6065167,essv5836145,essv5514123 M 1151 0 663 "" HG00096,HG00098,HG00100,HG00106,HG00108,HG00111,HG00114,HG00115,HG00117,HG00118,HG00119,HG00120,HG00122,HG00123,HG00125,HG00126,HG00127,HG00131,HG00133,HG00136,HG00137,HG00138,HG00139,HG00140,HG00141,HG00142,HG00143,HG00145,HG00147,HG00148,HG00150,HG00151,HG00152,HG00154,HG00155,HG00156,HG00157,HG00158,HG00159,HG00160,HG00171,HG00173,HG00174,HG00176,HG00177,HG00178,HG00179,HG00180,HG00181,HG00182,HG00183,HG00185,HG00186,HG00187,HG00188,HG00189,HG00190,HG00231,HG00232,HG00233,HG00236,HG00237,HG00239,HG00243,HG00244,HG00245,HG00246,HG00247,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00260,HG00262,HG00263,HG00264,HG00265,HG00266,HG00267,HG00268,HG00269,HG00270,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00309,HG00310,HG00311,HG00312,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00324,HG00325,HG00326,HG00327,HG00328,HG00329,HG00330,HG00331,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00345,HG00346,HG00353,HG00357,HG00361,HG00366,HG00367,HG00368,HG00369,HG00372,HG00373,HG00375,HG00377,HG00404,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00443,HG00448,HG00449,HG00464,HG00472,HG00473,HG00476,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00537,HG00551,HG00553,HG00554,HG00557,HG00559,HG00565,HG00566,HG00580,HG00581,HG00583,HG00584,HG00589,HG00607,HG00608,HG00611,HG00614,HG00620,HG00625,HG00628,HG00634,HG00635,HG00637,HG00638,HG00640,HG00641,HG00650,HG00654,HG00656,HG00657,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00699,HG00704,HG00705,HG00707,HG00708,HG00731,HG00732,HG00734,HG00736,HG00737,HG00739,HG00740,HG01047,HG01048,HG01051,HG01052,HG01055,HG01060,HG01061,HG01066,HG01067,HG01069,HG01070,HG01072,HG01073,HG01075,HG01080,HG01082,HG01095,HG01097,HG01098,HG01101,HG01102,HG01124,HG01125,HG01133,HG01136,HG01137,HG01167,HG01168,HG01170,HG01171,HG01173,HG01174,HG01176,HG01177,HG01183,HG01187,HG01188,HG01190,HG01191,HG01197,HG01198,HG01204,HG01251,HG01334,HG01342,HG01350,HG01351,HG01354,HG01359,HG01365,HG01366,HG01374,HG01375,HG01377,HG01378,HG01383,HG01389,HG01390,HG01437,HG01440,HG01441,HG01455,HG01456,HG01461,HG01462,HG01488,HG01489,HG01492,HG01497,HG01515,HG01516,HG01518,HG01519,HG01521,HG01522,NA06984,NA06985,NA06986,NA06989,NA07000,NA07037,NA07048,NA07051,NA07056,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11832,NA11843,NA11881,NA11892,NA11893,NA11894,NA11919,NA11920,NA11930,NA11931,NA11932,NA11933,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12046,NA12058,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12340,NA12341,NA12342,NA12347,NA12383,NA12399,NA12400,NA12413,NA12489,NA12546,NA12716,NA12717,NA12718,NA12748,NA12749,NA12750,NA12751,NA12761,NA12775,NA12776,NA12777,NA12778,NA12813,NA12827,NA12828,NA12829,NA12830,NA12842,NA12843,NA12878,NA12889,NA12890,NA12891,NA12892,NA18486,NA18487,NA18488,NA18489,NA18498,NA18499,NA18501,NA18505,NA18507,NA18508,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18530,NA18532,NA18533,NA18537,NA18542,NA18545,NA18546,NA18547,NA18548,NA18549,NA18552,NA18555,NA18559,NA18561,NA18562,NA18563,NA18564,NA18565,NA18566,NA18567,NA18571,NA18573,NA18574,NA18576,NA18577,NA18579,NA18582,NA18596,NA18599,NA18602,NA18605,NA18608,NA18610,NA18611,NA18612,NA18620,NA18622,NA18623,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18638,NA18856,NA18858,NA18861,NA18870,NA18873,NA18874,NA18908,NA18909,NA18916,NA18941,NA18942,NA18944,NA18947,NA18950,NA18952,NA18956,NA18960,NA18963,NA18967,NA18983,NA18984,NA18986,NA18988,NA18990,NA18991,NA18999,NA19007,NA19054,NA19058,NA19059,NA19065,NA19078,NA19079,NA19087,NA19088,NA19092,NA19102,NA19107,NA19114,NA19119,NA19198,NA19223,NA19225,NA19235,NA19238,NA19240,NA19257,NA19311,NA19316,NA19319,NA19327,NA19328,NA19332,NA19346,NA19347,NA19359,NA19360,NA19371,NA19372,NA19373,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19384,NA19390,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19430,NA19431,NA19436,NA19438,NA19443,NA19445,NA19453,NA19463,NA19472,NA19625,NA19648,NA19651,NA19652,NA19654,NA19655,NA19657,NA19658,NA19661,NA19663,NA19675,NA19676,NA19679,NA19681,NA19682,NA19684,NA19700,NA19707,NA19713,NA19716,NA19717,NA19719,NA19720,NA19723,NA19725,NA19726,NA19728,NA19729,NA19732,NA19747,NA19749,NA19750,NA19755,NA19759,NA19761,NA19762,NA19770,NA19771,NA19774,NA19776,NA19779,NA19780,NA19782,NA19783,NA19785,NA19786,NA19788,NA19789,NA19818,NA19834,NA19900,NA19904,NA19908,NA19914,NA19920,NA19921,NA20126,NA20278,NA20299,NA20332,NA20336,NA20346,NA20356,NA20502,NA20503,NA20504,NA20506,NA20507,NA20513,NA20514,NA20515,NA20516,NA20517,NA20518,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20533,NA20534,NA20536,NA20537,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20585,NA20586,NA20588,NA20752,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20795,NA20796,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20811,NA20812,NA20813,NA20814,NA20816,NA20826,NA20828 nsv832758 1 11697083 11837144 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442774 S 95 0 1 AGTRAP,C1orf187,FBXO2,FBXO44,FBXO6,MAD2L2 dgv139n71 1 11706791 11728675 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 11710561 11713563 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 11710561 11892650 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 11713166 11724938 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 11713563 11717300 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694449 S 2026 0 1 FBXO2,FBXO44 dgv140n71 1 11763677 11856378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870873,nsv870810 M 6533 0 2 AGTRAP,C1orf187,MTHFR IS38274,MS17208 nsv508880 1 11781440 11831320 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619769 S 4 1 0 AGTRAP NA10860 nsv871919 1 11783484 11904076 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 11797759 11810197 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 11802434 11810197 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 11814631 11856378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871826,nsv870631 M 6533 0 2 MTHFR MS16153,SP54956 nsv518652 1 11857711 11862778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696101 S 2026 0 1 MTHFR esv2280942 1 11889565 11889886 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641147 S 1 0 1 CLCN6 NA18507 nsv527521 1 11900825 11909514 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703975 S 2026 0 1 CLCN6,NPPA,NPPA-AS1 nsv517385 1 11928830 11928895 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669294,nssv681416,nssv656721,nssv673526,nssv653897,nssv652751,nssv690321 M 2026 0 7 "" dgv142n71 1 11928895 12000670 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871350,nsv871776,nsv870866 M 6533 0 3 KIAA2013,PLOD1 IS32322,IS38176,MS18276 nsv870926 1 11937404 12032030 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 11959216 11995176 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511311 S 6533 0 1 KIAA2013,PLOD1 SP55021 esv2743763 1 11988639 11993412 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961545,essv6722000,essv6733477,essv6967920,essv6847005,essv6892315,essv6917415,essv6946487 M 96 0 8 "" SSM017,SSM024,SSM027,SSM028,SSM045,SSM049,SSM086,SSM098 esv2670693 1 11988649 11993407 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6354380,essv5550755,essv5557663,essv5743262,essv5841944,essv5708107,essv6013996,essv5802120,essv5416173,essv6390169,essv6321813,essv6158937,essv5867042,essv6591077,essv6262121,essv5492028,essv6450182 M 1151 0 17 "" HG00180,HG00320,HG00329,HG00419,HG00560,HG00590,HG00662,HG00683,NA18559,NA18582,NA18593,NA18620,NA18636,NA18948,NA18990,NA19076,NA19082 nsv828475 1 11989622 11993278 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423944 S 31 0 1 "" NA18582 esv2674148 1 11989845 11995642 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6516434,essv5548935,essv5579580,essv6287791,essv5652110,essv5975255,essv5970262,essv6255764,essv5396538,essv6134973,essv6229766,essv6300775,essv5726229,essv6062700 M 1151 0 14 PLOD1 HG00180,HG00181,HG00274,HG00277,HG00284,HG00309,HG00320,HG00326,HG00329,HG00339,HG00342,HG00343,HG00344,HG00346 esv22435 1 11989868 11993484 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16673 S 451 0 1 "" NA12414 esv2743774 1 11996690 11997138 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6954735,essv6801612 M 96 0 2 PLOD1 SSM026,SSM073 esv27905 1 12030771 12031509 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17941 S 451 1 0 PLOD1 NA12156 nsv870502 1 12044164 12112720 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 12050634 12115691 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547698 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MFN2,MIIP HGDP00556 esv2743785 1 12052987 12053386 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6747770,essv6773435,essv6950174,essv6961546,essv6722001,essv6733478,essv6917416,essv6839964,essv6847006,essv6946488,essv6813163,essv6843879 M 96 0 12 MFN2 SSM004,SSM017,SSM024,SSM027,SSM045,SSM049,SSM056,SSM066,SSM077,SSM084,SSM085,SSM086 esv2672640 1 12053102 12053417 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5940314,essv6375486,essv6269652,essv6410934,essv5633702,essv5634866,essv6422375,essv6513676,essv6366586,essv5711658,essv5701547,essv5402476,essv5411662,essv5457787,essv6176209,essv5482363,essv5881455,essv5770172 M 1151 0 18 MFN2 HG00419,HG00443,HG00589,HG00590,HG00662,HG00683,HG00690,NA18530,NA18534,NA18536,NA18592,NA18593,NA18597,NA18635,NA18636,NA18948,NA18952,NA18990 nsv871917 1 12054030 12082334 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 12066219 12066609 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 12099726 12259915 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 12122554 12122890 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28542 S 1 0 1 "" SJK nsv466060 1 12130051 12141461 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541698 S 1557 0 1 TNFRSF8 1780862021_A esv2662914 1 12131633 12134080 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5536735 S 1151 0 1 TNFRSF8 HG00282 nsv525898 1 12141461 12168523 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702102 S 2026 0 1 TNFRSF8 esv1290308 1 12150193 12150291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317882 S 2 0 1 TNFRSF8 HuRef nsv508891 1 12157977 12295102 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619770 S 4 1 0 MIR4632,TNFRSF1B,TNFRSF8,VPS13D NA10860 esv2670946 1 12165895 12168936 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6516150 S 1151 0 1 TNFRSF8 HG00136 esv2743796 1 12177282 12178389 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6747771 S 96 0 1 TNFRSF8 SSM056 nsv820293 1 12203578 12203762 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 12215264 12431643 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 12224239 12249020 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871542,nsv871802 M 6533 2 0 TNFRSF1B SP54381,SP54650 nsv527024 1 12224239 12267265 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703399 S 2026 0 1 MIR4632,TNFRSF1B nsv870819 1 12233754 12267265 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 12242458 12246175 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 12242458 12251485 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 12242793 12246175 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 12247128 12264223 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 12354307 12357076 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585374 S 1250 0 1 VPS13D nsv517848 1 12373748 12642243 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695253 S 2026 1 0 DHRS3,SNORA59A,SNORA59B,VPS13D nsv2743 1 12392606 12437500 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7522 S 9 0 1 VPS13D NA12156 esv2743809 1 12447325 12447896 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6735973 S 96 0 1 VPS13D SSM050 nsv2854 1 12470692 12516109 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6975 S 9 0 1 VPS13D NA12156 esv2667673 1 12485247 12489589 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6421919 S 1151 0 1 VPS13D HG00232 nsv528439 1 12502427 12506960 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705034 S 2026 0 1 VPS13D nsv817617 1 12508943 12533468 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417810 S 112 0 1 VPS13D NA18853 essv17144 1 12599168 12831096 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AADACL3,AADACL4,C1orf158,DHRS3 NA19171 dgv20e1 1 12599168 13877055 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array 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 12599422 12684837 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694501 S 2026 0 1 DHRS3 nsv871052 1 12602979 12663774 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 12625101 12670396 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541787 S 1557 0 1 DHRS3 NINDS_71 nsv466283 1 12625101 12684837 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541870 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DHRS3 HGDP00259 dgv145n71 1 12632755 12709554 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870676,nsv870568,nsv871922 M 6533 3 0 AADACL4,DHRS3 SP52559,SP53518,SP57873 nsv870867 1 12642243 12689692 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 12674391 13130134 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 12674391 13795127 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 12693125 12774999 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 12719211 12723184 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 12743147 12747960 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 12743293 12746737 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851711 S 1 0 1 "" NA18507 esv2667361 1 12743405 12746628 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6597293,essv5519525,essv6457931,essv5539803,essv6225797,essv5955844,essv6067103,essv6295698,essv5606588,essv5817963,essv6144014,essv5655474,essv6413214,essv5714381,essv6335145,essv5973727,essv5788887,essv5909270,essv6114312,essv6292295,essv5683600,essv6424701 M 1151 0 22 "" HG01191,HG01365,NA18522,NA18867,NA18874,NA19102,NA19312,NA19334,NA19346,NA19374,NA19383,NA19443,NA19444,NA19453,NA19468,NA19470,NA19474,NA19818,NA19834,NA19908,NA19920,NA19982 esv259758 1 12746602 12752155 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 12774999 12913896 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541946 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 HGDP00153 nsv871119 1 12779618 12846679 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 12788406 12923962 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 NA18969 dgv22e1 1 12788406 13877055 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21921,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 12794950 12922611 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 esv2664000 1 12805272 12807019 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6463242,essv6234108,essv6438790,essv5800624,essv6305105,essv6145854,essv6592404,essv5405133 M 1151 0 8 C1orf158 NA18873,NA18908,NA19189,NA19350,NA19375,NA19393,NA19396,NA19397 nsv832869 1 12807473 13019190 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442796,nssv1442785 M 95 1 1 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv871047 1 12810568 12843000 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 12819063 12923962 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3668,essv8035,essv19818 M 271 0 0 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 NA10847,NA18991,NA19103 nsv470695 1 12820870 12913895 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 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 12820870 12913896 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705350 S 2026 0 1 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 esv2743820 1 12822127 12822406 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6868705 S 96 0 1 "" SSM090 esv993047 1 12822300 12822511 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 esv2743831 1 12822364 12822688 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836181,essv6874699,essv6885978,essv6946489,essv6925686,essv6769511,essv6933298,essv6797443,essv6972332,essv6941776,essv6921711,essv6773436,essv6668941,essv6821176,essv6961547,essv6750591,essv6883254,essv6784989,essv6889001,essv6937672,essv6950546,essv6877661,essv6895844,essv6824975,essv6917417,essv6780863,essv6832593,essv6876743,essv6807369,essv6828994,essv6839966,essv6847007,essv6801613,essv6810336,essv6843787,essv6913994,essv6710575,essv6813164,essv6686149,essv6718161,essv6853230,essv6679162,essv6929055,essv6682819,essv6906093,essv6804398,essv6714238,essv6898608,essv6816687,essv6675194,essv6793276 M 96 0 51 "" SSM010,SSM011,SSM012,SSM014,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM027,SSM029,SSM031,SSM032,SSM033,SSM034,SSM035,SSM042,SSM043,SSM044,SSM057,SSM065,SSM066,SSM068,SSM069,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM086,SSM087,SSM092,SSM093,SSM095,SSM096,SSM097,SSM099,SSM100 esv2675886 1 12822373 12822586 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5515379,essv6443552,essv6512256,essv6366982,essv5520232,essv5520262,essv6219639,essv5879992,essv6473388,essv6052039,essv5532515,essv5905712,essv6439898,essv5541821,essv6235165,essv6283018,essv6302626,essv6345954,essv6058056,essv6491282,essv5990738,essv5677209,essv6406209,essv5935437,essv6411763,essv5562366,essv5562384,essv5765233,essv5665550,essv5803131,essv6226831,essv6431794,essv6069904,essv6120765,essv5578382,essv6537233,essv6355760,essv6491360,essv5602383,essv5603470,essv6263308,essv6010476,essv5615211,essv5620807,essv5621926,essv6139444,essv6005544,essv5982659,essv5918135,essv6266973,essv6096701,essv6510417,essv6426761,essv6219703,essv6473981,essv6166356,essv5650813,essv6570101,essv5651837,essv5652947,essv5659603,essv6003184,essv5722681,essv6208122,essv6202558,essv5894417,essv6088444,essv6016153,essv5926872,essv6592665,essv6246470,essv6063830,essv6167736,essv6262370,essv6126527,essv6515769,essv6177278,essv5677335,essv6090606,essv6287930,essv6038423,essv5799357,essv5758328,essv6378144,essv6336754,essv5826368,essv5403596,essv5404687,essv6361226,essv5407423,essv6058967,essv5419861,essv6196589,essv5426264,essv5433406,essv5695774,essv5446171,essv5447833,essv6487757,essv6181449,essv5452155,essv5736340,essv6366537,essv6107192,essv5871774,essv5457382,essv5460802,essv6228319,essv5868901,essv6299423,essv6577367,essv6024529,essv6465758,essv6529726,essv5482600,essv6230668,essv5772282,essv5904803,essv5495259,essv6590468,essv6274035,essv5505675,essv5510998,essv6301739 M 1151 0 124 "" HG00123,HG00125,HG00131,HG00136,HG00139,HG00140,HG00154,HG00185,HG00237,HG00249,HG00252,HG00254,HG00256,HG00257,HG00258,HG00268,HG00271,HG00276,HG00277,HG00278,HG00282,HG00284,HG00285,HG00310,HG00313,HG00315,HG00318,HG00320,HG00324,HG00325,HG00326,HG00327,HG00330,HG00336,HG00337,HG00342,HG00346,HG00418,HG00419,HG00421,HG00422,HG00428,HG00436,HG00437,HG00442,HG00448,HG00463,HG00472,HG00475,HG00476,HG00500,HG00512,HG00513,HG00524,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00584,HG00590,HG00607,HG00613,HG00614,HG00650,HG00651,HG00663,HG00671,HG00672,HG00689,HG00690,HG00693,HG00701,HG00702,HG00704,HG00705,HG00708,HG01052,HG01055,HG01060,HG01069,HG01070,HG01073,HG01075,HG01082,HG01102,HG01108,HG01170,HG01334,HG01354,HG01365,HG01366,HG01375,HG01389,NA12829,NA18530,NA18534,NA18536,NA18543,NA18544,NA18546,NA18548,NA18557,NA18559,NA18595,NA18596,NA18597,NA18602,NA18606,NA18610,NA18613,NA18623,NA18632,NA18633,NA18635,NA18636,NA18637,NA19076,NA19390,NA19393,NA19452,NA19663,NA19819 dgv24e1 1 12823111 13130134 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 12824223 13741532 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 12834253 12913896 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 12835868 12871327 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 12835868 12887549 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 12835868 12913896 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 12835868 13040098 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 12835868 13775830 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 12839977 12893065 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421068 S 1 1 0 PRAMEF1,PRAMEF11 NA10851 dgv13n67 1 12839977 12909555 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828697,nsv828586 M 31 0 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 AK20,NA18969 nsv471539 1 12840259 12865371 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547949,nssv547950,nssv547951 M 3 PRAMEF1 esv28644 1 12840608 13052938 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15812,esv12552,esv21420,esv16950,esv13103,esv19152,esv20242,esv18407,esv15024,esv11323,esv13474,esv11373,esv11679,esv18833,esv16532 M 451 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 12841807 12951075 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 12841928 12971833 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 12843000 12871327 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 12843000 12887549 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 12845863 12883096 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF1 nsv8768 1 12846155 13517588 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,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv14n67 1 12846734 12920040 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829030,nsv828808 M 31 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 AK2,NA18997 esv32750 1 12846944 13142568 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101537,essv97562,essv101177,essv96818,essv100986,essv95060,essv98305,essv94766,essv101326,essv94423,essv96954,essv97952,essv95661,essv95436,essv93105,essv95313,essv97426,essv95868,essv94614,essv99068,essv92841,essv92784,essv96187,essv96690,essv97209,essv95999,essv93282,essv99649,essv92594,essv96441,essv99314,essv97675,essv100225,essv100556,essv100377,essv98419,essv96257 M 51 37 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 21603,21616,21618,21659,21693,21721,21772,21791,21805,21808,21817,21837,21841,21847,21863,21872,21879,21911,21932,21938,21939,21944,22007,22011,22075,22127,22170,22217,22233,22261,22275,22278,22286,22298,22300,22352,22371 dgv151n71 1 12846998 12926371 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 12849092 12887549 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 12849092 12892350 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 12849092 12898431 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 12849092 12922611 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 12849092 12922611 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 12849092 12939393 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 12849092 12963890 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 12850542 12946255 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 12852748 13014883 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 12852872 12871327 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 12853692 12898164 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828919,nsv829141 M 31 0 2 PRAMEF1,PRAMEF11 AK6,NA18951 esv2669351 1 12853865 12919353 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5886964,essv5455860 M 1151 0 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 NA19087,NA19197 dgv160n71 1 12854842 12872872 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871091,nsv871358 M 6533 4 0 PRAMEF1 IS35100,MS18195,MS23577,MS25747 nsv870688 1 12854842 12878355 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 12856146 12923962 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 12860749 12868237 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 12860749 12880356 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 12860749 12913895 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 12860749 12913896 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 12860749 12913896 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 12860749 12913896 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 12860849 12887549 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 12865920 12913896 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 12867134 12867736 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440800 S 31 0 1 "" NA18969 nsv871633 1 12868237 12913896 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 12868237 12926371 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 esv2743842 1 12868753 12869065 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972333 S 96 0 1 "" SSM029 nsv2965 1 12870541 13185906 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 12870940 12872971 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440801 S 31 0 1 "" NA18969 esv2743853 1 12871334 12993311 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6747772,essv6668942,essv6917420,essv6669166,essv6910037,essv6950547,essv6784532,essv6843798,essv6807370,essv6847008,essv6764156,essv6863951,essv6742134,essv6675195,essv6793278 M 96 0 15 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF7,PRAMEF8 SSM005,SSM009,SSM011,SSM015,SSM017,SSM025,SSM031,SSM032,SSM053,SSM056,SSM063,SSM071,SSM075,SSM086,SSM089 esv1063166 1 12876225 12876225 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300681 S 2 1 0 "" HuRef nsv871161 1 12878355 12922611 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 12879694 13377142 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 12880153 12913896 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536942 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HNRNPCL1,LOC649330,PRAMEF11 HGDP00662 nsv433182 1 12880356 12961027 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463063 S 9 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 NA15510 nsv871065 1 12883131 12939393 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 12883131 13200357 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 dgv16e201 1 12890623 12948407 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2743864,esv2743897 M 96 0 14 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2,PRAMEF4 SSM005,SSM009,SSM011,SSM015,SSM017,SSM025,SSM031,SSM032,SSM053,SSM063,SSM071,SSM075,SSM086,SSM089 esv2743875 1 12892084 12909500 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6847008,essv6843798,essv6668942,essv6917420,essv6910037,essv6669166,essv6807370,essv6863951,essv6793278 M 96 0 9 HNRNPCL1,LOC649330 SSM005,SSM011,SSM015,SSM017,SSM031,SSM071,SSM075,SSM086,SSM089 nsv870584 1 12892350 12922611 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 12893066 13047331 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419881 S 1 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA10851 nsv436469 1 12893250 12948757 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466583 S 2 0 1 Samples from several populations that are part of the HapMap project. HNRNPCL1,LOC649330,PRAMEF2,PRAMEF4 NA18505 dgv17e201 1 12893638 13187357 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2743931,esv2743886,esv2743953 M 96 0 14 HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 SSM005,SSM006,SSM011,SSM015,SSM017,SSM029,SSM031,SSM032,SSM053,SSM063,SSM075,SSM086,SSM088,SSM089 dgv16n67 1 12897764 12920188 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 esv2743908 1 12898017 12898360 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6917420,essv6910037,essv6669166,essv6847008,essv6843798,essv6807370,essv6863951 M 96 0 7 "" SSM005,SSM011,SSM015,SSM017,SSM075,SSM086,SSM089 esv2678231 1 12898628 13013341 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5596796 S 1151 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA19661 nsv819147 1 12904000 13171318 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 12904306 13711215 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 esv2743920 1 12904579 12909510 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6764156 S 96 0 1 HNRNPCL1,LOC649330 SSM063 esv2675529 1 12907342 13183072 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6182285,essv5540544,essv5724395,essv6032809,essv6560398,essv6075220,essv6464502,essv6377713,essv5937542,essv6037647,essv6562809,essv6274420,essv6043566,essv6323765,essv6454116,essv5512955 M 1151 0 16 HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 HG00126,HG00369,HG00534,HG00613,HG00684,HG01067,HG01173,HG01365,NA12718,NA18867,NA18982,NA19436,NA19455,NA19701,NA19713,NA19917 esv2743942 1 12908832 12946292 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6675195 S 96 0 1 PRAMEF2,PRAMEF4 SSM032 nsv442514 1 12909237 12927107 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF2 dgv163n71 1 12909239 12947563 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871099,nsv871402 M 6533 2 0 PRAMEF2,PRAMEF4 SP55401,SP56114 essv24011 1 12911096 12923962 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PRAMEF2 NA12873 dgv10n27 1 12911200 12913896 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis 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 12918674 13014883 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 12947563 13014883 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 esv2665195 1 12949845 12966192 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5737883,essv6305066,essv6179555,essv6094799,essv5702422,essv6035703,essv5828485,essv5403358,essv5699349,essv6170724 M 1151 0 10 PRAMEF10 NA19661,NA19663,NA19664,NA19681,NA19726,NA19746,NA19747,NA19770,NA19782,NA19789 nsv508902 1 12998039 13135946 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619771,nssv623773 M 4 2 0 PRAMEF22,PRAMEF5,PRAMEF6 NA10860,NA18994 nsv510936 1 12998039 13649130 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621649,nssv624358 M 4 0 0 LOC440563,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA15510,NA18994 esv1004322 1 12998381 13052998 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 dgv14e199 1 13009645 13047292 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2662684,esv2664955 M 1151 0 355 PRAMEF22 HG00403,HG00404,HG00419,HG00421,HG00422,HG00428,HG00442,HG00443,HG00448,HG00449,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00537,HG00542,HG00543,HG00554,HG00557,HG00559,HG00565,HG00566,HG00580,HG00583,HG00589,HG00592,HG00593,HG00596,HG00607,HG00608,HG00614,HG00619,HG00620,HG00625,HG00626,HG00634,HG00638,HG00640,HG00651,HG00654,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00699,HG00701,HG00704,HG00705,HG00707,HG00708,HG00731,HG00732,HG01047,HG01051,HG01052,HG01055,HG01061,HG01066,HG01069,HG01073,HG01075,HG01079,HG01080,HG01082,HG01083,HG01097,HG01101,HG01102,HG01107,HG01167,HG01168,HG01171,HG01174,HG01176,HG01182,HG01183,HG01188,HG01197,HG01198,HG01204,NA06984,NA06994,NA07037,NA07048,NA07051,NA07056,NA07357,NA11843,NA11893,NA11920,NA11932,NA11992,NA11993,NA11995,NA12003,NA12043,NA12044,NA12046,NA12058,NA12156,NA12287,NA12340,NA12341,NA12342,NA12347,NA12399,NA12413,NA12414,NA12546,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12813,NA18526,NA18534,NA18537,NA18538,NA18541,NA18542,NA18543,NA18545,NA18547,NA18548,NA18550,NA18553,NA18555,NA18559,NA18560,NA18561,NA18563,NA18564,NA18565,NA18566,NA18567,NA18577,NA18579,NA18582,NA18592,NA18593,NA18602,NA18603,NA18606,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18618,NA18620,NA18621,NA18622,NA18624,NA18626,NA18627,NA18628,NA18631,NA18632,NA18633,NA18635,NA18636,NA18638,NA18940,NA18941,NA18942,NA18945,NA18947,NA18948,NA18950,NA18951,NA18952,NA18956,NA18964,NA18965,NA18971,NA18973,NA18980,NA18981,NA18982,NA18985,NA18986,NA18987,NA18989,NA18990,NA19000,NA19002,NA19003,NA19005,NA19012,NA19054,NA19056,NA19058,NA19059,NA19060,NA19065,NA19066,NA19067,NA19070,NA19076,NA19079,NA19080,NA19082,NA19083,NA19084,NA19085,NA19088,NA19312,NA19313,NA19315,NA19316,NA19317,NA19318,NA19319,NA19327,NA19331,NA19332,NA19334,NA19346,NA19360,NA19372,NA19373,NA19375,NA19377,NA19379,NA19380,NA19382,NA19390,NA19393,NA19395,NA19396,NA19397,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19435,NA19436,NA19437,NA19438,NA19439,NA19443,NA19445,NA19446,NA19448,NA19453,NA19455,NA19456,NA19457,NA19463,NA19466,NA19467,NA19469,NA19472,NA19474,NA19651,NA19654,NA19655,NA19657,NA19660,NA19663,NA19675,NA19676,NA19678,NA19679,NA19681,NA19716,NA19717,NA19719,NA19720,NA19722,NA19723,NA19725,NA19726,NA19731,NA19746,NA19747,NA19749,NA19756,NA19758,NA19759,NA19761,NA19762,NA19770,NA19773,NA19774,NA19776,NA19779,NA19780,NA19785,NA19786,NA19789,NA20502,NA20506,NA20508,NA20509,NA20510,NA20515,NA20516,NA20517,NA20518,NA20520,NA20522,NA20524,NA20526,NA20534,NA20535,NA20537,NA20540,NA20541,NA20542,NA20544,NA20585,NA20588,NA20589,NA20753,NA20756,NA20758,NA20765,NA20773,NA20774,NA20778,NA20786,NA20790,NA20792,NA20801,NA20804,NA20805,NA20808,NA20810 nsv433183 1 13014884 13189824 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463064 S 9 0 1 Samples from several populations that are part of the HapMap project. LOC440563,PRAMEF22,PRAMEF5 NA19129 nsv821036 1 13047332 13052938 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419992 S 1 1 0 "" NA10851 esv1010773 1 13102999 13124417 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 13103023 13148421 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420103 S 1 0 1 PRAMEF5 NA10851 esv27872 1 13103023 13219695 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12755,esv19008,esv13717,esv10927,esv20862,esv19236,esv13674,esv20553,esv19875,esv10209 M 451 14 6 LOC440563,PRAMEF5 NA11894,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12878,NA18517,NA18523,NA18858,NA18861,NA19099,NA19108,NA19129,NA19190,NA19225 nsv871466 1 13103575 13183597 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 13103575 13218798 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576627 S 6533 1 0 LOC440563,PRAMEF5 IS34185 nsv871634 1 13111376 13789550 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 13113724 13516346 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871157,nsv871923 M 6533 2 0 LOC440563,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 IS38162,IS41883 dgv15e199 1 13119145 13141792 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2666826,esv2659331,esv2663624 M 1151 0 400 "" HG00403,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00559,HG00560,HG00565,HG00566,HG00577,HG00578,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00593,HG00595,HG00596,HG00607,HG00608,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00628,HG00629,HG00634,HG00635,HG00650,HG00651,HG00653,HG00654,HG00656,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00692,HG00693,HG00698,HG00699,HG00701,HG00705,HG00707,HG00708,HG01124,HG01125,HG01134,HG01136,HG01137,HG01140,HG01148,HG01149,HG01250,HG01251,HG01253,HG01342,HG01350,HG01351,HG01353,HG01357,HG01359,HG01360,HG01365,HG01366,HG01374,HG01375,HG01377,HG01378,HG01383,HG01384,HG01389,HG01390,HG01437,HG01440,HG01441,HG01455,HG01461,HG01462,HG01489,HG01491,HG01492,HG01495,HG01498,HG01550,HG01551,NA06986,NA06989,NA06994,NA07000,NA07037,NA07048,NA07051,NA07056,NA07346,NA07347,NA10851,NA11829,NA11830,NA11831,NA11832,NA11881,NA11892,NA11894,NA11919,NA11920,NA11930,NA11931,NA11933,NA11992,NA11993,NA11994,NA12003,NA12044,NA12045,NA12046,NA12144,NA12154,NA12155,NA12156,NA12249,NA12272,NA12275,NA12286,NA12287,NA12341,NA12347,NA12348,NA12383,NA12399,NA12400,NA12716,NA12717,NA12750,NA12761,NA12763,NA12775,NA12776,NA12778,NA12813,NA12827,NA12828,NA12842,NA12843,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18516,NA18520,NA18522,NA18526,NA18532,NA18534,NA18535,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18555,NA18557,NA18558,NA18559,NA18560,NA18562,NA18563,NA18564,NA18566,NA18567,NA18570,NA18571,NA18572,NA18573,NA18574,NA18576,NA18577,NA18579,NA18592,NA18593,NA18595,NA18599,NA18602,NA18603,NA18605,NA18606,NA18608,NA18609,NA18610,NA18612,NA18614,NA18615,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18853,NA18858,NA18867,NA18868,NA18870,NA18907,NA18908,NA18910,NA18912,NA18916,NA18917,NA18924,NA18933,NA18940,NA18941,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18961,NA18963,NA18964,NA18965,NA18967,NA18971,NA18972,NA18974,NA18976,NA18977,NA18980,NA18981,NA18982,NA18983,NA18984,NA18987,NA18989,NA18999,NA19000,NA19002,NA19004,NA19005,NA19007,NA19009,NA19010,NA19054,NA19055,NA19056,NA19058,NA19059,NA19060,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19085,NA19087,NA19088,NA19093,NA19099,NA19108,NA19114,NA19119,NA19129,NA19138,NA19144,NA19152,NA19153,NA19160,NA19171,NA19189,NA19190,NA19198,NA19204,NA19213,NA19223,NA19225,NA19235,NA19648,NA19651,NA19652,NA19655,NA19661,NA19663,NA19664,NA19675,NA19678,NA19679,NA19681,NA19682,NA19685,NA19716,NA19717,NA19719,NA19722,NA19723,NA19725,NA19726,NA19728,NA19729,NA19731,NA19732,NA19747,NA19750,NA19758,NA19761,NA19762,NA19770,NA19771,NA19776,NA19777,NA19780,NA19782,NA19783,NA19785,NA19788,NA19789 nsv870885 1 13121776 13374687 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 13142545 13188170 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 13159771 13162302 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv112 S 1 1 0 "" NA15510 nsv821333 1 13161724 13219695 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420214 S 1 1 0 LOC440563 NA10851 esv2743964 1 13178707 13187803 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874700,essv6836182,essv6759038,essv6946491,essv6946490,essv6933299,essv6747773,essv6916651,essv6797444,essv6797445,essv6725847,essv6725846,essv6950185,essv6921712,essv6821178,essv6972334,essv6709708,essv6889002,essv6668945,essv6910036,essv6807371,essv6917419,essv6750592,essv6784543,essv6889003,essv6669188,essv6784990,essv6669177,essv6937674,essv6877662,essv6735974,essv6824978,essv6824977,essv6703859,essv6722002,essv6753491,essv6868706,essv6868707,essv6876754,essv6871710,essv6885980,essv6689253,essv6839967,essv6689255,essv6880416,essv6880415,essv6801614,essv6885979,essv6913995,essv6843809,essv6847011,essv6807372,essv6847010,essv6718162,essv6686150,essv6789145,essv6729614,essv6843880,essv6695632,essv6764157,essv6742135,essv6853232,essv6902526,essv6863954,essv6906095,essv6748298,essv6761849,essv6906094,essv6679163,essv6707261,essv6682822,essv6682823,essv6692756,essv6859185,essv6859184,essv6714239,essv6696986,essv6793279 M 96 0 63 LOC440563 SSM001,SSM003,SSM004,SSM005,SSM006,SSM008,SSM009,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM021,SSM022,SSM024,SSM029,SSM031,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM040,SSM041,SSM043,SSM044,SSM045,SSM046,SSM047,SSM050,SSM053,SSM056,SSM057,SSM058,SSM061,SSM062,SSM063,SSM069,SSM070,SSM071,SSM072,SSM073,SSM075,SSM079,SSM080,SSM083,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM096,SSM097 esv2675846 1 13178772 13187516 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6508438,essv6552450,essv5550447,essv6316601,essv5583076,essv5598686,essv6192563,essv5829847,essv6451370,essv5831266,essv6055049,essv6212375,essv6220028,essv5492472 M 1151 0 14 LOC440563 HG00537,NA07357,NA10851,NA11918,NA18489,NA18593,NA19093,NA19099,NA19108,NA19147,NA19225,NA19835,NA20522,NA20529 esv8453 1 13179085 13187572 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30894 S 1 0 1 LOC440563 SJK esv2743975 1 13181668 13201143 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6889004 S 96 0 1 LOC440563 SSM097 esv987716 1 13211906 13219912 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 13320001 13368854 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 13320047 13499446 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12571,esv16485,esv12763,esv17976,esv17726,esv18444,esv18416,esv17055,esv15096,esv12877,esv20457,esv10590 M 451 34 11 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv832981 1 13330166 13517412 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442807 S 95 0 1 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 nsv511155 1 13340066 13345819 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626055 S 1 0 1 "" 1 nsv821207 1 13347012 13429392 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420225 S 1 0 1 PRAMEF15,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA10851 esv2743986 1 13353537 13497497 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6917421,essv6784554,essv6800932,essv6853233,essv6742136,essv6816577,essv6748309 M 96 0 7 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 SSM002,SSM008,SSM009,SSM017,SSM053,SSM078,SSM087 esv2665484 1 13368345 13375092 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6591719,essv5518347,essv6525145,essv5522244,essv6431464,essv5882418,essv6436500,essv5783116,essv6475366,essv5525648,essv6444431,essv5968831,essv6514155,essv6333942,essv6560799,essv5820341,essv6365909,essv5555972,essv6461686,essv5893957,essv6410534,essv5573162,essv5591357,essv5615380,essv5974248,essv6344402,essv5815259,essv6288394,essv5921103,essv5650208,essv5652728,essv6138136,essv5691512,essv5696953,essv5703881,essv6092066,essv5833750,essv5941913,essv5716590,essv6168348,essv5925897,essv5959523,essv6122402,essv5805042,essv6087877,essv6282087,essv5775135,essv5430477,essv5430621,essv5435009,essv5444057,essv5691405,essv5863970,essv5452069,essv5460337,essv5463844,essv6020722,essv5773314,essv6004250,essv5494076,essv5497301,essv5901173,essv5506822,essv6096804,essv6225081 M 1151 0 65 PRAMEF5,PRAMEF6 NA06984,NA06986,NA06989,NA06994,NA07037,NA07048,NA07056,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11831,NA11832,NA11843,NA11881,NA11892,NA11893,NA11894,NA11919,NA11920,NA11930,NA11931,NA11932,NA11933,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12046,NA12058,NA12144,NA12154,NA12155,NA12156,NA12272,NA12273,NA12275,NA12286,NA12287,NA12340,NA12341,NA12347,NA12348,NA12383,NA12399,NA12413,NA12546,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12778,NA12813,NA12828 nsv483003 1 13372572 13557162 CNV Gain Iafrate et al 2004 15286789 BAC_aCGH,FISH Spectral Genomics 2600 BAC array nssv650778 M 0 2 0 Seven samples from cytogenetically abnormal individuals were obtained from the Brigham and Women's Cytogenetics Laboratory and 9 DNA samples, from individuals with defined karyotypic abnormalities, were obtained from whole blood samples from the Hospital for Sick Children. PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF8,PRAMEF9 nsv871291 1 13379877 13685401 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 13417051 13475340 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 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef nsv442562 1 13444908 13468022 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF13,PRAMEF14 esv1751185 1 13468489 13468542 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633436 S 2 0 1 "" HuRef nsv8879 1 13520038 13532399 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28030 S 31 1 0 Samples from several populations that are part of the HapMap project. PRAMEF20,PRAMEF21 NA10847 nsv8991 1 13546805 13749786 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. PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv508137 1 13551291 13772150 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618967 S 4 0 1 PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 NA10860 esv24967 1 13553987 13556868 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13012,esv20195 M 451 2 0 "" NA12878,NA18907 nsv820708 1 13607202 13653136 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420236 S 1 0 1 PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 NA10851 esv29915 1 13607202 13723120 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16388,esv10843,esv15458,esv16637,esv14244,esv11807 M 451 34 5 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 nsv871425 1 13608156 13670191 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544023 S 6533 1 0 PRAMEF14,PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 MS16211 nsv870544 1 13608156 13712559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540747 S 6533 0 1 PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF7,PRAMEF8,PRAMEF9 MS15014 dgv169n71 1 13608156 13719733 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871777,nsv871149 M 6533 0 2 PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF7,PRAMEF8,PRAMEF9 MS11361,MS22886 nsv871611 1 13627993 13741532 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558325 S 6533 1 0 PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF9 MS23210 esv987523 1 13636959 13696564 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 PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef nsv871524 1 13670191 13719733 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511989 S 6533 0 1 PRAMEF14,PRAMEF17,PRAMEF18,PRAMEF19 SP55223 dgv16e199 1 13692845 13774592 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2660387,esv2677250 M 1151 0 374 PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21 HG00403,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00559,HG00560,HG00565,HG00566,HG00577,HG00578,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00593,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00628,HG00629,HG00634,HG00635,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,NA19311,NA19312,NA19313,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19331,NA19332,NA19334,NA19338,NA19346,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19399,NA19401,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19453,NA19455,NA19456,NA19457,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19648,NA19651,NA19652,NA19654,NA19655,NA19657,NA19660,NA19661,NA19663,NA19664,NA19675,NA19676,NA19678,NA19679,NA19681,NA19682,NA19684,NA19685,NA19700,NA19701,NA19703,NA19704,NA19707,NA19711,NA19712,NA19713,NA19716,NA19717,NA19719,NA19720,NA19722,NA19723,NA19725,NA19726,NA19728,NA19729,NA19731,NA19732,NA19746,NA19747,NA19749,NA19750,NA19755,NA19756,NA19758,NA19759,NA19761,NA19762,NA19770,NA19771,NA19773,NA19774,NA19776,NA19777,NA19779,NA19780,NA19782,NA19783,NA19785,NA19786,NA19788,NA19789,NA19818,NA19819,NA19834,NA19835,NA19901,NA19904,NA19908,NA19914,NA19916,NA19917,NA19920,NA19921,NA19982,NA19985,NA20126,NA20127,NA20276,NA20278,NA20281,NA20282,NA20287,NA20289,NA20291,NA20294,NA20296,NA20299,NA20314,NA20317,NA20322,NA20332,NA20334,NA20336,NA20340,NA20341,NA20342,NA20344,NA20346,NA20348,NA20356,NA20502,NA20503,NA20504,NA20505,NA20506,NA20507,NA20508,NA20509,NA20510,NA20512,NA20513,NA20514,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20522,NA20524,NA20525,NA20526,NA20527,NA20528,NA20529,NA20530,NA20531,NA20532,NA20533,NA20534,NA20535,NA20536,NA20537,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20582,NA20585,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20798,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20814,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828 nsv9102 1 13762482 13782195 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 13772489 14080748 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 13774084 13777459 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17463 S 451 0 4 "" NA18523,NA18858,NA19240,NA19257 nsv829503 1 13774117 13774919 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425488 S 31 1 0 "" AK4 esv2421816 1 13775026 13776828 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip 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 13783354 13822035 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 13796339 13796930 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309749 S 1 1 0 "" NA18507 nsv833092 1 13804919 13963924 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442829,nssv1442818 M 95 0 2 LRRC38,PDPN nsv518971 1 13806039 13816121 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696439 S 2026 0 1 LRRC38 esv2743997 1 13827928 13828226 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6847012,essv6753492 M 96 0 2 LRRC38 SSM058,SSM086 esv2667214 1 13827952 13828141 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6597905,essv6375468,essv6527450,essv5882652,essv6465113,essv5927303,essv6472157,essv5525495,essv6554198,essv5527918,essv6551447,essv6276556,essv6486467,essv5528342,essv6597214,essv5529075,essv6581615,essv6174435,essv6525437,essv6010364,essv6574648,essv5540905,essv6110467,essv6251516,essv5571879,essv6220064,essv5996246,essv6097172,essv5883876,essv5887391,essv5589979,essv5996805,essv5627382,essv5629333,essv5633266,essv5645853,essv5652502,essv5654703,essv6434833,essv5829553,essv6351454,essv5979848,essv6010231,essv6404963,essv5817662,essv6335162,essv6165043,essv5678857,essv5997060,essv6010861,essv5968490,essv5926579,essv5878044,essv6354439,essv6307016,essv6270017,essv6136422,essv6133155,essv5688382,essv6300070,essv5424672,essv5849354,essv5430608,essv5693025,essv5437821,essv6282862,essv5447578,essv6327539,essv5453421,essv5752641,essv6045496,essv6129928,essv5474916,essv6049111,essv6009858,essv5490185,essv6405631,essv5499304,essv6272089,essv5507820,essv6295186 M 1151 0 81 LRRC38 HG00096,HG00108,HG00123,HG00125,HG00136,HG00137,HG00158,HG00232,HG00249,HG00252,HG00253,HG00277,HG00281,HG00282,HG00309,HG00313,HG00318,HG00324,HG00327,HG00336,HG00345,HG00346,HG00421,HG00437,HG00512,HG00524,HG00533,HG00583,HG00584,HG00589,HG00607,HG00608,HG00651,HG00690,HG00698,HG01052,HG01060,HG01069,HG01070,HG01174,HG01187,HG01334,HG01353,HG01365,HG01366,HG01375,HG01377,HG01384,HG01437,HG01441,HG01492,NA07347,NA10851,NA11894,NA11918,NA11930,NA11995,NA12003,NA12155,NA18548,NA18552,NA18633,NA18636,NA18856,NA18940,NA19093,NA19116,NA19225,NA19321,NA19360,NA19371,NA19374,NA19383,NA19391,NA19394,NA19395,NA19396,NA19397,NA19399,NA19428,NA20341 esv2744008 1 13848161 13849028 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972336,essv6937675,essv6703860,essv6776929,essv6933300,essv6738806,essv6682824,essv6707262,essv6718854 M 96 0 9 "" SSM007,SSM021,SSM022,SSM029,SSM034,SSM040,SSM041,SSM052,SSM067 esv2376333 1 13848507 13848866 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939438 S 1 0 1 "" NA18507 esv2744019 1 13848519 13848893 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6776929,essv6682824,essv6707262 M 96 0 3 "" SSM034,SSM041,SSM067 esv1009061 1 13848607 13848607 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 esv2658094 1 13854190 13854379 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5514861,essv6124796,essv5517554,essv6346310,essv5519714,essv6563386,essv5520251,essv6096620,essv5521790,essv6589873,essv5975828,essv6526690,essv5667103,essv6560168,essv5526966,essv6247692,essv6084609,essv6281794,essv5530771,essv6481467,essv5534797,essv6473802,essv5535262,essv6260719,essv6056130,essv6268292,essv5543408,essv6534412,essv5547019,essv6144375,essv5960653,essv6519506,essv6075772,essv6175858,essv5548836,essv6420430,essv5550077,essv6516581,essv5550129,essv6477733,essv5550463,essv6302531,essv5754235,essv6487837,essv5933301,essv6173582,essv5556836,essv6505563,essv5557860,essv6392379,essv5932411,essv6237551,essv5897617,essv6138316,essv5664819,essv6538902,essv5562956,essv6248492,essv5953067,essv6510999,essv5567034,essv6301748,essv5571023,essv6580857,essv5579923,essv6489783,essv5580293,essv6456993,essv5965042,essv6094221,essv5757224,essv6499862,essv5922194,essv6418213,essv6000834,essv6130641,essv6031404,essv6590058,essv5821522,essv6182792,essv5982563,essv6484334,essv6016920,essv6127900,essv5601070,essv6274427,essv5763687,essv6312358,essv5612708,essv6582753,essv5616040,essv6380935,essv5621734,essv6317269,essv5623698,essv6275652,essv6012974,essv6577413,essv5639876,essv6459433,essv5891494,essv6596432,essv5731451,essv6166899,essv5642618,essv6277010,essv5644291,essv6585751,essv5645527,essv6092130,essv5718507,essv6575837,essv5901771,essv6134546,essv5656503,essv6556159,essv5999398,essv6406195,essv5662908,essv6460990,essv5908486,essv6529094,essv5840187,essv6436623,essv5768748,essv6337280,essv5767133,essv6380526,essv5677481,essv6476298,essv5679858,essv6597866,essv5683130,essv6514724,essv5881093,essv6385230,essv5738045,essv6227837,essv5758327,essv6259387,essv5709203,essv6293672,essv5949197,essv6134227,essv5722966,essv6307927,essv6006928,essv6241175,essv5978187,essv6354370,essv5970214,essv6568499,essv5916737,essv6584145,essv6044956,essv6331160,essv5835282,essv6518239,essv5761386,essv6208914,essv5767193,essv6480899,essv5963405,essv6127554,essv5811810,essv6519944,essv5955605,essv6487241,essv5759534,essv6314133,essv5740411,essv6166006,essv6033408,essv6268057,essv6044589,essv6576788,essv5703927,essv6207898,essv6038810,essv6437222,essv6039474,essv6188162,essv5834404,essv6135002,essv6038528,essv6358787,essv5397079,essv6417259,essv5703516,essv6421536,essv6078499,essv6501009,essv5406423,essv6559901,essv5413303,essv6228340,essv5415706,essv6414725,essv5426478,essv6150035,essv5431792,essv6514553,essv5694770,essv6471375,essv5437298,essv6424190,essv5439999,essv6298750,essv5440187,essv6482388,essv5442693,essv6443922,essv5866379,essv6318609,essv5867077,essv6081436,essv5454528,essv5463492,essv5464387,essv5466717,essv5868716,essv5469047,essv5470649,essv5929006,essv5685828,essv5930142,essv5974643,essv5795599,essv5835677,essv5836452,essv5953739,essv5507613,essv5509575,essv5908267,essv5513619 M 1151 0 235 "" HG00103,HG00131,HG00133,HG00138,HG00140,HG00142,HG00154,HG00155,HG00182,HG00190,HG00233,HG00237,HG00246,HG00253,HG00259,HG00267,HG00268,HG00271,HG00276,HG00278,HG00281,HG00284,HG00285,HG00306,HG00309,HG00310,HG00318,HG00320,HG00324,HG00327,HG00334,HG00337,HG00339,HG00343,HG00346,HG00366,HG00368,HG00375,HG00418,HG00421,HG00422,HG00427,HG00428,HG00437,HG00442,HG00463,HG00464,HG00475,HG00476,HG00500,HG00513,HG00530,HG00531,HG00534,HG00537,HG00542,HG00543,HG00580,HG00581,HG00583,HG00589,HG00590,HG00592,HG00593,HG00607,HG00608,HG00613,HG00620,HG00638,HG00640,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00689,HG00690,HG00698,HG00699,HG00702,HG00704,HG00707,HG00731,HG01051,HG01052,HG01055,HG01070,HG01072,HG01080,HG01082,HG01083,HG01098,HG01101,HG01102,HG01107,HG01108,HG01134,HG01136,HG01137,HG01140,HG01149,HG01170,HG01173,HG01183,HG01253,HG01254,HG01334,HG01342,HG01350,HG01351,HG01356,HG01357,HG01360,HG01366,HG01378,HG01383,HG01384,HG01390,HG01462,HG01489,HG01515,HG01516,HG01518,HG01522,HG01551,NA06984,NA11994,NA12275,NA12340,NA18487,NA18534,NA18536,NA18543,NA18544,NA18548,NA18550,NA18553,NA18557,NA18559,NA18560,NA18561,NA18565,NA18574,NA18595,NA18596,NA18597,NA18599,NA18608,NA18610,NA18613,NA18622,NA18623,NA18633,NA18636,NA18856,NA18934,NA18956,NA18963,NA18982,NA18985,NA18986,NA18987,NA18990,NA18999,NA19010,NA19062,NA19064,NA19066,NA19067,NA19072,NA19074,NA19075,NA19076,NA19079,NA19080,NA19082,NA19088,NA19198,NA19223,NA19236,NA19248,NA19316,NA19317,NA19318,NA19327,NA19332,NA19372,NA19376,NA19381,NA19384,NA19390,NA19391,NA19396,NA19399,NA19401,NA19404,NA19428,NA19439,NA19443,NA19467,NA19625,NA19651,NA19652,NA19657,NA19658,NA19661,NA19663,NA19682,NA19685,NA19717,NA19726,NA19758,NA19774,NA19782,NA19786,NA19835,NA19901,NA19909,NA19917,NA19921,NA20276,NA20299,NA20314,NA20346,NA20503,NA20755,NA20760,NA20771,NA20818 esv2676801 1 13883468 13884505 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5398325 S 1151 0 1 "" NA19440 esv2744031 1 13894060 13894905 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668946,essv6972337,essv6735975,essv6666891,essv6933301,essv6733479,essv6954736,essv6764158,essv6853234,essv6863955,essv6816578,essv6748320,essv6761850 M 96 0 13 "" SSM008,SSM021,SSM026,SSM029,SSM030,SSM031,SSM049,SSM050,SSM062,SSM063,SSM078,SSM087,SSM089 esv2417844 1 13894317 13894768 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564737 S 1 0 1 "" NA18507 esv2744042 1 13894415 13894600 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668946,essv6954736,essv6853234,essv6816578,essv6863955 M 96 0 5 "" SSM026,SSM031,SSM078,SSM087,SSM089 esv2744053 1 13894499 13894574 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668946,essv6954736,essv6863955 M 96 0 3 "" SSM026,SSM031,SSM089 nsv460483 1 13903715 13916997 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537046 S 1557 0 1 PDPN 1780854159_A esv2744064 1 13931412 13932098 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836183,essv6871711,essv6797446,essv6916662,essv6921713,essv6784991,essv6950548,essv6780864,essv6954737,essv6913997,essv6692757,essv6793280 M 96 0 12 PDPN SSM003,SSM016,SSM018,SSM025,SSM026,SSM037,SSM068,SSM069,SSM071,SSM072,SSM083,SSM091 esv270520 1 13939991 13940348 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 13954193 13984534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv474 S 9 1 0 "" NA19240 nsv528139 1 13973250 13989227 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704685 S 2026 0 1 "" esv1349671 1 13984919 13984919 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353969 S 2 1 0 "" HuRef nsv523568 1 13992069 14004623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699350 S 2026 0 1 "" nsv3187 1 13992339 14037646 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7852 S 9 0 1 PRDM2 NA12156 esv2744075 1 13999684 14000134 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6679164 S 96 0 1 "" SSM033 esv2744086 1 14132559 14132935 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6714240 S 96 0 1 PRDM2 SSM043 nsv871863 1 14138813 14228077 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 14160212 14213963 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593339 S 6533 1 0 "" IS39408 esv22539 1 14163040 14167016 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16966,esv19106 M 451 0 10 "" NA18505,NA18511,NA18517,NA18858,NA18907,NA18909,NA19099,NA19147,NA19225,NA19257 esv2660771 1 14163093 14167002 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6241574,essv6101699,essv6326609,essv5947056,essv6556082,essv6143653,essv6499202,essv5561509,essv6334563,essv6007775,essv6546952,essv5878578,essv6591425,essv6030971,essv6569919,essv6064476,essv6475055,essv6112891,essv6276590,essv6100642,essv6198786,essv5601272,essv6479979,essv5738996,essv6208975,essv5614058,essv6563699,essv5617103,essv6289637,essv5638046,essv6586520,essv5638982,essv6302125,essv5652186,essv6344862,essv5653858,essv6414672,essv5913446,essv5660168,essv5663105,essv6057318,essv5712320,essv5688053,essv5837003,essv5881645,essv6113322,essv5850685,essv5421703,essv5446129,essv6150516,essv5456701,essv5470781,essv6131673,essv5508810 M 1151 0 54 "" HG01188,HG01197,HG01551,NA18486,NA18487,NA18501,NA18505,NA18511,NA18517,NA18858,NA18871,NA18907,NA19092,NA19093,NA19099,NA19107,NA19130,NA19137,NA19147,NA19171,NA19225,NA19257,NA19316,NA19318,NA19347,NA19373,NA19374,NA19381,NA19382,NA19383,NA19390,NA19391,NA19394,NA19403,NA19431,NA19437,NA19440,NA19443,NA19444,NA19449,NA19452,NA19453,NA19456,NA19462,NA19469,NA19470,NA19473,NA19703,NA19707,NA19712,NA19916,NA19982,NA20126,NA20287 nsv508007 1 14184921 14190921 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 14208488 14209336 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690011,nssv669085 M 2026 0 2 "" nsv870534 1 14231992 14386963 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593340 S 6533 1 0 "" IS39408 nsv516435 1 14284460 14286464 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681150,nssv683301,nssv668340 M 2026 0 3 "" esv35099 1 14294605 14370368 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979949,essv6986978 M 771 1 0 "" NA18863 esv24677 1 14295319 14295827 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16259 S 451 0 1 "" NA19257 dgv26e1 1 14305082 14372400 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1095,essv9545,essv11300 M 271 0 0 "" NA18861,NA18863 esv27027 1 14311609 14371586 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13313 S 451 1 0 "" NA18861 nsv524444 1 14313480 14371175 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700376 S 2026 1 0 "" nsv517840 1 14331940 14337844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695245 S 2026 0 1 "" esv1011257 1 14340834 14349546 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 14436092 14439233 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360365 S 1 0 1 "" NA18507 nsv819952 1 14436093 14438830 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 14436261 14436764 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431794 S 31 0 1 "" AK20 esv270235 1 14436283 14436485 CNV Insertion 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 14436311 14438948 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17238 S 451 0 21 "" NA11931,NA12044,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA19099,NA19114,NA19129,NA19147,NA19225,NA19240 esv2744097 1 14436321 14438933 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6946492,essv6961548,essv6874701,essv6836184,essv6759039,essv6710577,essv6941777,essv6738807,essv6761851,essv6821179,essv6921714,essv6744929,essv6784565,essv6761852,essv6895845,essv6889005,essv6668947,essv6972338,essv6910038,essv6666892,essv6750593,essv6750594,essv6950196,essv6669199,essv6686151,essv6877663,essv6703861,essv6801615,essv6733480,essv6722003,essv6766535,essv6832594,essv6733481,essv6780865,essv6868708,essv6876765,essv6828995,essv6885981,essv6925687,essv6967921,essv6839968,essv6689256,essv6880417,essv6742137,essv6892316,essv6913998,essv6776930,essv6810337,essv6917422,essv6843821,essv6813165,essv6807373,essv6801043,essv6906097,essv6847013,essv6695643,essv6843881,essv6902527,essv6816579,essv6863956,essv6748331,essv6929056,essv6898609,essv6707263,essv6692758,essv6720819,essv6816698,essv6804400,essv6753494,essv6675196,essv6859186,essv6714241,essv6753493,essv6793281,essv6933302 M 96 0 71 "" SSM001,SSM002,SSM004,SSM005,SSM006,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM023,SSM024,SSM027,SSM028,SSM029,SSM030,SSM031,SSM032,SSM035,SSM036,SSM037,SSM040,SSM041,SSM042,SSM043,SSM045,SSM049,SSM052,SSM053,SSM055,SSM057,SSM058,SSM061,SSM062,SSM064,SSM067,SSM068,SSM071,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM079,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM088,SSM089,SSM090,SSM092,SSM093,SSM094,SSM096,SSM097,SSM098,SSM099,SSM100 esv2658479 1 14436350 14436655 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5950080,essv6205033,essv5539135,essv6556703,essv5900011,essv6324840,essv5989010,essv6494179,essv5557218,essv6429595,essv5826427,essv6278125,essv5895329,essv6263273,essv6066151,essv6282232,essv5743060,essv6576276,essv6049645,essv6243941,essv5566189,essv6451479,essv5570863,essv6569696,essv5574834,essv6375450,essv5579336,essv6560736,essv5942448,essv6537752,essv5947559,essv6568162,essv5937865,essv6551917,essv5594809,essv6560356,essv5743797,essv6200355,essv5929340,essv6530875,essv6014941,essv6200454,essv5602075,essv6399702,essv5845804,essv6169630,essv5605065,essv6566127,essv5609122,essv6490811,essv5611219,essv6298142,essv5946054,essv6398590,essv5989088,essv6420999,essv5787782,essv6456436,essv5628879,essv6219656,essv5836930,essv6413435,essv5634429,essv6526881,essv5788800,essv6270435,essv6081586,essv6451392,essv5639386,essv6227268,essv5642231,essv6510130,essv5783801,essv6127919,essv5646365,essv6222260,essv5646958,essv6222617,essv5648290,essv6445130,essv5818285,essv6304156,essv5658660,essv6195063,essv5791774,essv6411996,essv5663418,essv6341985,essv5911634,essv6111630,essv5671241,essv6456260,essv5674417,essv6447746,essv5778753,essv6525083,essv5686441,essv6187056,essv5895722,essv6312989,essv5733027,essv6395281,essv5988488,essv6533618,essv5915025,essv6471093,essv5766995,essv6436074,essv5700773,essv6152627,essv6074839,essv6136496,essv5876554,essv6387646,essv5977740,essv6127284,essv5920895,essv6494587,essv5944852,essv6266409,essv6011320,essv6546864,essv5954940,essv6471082,essv5964388,essv6371528,essv5803579,essv6470726,essv5740871,essv6441822,essv5953941,essv6254672,essv5833452,essv6574742,essv5969289,essv6243342,essv5890461,essv6539454,essv5935022,essv6383543,essv6068869,essv6299061,essv6051386,essv6269536,essv5766762,essv6309510,essv6078004,essv6121819,essv5901044,essv6196591,essv5822025,essv6113401,essv5697602,essv6392349,essv6042618,essv6429555,essv5402829,essv6527660,essv5667274,essv6562081,essv5407549,essv6236333,essv5408238,essv6133182,essv5410477,essv6238973,essv5411858,essv6396525,essv5422561,essv6569823,essv5425515,essv6104375,essv5774428,essv6532518,essv5857507,essv6316387,essv5440648,essv6400265,essv5441135,essv6162362,essv5861776,essv6130400,essv5441612,essv6585410,essv5442176,essv6298757,essv5443866,essv6234041,essv5446364,essv6319680,essv5866333,essv5864266,essv5459732,essv5463465,essv5873024,essv5467583,essv5870663,essv5471952,essv5480350,essv6002018,essv6081899,essv5778591,essv5821351,essv5499825,essv5506637,essv5510542,essv5986758,essv5513985 M 1151 0 208 "" HG00106,HG00116,HG00142,HG00160,HG00273,HG00311,HG00334,HG00369,HG00372,HG00373,HG00427,HG00551,HG00554,HG00578,HG00641,HG00732,HG00737,HG01047,HG01055,HG01061,HG01067,HG01069,HG01124,HG01191,HG01251,HG01342,HG01377,HG01462,HG01492,HG01498,NA06986,NA07000,NA11881,NA11931,NA11995,NA12043,NA12044,NA12144,NA12154,NA12155,NA12249,NA12286,NA12348,NA12749,NA12750,NA12775,NA12777,NA12778,NA12828,NA12830,NA12889,NA12890,NA18486,NA18501,NA18505,NA18511,NA18523,NA18526,NA18536,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18567,NA18570,NA18573,NA18576,NA18577,NA18579,NA18592,NA18603,NA18610,NA18617,NA18622,NA18628,NA18636,NA18638,NA18861,NA18867,NA18870,NA18874,NA18940,NA18942,NA18947,NA18949,NA18950,NA18953,NA18956,NA18959,NA18960,NA18965,NA18968,NA18972,NA18973,NA18975,NA18976,NA18977,NA18986,NA18987,NA18988,NA18991,NA19000,NA19005,NA19009,NA19054,NA19062,NA19064,NA19065,NA19072,NA19079,NA19081,NA19084,NA19087,NA19088,NA19098,NA19099,NA19114,NA19116,NA19119,NA19129,NA19137,NA19138,NA19147,NA19153,NA19189,NA19210,NA19225,NA19238,NA19240,NA19248,NA19316,NA19318,NA19327,NA19332,NA19350,NA19374,NA19376,NA19381,NA19397,NA19403,NA19428,NA19467,NA19469,NA19648,NA19651,NA19654,NA19655,NA19660,NA19661,NA19664,NA19679,NA19681,NA19682,NA19684,NA19685,NA19717,NA19722,NA19725,NA19726,NA19732,NA19746,NA19747,NA19749,NA19750,NA19755,NA19759,NA19770,NA19771,NA19776,NA19780,NA19782,NA19785,NA19788,NA19789,NA19818,NA19835,NA19900,NA19920,NA19921,NA20282,NA20340,NA20502,NA20505,NA20506,NA20518,NA20522,NA20524,NA20534,NA20539,NA20542,NA20544,NA20585,NA20586,NA20753,NA20766,NA20772,NA20773,NA20783,NA20786,NA20805,NA20811,NA20812,NA20818,NA20828 esv3429 1 14437040 14439028 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25870 S 1 0 1 Single Asian sample YH "" YH dgv18n67 1 14437049 14438114 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829537,nsv829525 M 31 0 2 "" NA18547,NA18949 nsv829548 1 14437049 14438804 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH 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 14437081 14438939 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28984 S 1 0 1 "" SJK esv2677400 1 14437512 14437716 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5514594,essv6224472,essv5515656,essv5515663,essv6342060,essv6435412,essv5517238,essv6066879,essv5963684,essv6313002,essv5518985,essv5519197,essv6231083,essv5520162,essv5521310,essv6276064,essv5524318,essv6021772,essv5524694,essv6464349,essv5763813,essv5750239,essv5526644,essv6442110,essv5993369,essv5876024,essv5530845,essv6308533,essv6160494,essv5535280,essv6451058,essv6370951,essv5979248,essv5538382,essv6055844,essv5814014,essv6040838,essv6503483,essv6276570,essv6159664,essv5543560,essv5820336,essv5981021,essv6542661,essv5979272,essv6347817,essv5547575,essv5547690,essv5892108,essv6391330,essv5548161,essv6264265,essv5550601,essv5552025,essv5553199,essv6056942,essv5715356,essv5556157,essv6045960,essv6219991,essv5557097,essv6567561,essv5560236,essv6299587,essv6207533,essv6082228,essv6589918,essv5929267,essv5564504,essv5564662,essv5939475,essv5796252,essv6108664,essv5941385,essv6530876,essv5731030,essv6015787,essv6573044,essv5568667,essv5569084,essv6295302,essv6242591,essv5571818,essv6049734,essv6271329,essv6166730,essv6472226,essv6424159,essv6043143,essv6470357,essv6383480,essv5576685,essv6259107,essv5576794,essv6107622,essv5757322,essv6101865,essv6222395,essv6570764,essv6556804,essv5822928,essv6118078,essv6152393,essv5837895,essv6019825,essv6538977,essv6164760,essv6000543,essv5585011,essv5585364,essv5586169,essv5586241,essv6551479,essv5726426,essv6208033,essv5587602,essv6168192,essv5899652,essv6363755,essv6112750,essv6050474,essv5963942,essv5906621,essv6394135,essv5595420,essv6568615,essv5596257,essv6191346,essv6369856,essv5598006,essv5716197,essv6421569,essv5600708,essv5676464,essv5899716,essv6216279,essv5892058,essv6367040,essv6499814,essv5604363,essv5915475,essv5604639,essv6388711,essv5766320,essv6369046,essv5607825,essv6399957,essv6306526,essv5797738,essv5778389,essv5779009,essv6110530,essv6508555,essv6255202,essv6050190,essv5676907,essv6245720,essv5927777,essv5615572,essv6450142,essv5956035,essv6356202,essv5878549,essv5618947,essv6481196,essv5619174,essv6431926,essv5620167,essv5620170,essv5874531,essv5915972,essv5623263,essv5797254,essv6026122,essv6313188,essv5624834,essv5930305,essv5625772,essv6310608,essv6407325,essv6088386,essv5974264,essv6359458,essv5628727,essv5628747,essv5628791,essv5737062,essv5629160,essv6171076,essv5630101,essv6479751,essv5631319,essv5631438,essv5631451,essv6367282,essv6561431,essv6403371,essv6164033,essv5635174,essv6342801,essv6339190,essv6439781,essv6389098,essv6197223,essv5640009,essv5640444,essv6529141,essv6412982,essv5882630,essv6254369,essv5644202,essv5644506,essv5644839,essv5645927,essv5800934,essv5647586,essv6322611,essv6508619,essv5649489,essv6595361,essv6390933,essv6478830,essv6090497,essv5651965,essv5652119,essv6271796,essv6151162,essv5655773,essv6028013,essv6587727,essv6436608,essv6143735,essv6434686,essv6471064,essv5761655,essv6408099,essv5908728,essv5978131,essv6259844,essv6457005,essv6592622,essv6016525,essv5878923,essv6570147,essv5839816,essv6102880,essv6577593,essv5884032,essv5891934,essv6544048,essv5900793,essv5829006,essv6365053,essv5708496,essv6317779,essv6029052,essv5939906,essv6417617,essv6003910,essv5671721,essv6268029,essv5826134,essv5934737,essv5974397,essv5906104,essv6099485,essv6491931,essv5904317,essv6029437,essv5675346,essv5938624,essv6292668,essv6484428,essv6350134,essv6104278,essv6183618,essv6193204,essv5959331,essv6140255,essv5833316,essv6406985,essv5710074,essv6077539,essv6320598,essv5888222,essv5786310,essv6206486,essv6252496,essv5893532,essv5710140,essv6578137,essv6319531,essv5881915,essv5846540,essv6006628,essv5839384,essv6019435,essv5702276,essv5698631,essv5674930,essv5961553,essv5743748,essv5990445,essv6498960,essv6143816,essv5713827,essv5965364,essv5780626,essv5677972,essv6059496,essv6013089,essv6169547,essv6081638,essv6298256,essv6113450,essv5778779,essv6286874,essv5704119,essv6245793,essv6259589,essv5840147,essv6033176,essv5810404,essv5703494,essv6039834,essv6036512,essv6274764,essv6130781,essv5726413,essv6036664,essv5667110,essv6325024,essv6034072,essv6384998,essv6037548,essv5699817,essv6346411,essv5395937,essv5397688,essv6508194,essv5398510,essv6356682,essv6176099,essv5843711,essv5819115,essv5400492,essv5802912,essv5402373,essv5809894,essv6445864,essv5402871,essv6248143,essv6275336,essv6473329,essv6554543,essv5405056,essv5405144,essv6086784,essv6177462,essv6326244,essv5408994,essv5409996,essv5709988,essv5410668,essv5698356,essv5411800,essv5738170,essv5412839,essv5701932,essv6296696,essv5414474,essv6517718,essv6061655,essv5853299,essv5415353,essv5851208,essv6462959,essv6232736,essv5731341,essv5848759,essv6343689,essv5418688,essv6314106,essv5420530,essv5730999,essv6363510,essv6122429,essv5692977,essv5851579,essv5427397,essv6253317,essv5429233,essv6456208,essv5687679,essv6441784,essv5713706,essv6307394,essv5856356,essv5434461,essv5434603,essv5856589,essv6495051,essv5746743,essv5857567,essv5437595,essv5774263,essv5437968,essv5440330,essv6122453,essv5441316,essv6140547,essv6519740,essv5861146,essv6479660,essv5695769,essv5442038,essv5442500,essv5861392,essv5443227,essv5771723,essv6197434,essv5448598,essv5448832,essv6323428,essv6423008,essv6199662,essv6214827,essv5682403,essv6544902,essv5683122,essv5458150,essv5458992,essv6355280,essv5682418,essv6106944,essv5461283,essv5707098,essv5461549,essv6127682,essv5464963,essv6325102,essv6110385,essv5466880,essv6100090,essv5682533,essv6090725,essv5467495,essv6405232,essv5680166,essv5970446,essv5980797,essv5955110,essv5471761,essv5472482,essv6321031,essv5680499,essv6542565,essv6191892,essv5479039,essv5937378,essv6487794,essv5685867,essv6333086,essv5483604,essv6468034,essv6086855,essv5485977,essv5486438,essv5985115,essv6528471,essv6258105,essv6495621,essv6313364,essv5492739,essv5495711,essv5942105,essv5496036,essv6459838,essv5498732,essv5499052,essv6065716,essv5942437,essv6149977,essv5772277,essv5500963,essv6430667,essv6220751,essv5838917,essv5502621,essv5502748,essv6150885,essv5816645,essv6275858,essv5834649,essv5506600,essv6362488,essv5989465,essv5931573,essv6275862,essv5508803,essv6544020,essv5761148,essv6053800,essv5841214,essv5915192,essv6183701,essv6146889,essv5794770 M 1151 0 508 "" HG00100,HG00106,HG00112,HG00114,HG00116,HG00119,HG00122,HG00125,HG00126,HG00131,HG00137,HG00140,HG00142,HG00151,HG00152,HG00154,HG00160,HG00177,HG00179,HG00182,HG00183,HG00185,HG00186,HG00188,HG00189,HG00190,HG00232,HG00237,HG00242,HG00245,HG00246,HG00247,HG00249,HG00253,HG00258,HG00260,HG00263,HG00266,HG00269,HG00270,HG00271,HG00272,HG00273,HG00278,HG00281,HG00282,HG00310,HG00311,HG00312,HG00319,HG00321,HG00324,HG00326,HG00329,HG00330,HG00334,HG00339,HG00357,HG00361,HG00369,HG00372,HG00373,HG00377,HG00403,HG00404,HG00419,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00537,HG00543,HG00553,HG00554,HG00556,HG00557,HG00559,HG00560,HG00566,HG00577,HG00578,HG00580,HG00581,HG00583,HG00584,HG00590,HG00593,HG00596,HG00607,HG00608,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00628,HG00629,HG00635,HG00637,HG00641,HG00650,HG00651,HG00653,HG00654,HG00656,HG00662,HG00663,HG00671,HG00672,HG00683,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG00732,HG00737,HG00740,HG01047,HG01051,HG01055,HG01061,HG01067,HG01069,HG01070,HG01073,HG01075,HG01079,HG01080,HG01097,HG01102,HG01107,HG01108,HG01113,HG01124,HG01125,HG01136,HG01168,HG01171,HG01176,HG01183,HG01190,HG01191,HG01198,HG01251,HG01334,HG01342,HG01350,HG01354,HG01357,HG01359,HG01366,HG01374,HG01375,HG01377,HG01384,HG01389,HG01437,HG01462,HG01489,HG01492,HG01494,HG01522,NA06984,NA06986,NA07000,NA07048,NA07051,NA10847,NA11920,NA11931,NA11933,NA11994,NA11995,NA12003,NA12043,NA12044,NA12058,NA12144,NA12154,NA12155,NA12249,NA12286,NA12342,NA12348,NA12383,NA12400,NA12489,NA12748,NA12750,NA12775,NA12777,NA12778,NA12830,NA12843,NA12889,NA12890,NA18486,NA18501,NA18508,NA18510,NA18511,NA18516,NA18519,NA18522,NA18523,NA18526,NA18532,NA18534,NA18536,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18549,NA18550,NA18552,NA18553,NA18555,NA18558,NA18559,NA18561,NA18562,NA18564,NA18565,NA18567,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18595,NA18596,NA18597,NA18603,NA18605,NA18606,NA18608,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18633,NA18635,NA18636,NA18637,NA18638,NA18853,NA18858,NA18861,NA18867,NA18870,NA18874,NA18912,NA18934,NA18940,NA18942,NA18947,NA18949,NA18950,NA18951,NA18953,NA18956,NA18959,NA18960,NA18963,NA18964,NA18965,NA18973,NA18977,NA18982,NA18983,NA18985,NA18986,NA18987,NA18988,NA18999,NA19000,NA19004,NA19005,NA19007,NA19009,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19067,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088,NA19093,NA19099,NA19114,NA19116,NA19129,NA19130,NA19137,NA19138,NA19147,NA19189,NA19197,NA19213,NA19223,NA19225,NA19235,NA19248,NA19256,NA19312,NA19313,NA19316,NA19332,NA19338,NA19347,NA19350,NA19360,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19381,NA19391,NA19395,NA19396,NA19397,NA19398,NA19399,NA19403,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19438,NA19443,NA19445,NA19446,NA19449,NA19451,NA19452,NA19457,NA19462,NA19466,NA19467,NA19468,NA19469,NA19470,NA19474,NA19648,NA19651,NA19652,NA19654,NA19655,NA19660,NA19661,NA19664,NA19675,NA19679,NA19681,NA19682,NA19685,NA19704,NA19707,NA19711,NA19713,NA19722,NA19725,NA19726,NA19746,NA19749,NA19755,NA19776,NA19780,NA19782,NA19818,NA19819,NA19835,NA19900,NA19904,NA19909,NA19914,NA19916,NA19920,NA19921,NA19982,NA20317,NA20502,NA20504,NA20505,NA20506,NA20507,NA20508,NA20512,NA20513,NA20518,NA20519,NA20521,NA20522,NA20528,NA20529,NA20530,NA20534,NA20535,NA20542,NA20544,NA20581,NA20585,NA20586,NA20588,NA20589,NA20753,NA20754,NA20756,NA20758,NA20759,NA20760,NA20766,NA20768,NA20770,NA20771,NA20772,NA20773,NA20786,NA20792,NA20799,NA20804,NA20805,NA20806,NA20811,NA20812,NA20816,NA20818,NA20828 esv2744108 1 14454785 14454923 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6941778 S 96 0 1 "" SSM023 nsv528033 1 14541312 14546009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704564 S 2026 0 1 "" esv2664939 1 14548055 14557092 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6179776 S 1151 0 1 "" NA12058 esv2663195 1 14560853 14564015 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5486359 S 1151 0 1 "" NA19076 esv2677279 1 14619221 14622441 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6171442,essv5983468,essv5825058 M 1151 0 3 "" NA19435,NA19445,NA19453 nsv460494 1 14676909 14703854 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537055 S 1557 0 1 "" 1780862466_A nsv520614 1 14677729 14678726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697519 S 2026 0 1 "" nsv518697 1 14677729 14688707 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696148 S 2026 0 1 "" nsv833203 1 14679200 14720939 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442885,nssv1442840,nssv1442852,nssv1442929,nssv1442896,nssv1442940,nssv1442863,nssv1442918,nssv1442907,nssv1442874 M 95 5 5 "" esv2664734 1 14731112 14734654 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5738570 S 1151 0 1 "" NA12761 esv2673563 1 14735785 14742259 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6532160 S 1151 0 1 "" NA18541 esv2617537 1 14738502 14740043 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289167 S 1 0 1 "" NA18507 nsv512719 1 14819175 14819225 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625344 S 1 1 0 "" 1 esv1086173 1 14841005 14841005 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139423 S 2 1 0 "" HuRef nsv833314 1 14899155 15068876 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442951 S 95 0 1 KAZN nsv460506 1 14907214 14981920 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537067 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KAZN HGDP00554 nsv3298 1 14912307 14939486 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7914 S 9 1 0 KAZN NA12156 nsv470697 1 14960173 15044796 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547709 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KAZN HGDP00890 esv2637393 1 14978582 14979561 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269600 S 1 1 0 KAZN NA18507 esv1497348 1 14979008 14979008 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929982 S 2 1 0 KAZN HuRef nsv871585 1 14981920 15072614 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 14981920 15111927 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 15077567 15126214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524751 S 6533 0 1 KAZN SP55209 esv2670554 1 15089657 15091690 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5701194 S 1151 0 1 KAZN NA18536 esv8986 1 15113608 15113688 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31427 S 1 1 0 KAZN SJK esv2744119 1 15120012 15120719 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6832595,essv6692759 M 96 0 2 KAZN SSM037,SSM082 esv1214811 1 15194463 15194463 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234331 S 2 1 0 KAZN HuRef dgv18e201 1 15199304 15199935 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2744153,esv2744130 M 96 0 23 KAZN SSM003,SSM012,SSM013,SSM017,SSM023,SSM025,SSM026,SSM028,SSM029,SSM036,SSM039,SSM041,SSM042,SSM047,SSM064,SSM067,SSM068,SSM070,SSM072,SSM079,SSM083,SSM086,SSM087 esv2744142 1 15199394 15199514 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972340 S 96 0 1 KAZN SSM029 esv2744164 1 15199478 15199633 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6707266 S 96 0 1 KAZN SSM041 esv2744175 1 15199575 15199734 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6821180 S 96 0 1 KAZN SSM079 esv2744186 1 15208653 15211219 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6876787 S 96 0 1 KAZN SSM012 nsv820102 1 15256262 15261328 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 15274921 15279573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11412 S 451 0 1 KAZN NA19099 nsv441681 1 15276484 15279296 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KAZN esv2744197 1 15284664 15285374 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6710579,essv6666893,essv6780868,essv6929057 M 96 0 4 KAZN SSM020,SSM030,SSM042,SSM068 esv2744208 1 15284787 15284948 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6710579 S 96 0 1 KAZN SSM042 esv2656721 1 15288308 15288577 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6013489,essv6108403,essv6577580 M 1151 0 3 KAZN HG01101,NA19657,NA19779 esv2676425 1 15326513 15327631 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6286986,essv6543636,essv6113589,essv5959097,essv6064396 M 1151 0 5 KAZN NA18505,NA18874,NA19108,NA19190,NA19313 esv27978 1 15326675 15327295 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13462 S 451 0 1 KAZN NA19190 nsv520075 1 15341055 15341413 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697211 S 2026 0 1 KAZN nsv527648 1 15341055 15343094 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704119 S 2026 0 1 KAZN nsv517844 1 15341055 15344403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695248 S 2026 0 1 KAZN nsv521566 1 15343094 15347363 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698183 S 2026 1 0 KAZN nsv871490 1 15352820 15388673 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 15360808 15405489 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871756,nsv871083 M 6533 0 2 KAZN MS13770,MS17208 esv22036 1 15364967 15365622 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11732 S 451 0 1 KAZN NA12776 esv2744219 1 15365037 15365734 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874702,essv6759040,essv6836186,essv6747774,essv6921715,essv6744930,essv6668948,essv6669210,essv6889006,essv6972341,essv6885982,essv6961549,essv6733482,essv6801616,essv6813167,essv6843832,essv6764159,essv6816580,essv6863957,essv6847015,essv6682825,essv6692760,essv6816710,essv6859188,essv6793282,essv6675197 M 96 0 26 KAZN SSM005,SSM010,SSM011,SSM018,SSM027,SSM029,SSM031,SSM032,SSM034,SSM037,SSM049,SSM055,SSM056,SSM061,SSM063,SSM071,SSM073,SSM077,SSM078,SSM083,SSM086,SSM088,SSM089,SSM092,SSM096,SSM097 esv1011013 1 15365289 15365398 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 15365291 15365401 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823225 S 2 0 1 KAZN HuRef esv2744230 1 15365325 15365563 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836186,essv6759040,essv6744930,essv6668948,essv6889006,essv6972341,essv6961549,essv6801616,essv6813167,essv6843832,essv6885982,essv6847015,essv6863957,essv6816580,essv6692760,essv6682825,essv6793282,essv6675197,essv6859188 M 96 0 19 KAZN SSM011,SSM027,SSM029,SSM031,SSM032,SSM034,SSM037,SSM055,SSM061,SSM071,SSM073,SSM077,SSM078,SSM083,SSM086,SSM088,SSM089,SSM096,SSM097 esv2678969 1 15365338 15365503 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5723719,essv6069641,essv6220232,essv5828094,essv6556702,essv6534079,essv5540657,essv5996205,essv6300292,essv5554665,essv5562131,essv5753845,essv5572955,essv5760169,essv5589171,essv6417866,essv5676598,essv6410464,essv5604942,essv6266633,essv6229821,essv5895506,essv6406302,essv6166905,essv6160268,essv6267676,essv6121185,essv6565358,essv5633833,essv6127500,essv5638545,essv6484942,essv5653658,essv5667515,essv5915598,essv6199069,essv6041768,essv6570486,essv5825410,essv5714361,essv6323738,essv6008282,essv5713653,essv5943948,essv6189080,essv5808706,essv5676377,essv6462213,essv5397554,essv5776461,essv5737281,essv6185332,essv5443769,essv5687484,essv5717724,essv5452369,essv6263364,essv5872659,essv6053815,essv6255549,essv6569702,essv5512288 M 1151 0 62 KAZN HG00139,HG00154,HG00249,HG00252,HG00260,HG00261,HG00268,HG00276,HG00278,HG00280,HG00284,HG00310,HG00313,HG00315,HG00318,HG00319,HG00323,HG00336,HG00337,HG00353,HG00418,HG00419,HG00428,HG00436,HG00437,HG00442,HG00443,HG00449,HG00473,HG00475,HG00478,HG00479,HG00500,HG00512,HG00513,HG00525,HG00537,HG00557,HG00583,HG00662,HG00663,HG00684,HG00698,HG00699,HG00701,HG00707,HG01070,HG01072,HG01082,HG01334,NA18534,NA18543,NA18546,NA18602,NA18605,NA18606,NA18612,NA18613,NA18623,NA18624,NA18633,NA18636 esv1186245 1 15365439 15365439 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944374 S 2 1 0 KAZN HuRef nsv870788 1 15368553 15424731 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530419 S 6533 0 1 KAZN MS10311 esv2744241 1 15374794 15375510 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6759041,essv6769512,essv6941780,essv6824979,essv6913999,essv6789147 M 96 0 6 KAZN SSM016,SSM023,SSM061,SSM065,SSM070,SSM080 esv2313486 1 15375023 15375435 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985131 S 1 0 1 KAZN NA18507 esv2744253 1 15375103 15375304 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6941780,essv6769512,essv6913999,essv6789147 M 96 0 4 KAZN SSM016,SSM023,SSM065,SSM070 esv2744264 1 15375271 15375421 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6824979 S 96 0 1 KAZN SSM080 esv2744275 1 15376047 15376960 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6666894 S 96 0 1 KAZN SSM030 esv2744286 1 15389970 15390567 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6769513,essv6941781,essv6666895 M 96 0 3 KAZN SSM023,SSM030,SSM065 nsv833425 1 15409826 15618224 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442963 S 95 1 0 C1orf126,FHAD1,KAZN,TMEM51 nsv508913 1 15418886 15491957 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619772 S 4 1 0 C1orf126,KAZN,TMEM51 NA10860 esv2618588 1 15436764 15436830 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193142 S 1 0 1 KAZN NA18507 esv22618 1 15456143 15461008 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15067 S 451 0 1 C1orf126 NA18502 esv2664046 1 15486934 15491463 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6539898,essv5618394,essv5981893,essv6211506,essv5998459,essv6165781 M 1151 0 6 TMEM51 HG01108,HG01198,NA19102,NA19373,NA19466,NA20282 nsv437203 1 15487444 15490324 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467084 S 60 0 1 Samples from several populations that are part of the HapMap project. TMEM51 NA19103 nsv441682 1 15489185 15490286 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TMEM51 nsv519926 1 15489817 15489884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690383,nssv689561,nssv687857,nssv659518 M 2026 0 4 TMEM51 esv271128 1 15490102 15490187 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 15490102 15490187 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 15500879 15510662 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178024 M 24 TMEM51 nsv460550 1 15518792 15550525 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537098 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TMEM51 HGDP00863 esv2750811 1 15530260 15550525 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981606,essv6981605,essv6985613 M 771 1 0 TMEM51 BEC_304 nsv871101 1 15532130 15569712 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 15550989 15551990 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251821 S 1 1 0 "" NA18507 esv2423211 1 15557232 15559147 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345612 S 1 0 1 "" NA18507 esv2672360 1 15557812 15558556 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6179960,essv6551358,essv5545255,essv5590991,essv5828760,essv6019157,essv5817642,essv5755585,essv6467816,essv6554736 M 1151 0 10 "" NA19130,NA19383,NA19399,NA19428,NA19435,NA19444,NA19453,NA19701,NA19834,NA20291 esv28285 1 15576232 15578112 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15216 S 451 0 1 FHAD1 NA12749 esv27394 1 15581325 15582378 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14001 S 451 1 0 FHAD1 NA18861 nsv517234 1 15585613 15593666 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654089,nssv691051,nssv669267,nssv678288 M 2026 4 0 FHAD1 esv2744297 1 15597454 15597744 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6937676 S 96 0 1 FHAD1 SSM022 esv2508152 1 15640659 15641550 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282605 S 1 1 0 FHAD1 NA18507 nsv833536 1 15650001 15855325 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442974,nssv1442985 M 95 0 2 CASP9,CELA2A,CELA2B,CTRC,DNAJC16,EFHD2,FHAD1 esv2671419 1 15657366 15659494 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6070034 S 1151 0 1 FHAD1 NA19703 nsv460561 1 15687059 15750217 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537108 S 1557 0 1 EFHD2,FHAD1 NINDS_60 esv2117572 1 15772321 15772653 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687770 S 1 0 1 CTRC NA18507 esv2667593 1 15774731 15781767 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6506394 S 1151 0 1 "" HG01134 esv2744308 1 15781951 15802404 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6797448,essv6921716,essv6750595,essv6824980,essv6780869,essv6868711,essv6843843,essv6692761,essv6863958,essv6902529,essv6675199 M 96 0 11 CELA2A SSM011,SSM013,SSM018,SSM032,SSM037,SSM057,SSM068,SSM072,SSM080,SSM089,SSM090 nsv441683 1 15792424 15811221 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CELA2A,CELA2B esv2744319 1 15794969 15814637 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6910041,essv6880418,essv6742138,essv6807374,essv6748342,essv6707267 M 96 0 6 CELA2A,CELA2B SSM008,SSM015,SSM041,SSM053,SSM075,SSM094 nsv818056 1 15796808 15808872 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 15913142 15913612 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18278 S 451 1 0 "" NA19240 dgv17e199 1 15920609 15937305 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2672627,esv2660595 M 1151 0 1 "" NA19834 esv2663683 1 15923946 15927366 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6404860,essv6046980,essv6384427,essv6190839 M 1151 0 4 "" NA19439,NA19443,NA19469,NA19470 nsv471769 1 15932973 15938422 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646050 M 0.128 95 "" esv2661096 1 15935091 15938226 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5802283,essv6566730,essv6487434,essv6248093 M 1151 0 4 "" NA18499,NA18510,NA19172,NA19235 esv259731 1 15944558 15947145 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 esv2678818 1 16001499 16009817 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5600879,essv5804859 M 1151 0 2 "" HG01134,HG01357 dgv171n71 1 16001588 16087164 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 16001588 16161836 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699908 S 2026 0 1 FBLIM1,FLJ37453,PLEKHM2,SLC25A34,TMEM82,UQCRHL esv28978 1 16009544 16011390 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21090 S 451 1 0 PLEKHM2 NA06985 dgv11n27 1 16015986 16095316 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460583,nsv460572 M 1557 2 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 HGDP00130,HGDP00160 esv2674903 1 16019636 16022170 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6211324 S 1151 0 1 PLEKHM2 HG00595 dgv172n71 1 16028373 16082354 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 16043591 16130068 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619773 S 4 1 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 NA10860 dgv173n71 1 16048005 16097237 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 16048005 16110815 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 16048005 16123199 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 16048005 16188681 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 16075906 16126207 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537135 S 1557 0 1 FBLIM1 NINDS_70 nsv527046 1 16087260 16110815 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703422 S 2026 0 1 FBLIM1 nsv833647 1 16120537 16278829 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442996 S 95 0 1 FLJ37453,SPEN,UQCRHL,ZBTB17 esv2744330 1 16125299 16125485 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6946493 S 96 0 1 "" SSM024 nsv871162 1 16126207 16408917 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 16127480 16155107 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv939,essv22007,essv19370 M 271 0 0 UQCRHL NA07019,NA12815 esv2672537 1 16129582 16131430 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6381980,essv5798425,essv6264811,essv6410505,essv6343216,essv6315106,essv6344540,essv6253229,essv6439037,essv6452740,essv6227263,essv6036373,essv5847534,essv6256469,essv5872941,essv5493439,essv5888075,essv5751674,essv6340165 M 1151 0 19 "" HG00261,NA18873,NA18950,NA18959,NA18988,NA19004,NA19060,NA19092,NA19116,NA19130,NA19172,NA19236,NA19713,NA19716,NA19835,NA19900,NA19920,NA20582,NA20799 nsv3409 1 16136483 16179189 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8042 S 9 0 1 FLJ37453,SPEN NA12156 esv2677120 1 16146192 16148782 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5659106,essv5492044 M 1151 0 2 "" NA18616,NA18617 nsv511126 1 16149301 16161836 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626032 S 1 0 1 FLJ37453 1 dgv18e199 1 16150338 16156992 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2667258,esv2671254,esv2669666 M 1151 0 76 "" HG00553,HG00554,HG00640,HG00641,HG00732,HG00737,HG00740,HG01047,HG01051,HG01052,HG01055,HG01060,HG01069,HG01072,HG01079,HG01080,HG01082,HG01095,HG01097,HG01098,HG01101,HG01102,HG01107,HG01167,HG01168,HG01174,HG01176,HG01182,HG01187,HG01191,HG01197,HG01515,HG01516,HG01519,NA20502,NA20505,NA20506,NA20515,NA20516,NA20517,NA20519,NA20520,NA20522,NA20527,NA20530,NA20533,NA20535,NA20536,NA20537,NA20538,NA20540,NA20542,NA20582,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20759,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20786,NA20787,NA20796,NA20807,NA20809,NA20810,NA20811,NA20815 nsv511677 1 16151770 16155798 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626315 S 1 0 1 "" 1 esv2744341 1 16151897 16155437 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874703,essv6895846,essv6836188,essv6747775,essv6946494,essv6725848,essv6744933,essv6666896,essv6784576,essv6750596,essv6972342,essv6937677,essv6703862,essv6742139,essv6954739,essv6686152,essv6876798,essv6868712,essv6776934,essv6892317,essv6810338,essv6807377,essv6906098,essv6847016,essv6682826,essv6756547,essv6804401,essv6714242,essv6859190,essv6859189,essv6707268 M 96 0 30 "" SSM009,SSM012,SSM014,SSM022,SSM024,SSM026,SSM029,SSM030,SSM034,SSM035,SSM040,SSM041,SSM043,SSM046,SSM053,SSM055,SSM056,SSM057,SSM059,SSM067,SSM074,SSM075,SSM076,SSM083,SSM086,SSM088,SSM090,SSM092,SSM098,SSM099 esv1010744 1 16151931 16158109 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 dgv19e199 1 16151935 16155538 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2658702,esv2666280,esv2663874 M 1151 0 310 "" HG00111,HG00112,HG00114,HG00116,HG00117,HG00119,HG00120,HG00122,HG00124,HG00125,HG00126,HG00127,HG00133,HG00142,HG00143,HG00148,HG00149,HG00151,HG00152,HG00154,HG00155,HG00156,HG00157,HG00158,HG00159,HG00160,HG00171,HG00173,HG00176,HG00180,HG00182,HG00185,HG00231,HG00233,HG00237,HG00239,HG00242,HG00244,HG00246,HG00247,HG00249,HG00250,HG00251,HG00253,HG00256,HG00257,HG00258,HG00261,HG00262,HG00263,HG00264,HG00265,HG00267,HG00268,HG00271,HG00272,HG00274,HG00277,HG00280,HG00281,HG00282,HG00285,HG00306,HG00309,HG00312,HG00323,HG00327,HG00328,HG00329,HG00334,HG00335,HG00336,HG00337,HG00342,HG00343,HG00345,HG00366,HG00367,HG00369,HG00373,HG00377,HG00478,HG00479,HG00501,HG00512,HG00524,HG00525,HG00553,HG00554,HG00559,HG00578,HG00580,HG00581,HG00607,HG00619,HG00635,HG00637,HG00640,HG00641,HG00656,HG00671,HG00701,HG00702,HG00707,HG00732,HG00737,HG00740,HG01047,HG01052,HG01055,HG01060,HG01066,HG01069,HG01072,HG01079,HG01080,HG01082,HG01095,HG01101,HG01107,HG01113,HG01125,HG01167,HG01174,HG01176,HG01187,HG01191,HG01250,HG01251,HG01334,HG01342,HG01351,HG01353,HG01356,HG01359,HG01360,HG01365,HG01374,HG01375,HG01377,HG01383,HG01389,HG01437,HG01441,HG01456,HG01461,HG01491,HG01492,HG01494,HG01495,HG01497,HG01498,HG01515,HG01518,NA06986,NA06989,NA07048,NA07056,NA07346,NA07357,NA11829,NA11830,NA11881,NA11894,NA11918,NA11920,NA11930,NA11931,NA11932,NA11933,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12058,NA12144,NA12156,NA12249,NA12272,NA12273,NA12275,NA12286,NA12341,NA12342,NA12347,NA12400,NA12413,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12775,NA12776,NA12778,NA12813,NA12828,NA12830,NA12878,NA12889,NA12890,NA12891,NA18542,NA18544,NA18564,NA18599,NA18609,NA18615,NA18618,NA18627,NA18853,NA18868,NA18873,NA18874,NA18924,NA19311,NA19316,NA19360,NA19372,NA19376,NA19379,NA19385,NA19391,NA19393,NA19398,NA19429,NA19463,NA19648,NA19651,NA19654,NA19660,NA19663,NA19664,NA19670,NA19675,NA19678,NA19679,NA19682,NA19684,NA19685,NA19701,NA19704,NA19719,NA19720,NA19725,NA19726,NA19728,NA19729,NA19731,NA19732,NA19750,NA19756,NA19771,NA19774,NA19776,NA19783,NA19785,NA19786,NA19788,NA20126,NA20278,NA20296,NA20314,NA20332,NA20348,NA20502,NA20509,NA20512,NA20516,NA20519,NA20520,NA20530,NA20533,NA20536,NA20537,NA20540,NA20542,NA20582,NA20586,NA20588,NA20589,NA20753,NA20754,NA20759,NA20760,NA20766,NA20769,NA20770,NA20771,NA20774,NA20783,NA20792,NA20796,NA20797,NA20799,NA20800,NA20804,NA20807,NA20811,NA20813,NA20814,NA20815,NA20818,NA20826 nsv498663 1 16151943 16155433 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585393 S 9 0 1 "" esv29597 1 16152274 16155502 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17422 S 451 0 12 "" NA06985,NA11894,NA11931,NA11993,NA12004,NA12156,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510 nsv513982 1 16152277 16153957 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627625 S 1414 0 1 "" esv2668319 1 16185829 16193008 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6530617,essv6100111 M 1151 0 2 SPEN HG00654,NA18534 esv2744352 1 16185907 16193059 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6801154,essv6761854,essv6731930 M 96 0 3 SPEN SSM001,SSM002,SSM062 nsv829559 1 16185986 16192955 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422361,nssv1428817,nssv1439448 M 31 0 3 SPEN AK12,NA18537,NA18552 esv2665696 1 16186430 16187131 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6542681,essv5926085,essv5956490,essv5447900 M 1151 0 4 SPEN HG00525,HG00531,HG00654,NA19009 esv22591 1 16210276 16213462 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17906 S 451 1 0 SPEN NA12287 nsv508936 1 16242347 16507520 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619774,nssv619775 M 4 1 0 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,SPEN,ZBTB17 NA10860 dgv174n71 1 16259813 16582686 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 16295523 16467014 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 16310288 16373124 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 16331909 16380582 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 16331909 16393357 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871325,nsv871678 M 6533 2 0 C1orf64,CLCNKA,CLCNKB,FAM131C,HSPB7 IS37784,IS38430 dgv176n71 1 16331909 16414088 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 16331909 16466003 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697249 S 2026 0 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 nsv871485 1 16331909 16514343 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 16331909 16552772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699909 S 2026 0 1 ARHGEF19,C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 dgv12n27 1 16340460 16368403 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460618,nsv460605 M 1557 0 2 CLCNKA,HSPB7 HGDP00525,HGDP00971 nsv460629 1 16340460 16380582 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537170 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CLCNKA,CLCNKB,HSPB7 HGDP01090 nsv470698 1 16340460 16396806 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547710 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CLCNKA,CLCNKB,FAM131C,HSPB7 HGDP00661 dgv13n27 1 16346457 16376831 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460651,nsv460640 M 1557 2 0 CLCNKA,CLCNKB HGDP00906,HGDP00941 nsv870526 1 16346457 16393357 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 16346942 16390883 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10646,esv17676 M 451 8 0 CLCNKA,CLCNKB,FAM131C NA12156,NA12489,NA12828,NA18508,NA18858,NA18861,NA18909,NA19108 esv2744364 1 16347137 16379230 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836190,essv6710580,essv6874704,essv6836189,essv6946495,essv6747777,essv6769514,essv6821181,essv6725849,essv6921717,essv6754152,essv6950552,essv6784587,essv6750599,essv6669221,essv6910042,essv6883255,essv6972343,essv6743041,essv6950550,essv6937678,essv6784992,essv6824981,essv6780870,essv6895847,essv6925688,essv6828997,essv6914000,essv6801265,essv6961550,essv6917425,essv6828996,essv6776935,essv6892318,essv6906099,essv6839969,essv6871712,essv6843854,essv6793283,essv6718163,essv6729616,essv6764160,essv6816581,essv6748353,essv6917424,essv6967923,essv6756548,essv6675200,essv6714244,essv6718865,essv6718876 M 96 0 45 CLCNKA,CLCNKB SSM001,SSM002,SSM005,SSM007,SSM008,SSM009,SSM011,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM022,SSM024,SSM025,SSM027,SSM028,SSM029,SSM032,SSM042,SSM043,SSM044,SSM046,SSM047,SSM056,SSM057,SSM059,SSM063,SSM065,SSM067,SSM068,SSM069,SSM071,SSM078,SSM079,SSM080,SSM081,SSM083,SSM084,SSM091,SSM092,SSM095,SSM098,SSM099 dgv2n64 1 16348412 16368324 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818078,nsv818067 M 112 5 0 CLCNKA NA19143,NA19172,NA19173,NA19193,NA19194 esv8597 1 16349786 16371695 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31038 S 1 0 1 CLCNKA,CLCNKB SJK esv2674711 1 16354481 16376278 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6534826,essv6073654,essv5945246,essv5449000 M 1151 0 4 CLCNKA,CLCNKB HG00159,NA18557,NA18596,NA20533 esv2665318 1 16357445 16362492 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6423982,essv5907250,essv6510317,essv5524902,essv6444250,essv5548759,essv6357323,essv6292749,essv6378765,essv5559776,essv6514405,essv6139055,essv6577191,essv6116357,essv6564723,essv5728168,essv6443514,essv5595661,essv6565313,essv6155862,essv6458525,essv6126669,essv5620482,essv5620722,essv6096342,essv5800906,essv6079824,essv6065374,essv5970021,essv5689713,essv5957745,essv6264913,essv5832972,essv6206665,essv5907875,essv5721139,essv5986462,essv5778558,essv5957852,essv6282724,essv6274071,essv5738567,essv6112083,essv5671555,essv6035088,essv6300428,essv5422545,essv5429090,essv6340268,essv5761570,essv5868906,essv5937904,essv6048525,essv6260115,essv5477532,essv5893680,essv5483132,essv5484840,essv6137777,essv5959997,essv5994393,essv5813713,essv5721884 M 1151 0 63 CLCNKA HG00404,HG00418,HG00427,HG00428,HG00436,HG00442,HG00448,HG00449,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00533,HG00542,HG00543,HG00556,HG00557,HG00559,HG00560,HG00565,HG00566,HG00578,HG00580,HG00581,HG00583,HG00584,HG00590,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00619,HG00620,HG00626,HG00628,HG00629,HG00634,HG00635,HG00654,HG00657,HG00662,HG00663,HG00672,HG00684,HG00689,HG00690,HG00692,HG00698,HG00699,HG00701,HG00704,HG00708 dgv177n71 1 16358085 16467924 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 16359361 16403632 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426375 S 31 1 0 CLCNKA,CLCNKB,FAM131C AK6 esv2434454 1 16361125 16385507 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273432 S 1 0 1 CLCNKB,FAM131C NA18507 nsv511678 1 16361428 16384130 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626316 S 1 0 1 CLCNKB 1 esv995840 1 16362090 16385344 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 dgv19e201 1 16362564 16389155 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2742785,esv2741777,esv2741349,esv2742488,esv2740950,esv2742830,esv2742828,esv2742822,esv2742867,esv2742913,esv2742947,esv2741456,esv2742008,esv2742988,esv2742087,esv2742786,esv2742027,esv2742742,esv2742049,esv2743060,esv2741665,esv2742048,esv2742086,esv2740760,esv2740915,esv2742460,esv2742578,esv2740860,esv2742120,esv2742676,esv2743159,esv2743157,esv2743160,esv2742425,esv2740810,esv2740981,esv2743116,esv2743310,esv2741630,esv2742603,esv2741083,esv2742186,esv2741082,esv2741126,esv2742478,esv2740758,esv2741927,esv2742424,esv2741854,esv2741171,esv2740827,esv2741168,esv2742868,esv2742215,esv2744375,esv2742214,esv2741204,esv2741203,esv2743253,esv2742579,esv2741275,esv2740952,esv2741302,esv2742050,esv2740964,esv2741348,esv2742282,esv2742285,esv2743035,esv2742308,esv2740828,esv2741605,esv2741432,esv2741427,esv2742158,esv2741532,esv2742343,esv2742344,esv2741507,esv2741533,esv2742378,esv2741557,esv2743158,esv2741556,esv2743311,esv2741581,esv2741582,esv2742398,esv2742397,esv2742677,esv2741950,esv2741855,esv2742525,esv2742030,esv2741741,esv2741739,esv2742462,esv2742987,esv2741822,esv2742704,esv2742283,esv2742487,esv2741410,esv2742502,esv2742477,esv2741590,esv2741778,esv2742741,esv2741629 M 96 0 84 CLCNKB,FAM131C SSM001,SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM030,SSM031,SSM032,SSM033,SSM034,SSM036,SSM037,SSM038,SSM042,SSM043,SSM044,SSM045,SSM047,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM057,SSM059,SSM061,SSM062,SSM063,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM074,SSM076,SSM077,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM097,SSM098,SSM100 nsv436443 1 16363261 16384355 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466694 S 2 0 1 Samples from several populations that are part of the HapMap project. CLCNKB,FAM131C NA18505 dgv20e199 1 16363781 16389166 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2675551,esv2677387,esv2667784,esv2657098 M 1151 0 106 CLCNKB,FAM131C HG00100,HG00103,HG00149,HG00151,HG00171,HG00173,HG00174,HG00188,HG00265,HG00311,HG00326,HG00367,HG00377,HG00443,HG00531,HG00542,HG00565,HG00566,HG00590,HG00595,HG00611,HG00613,HG00620,HG00650,HG00656,HG00671,HG00732,HG00740,HG01066,HG01112,HG01136,HG01168,HG01250,HG01254,HG01390,HG01455,HG01456,HG01465,HG01488,HG01494,HG01518,HG01519,HG01521,NA11831,NA11832,NA18488,NA18550,NA18561,NA18567,NA18573,NA18574,NA18582,NA18614,NA18619,NA18620,NA18623,NA18625,NA18637,NA18940,NA18960,NA18963,NA18964,NA18977,NA18988,NA19002,NA19004,NA19010,NA19058,NA19064,NA19070,NA19072,NA19074,NA19078,NA19082,NA19083,NA19084,NA19235,NA19248,NA19360,NA19660,NA19661,NA19747,NA19758,NA19774,NA19779,NA19782,NA19783,NA19786,NA19819,NA20278,NA20289,NA20314,NA20334,NA20344,NA20348,NA20518,NA20522,NA20533,NA20760,NA20761,NA20770,NA20804,NA20807,NA20809,NA20818,NA20828 dgv1e19 1 16363800 16389174 CNV Loss Ahn et al 2009 19470904 Sequencing esv5890,esv5593 M 1 0 1 CLCNKB,FAM131C SJK nsv871112 1 16363925 16393357 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 16364027 16389792 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93058,essv95958,essv97715 M 51 3 0 CLCNKB,FAM131C 21863,22127,22278 nsv441684 1 16368131 16379331 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CLCNKB esv6377 1 16376506 16386270 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28818 S 1 0 1 CLCNKB,FAM131C SJK esv2672024 1 16376516 16386257 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6563180,essv5723037,essv5522656,essv6024964,essv5528176,essv5531874,essv6025595,essv5880309,essv5543186,essv5543906,essv6425458,essv5988070,essv6510333,essv5732786,essv5550252,essv5918552,essv6320475,essv6215867,essv6247239,essv6155819,essv5910472,essv5563176,essv6170837,essv6076160,essv6250085,essv5568392,essv5570627,essv5882752,essv5578112,essv5581282,essv6318323,essv5586249,essv5592664,essv5725607,essv5668780,essv6444703,essv6311138,essv6406274,essv6159718,essv5609847,essv6455941,essv6473131,essv6003113,essv5720498,essv5994980,essv6514107,essv6375733,essv6310035,essv5797166,essv5633393,essv6529133,essv6294008,essv6243403,essv6319461,essv5955756,essv5647478,essv5880159,essv6430086,essv5649772,essv6465427,essv5895599,essv5653009,essv5779194,essv6552675,essv5658413,essv6058914,essv5950603,essv6402376,essv5937119,essv5666832,essv6563042,essv6313064,essv6001397,essv5820488,essv6282654,essv6385341,essv6590246,essv5793220,essv5988552,essv6089675,essv6543773,essv6214660,essv5664202,essv6408607,essv6021311,essv6004070,essv5888412,essv6295563,essv6109863,essv6556176,essv6303815,essv5992121,essv6172582,essv5843872,essv6417678,essv5408661,essv5414192,essv5697412,essv6566576,essv5416876,essv6225479,essv5421071,essv6499853,essv5727877,essv5858629,essv5687736,essv6334335,essv5857865,essv6526622,essv5775668,essv6078023,essv6535746,essv5861237,essv6086404,essv6143236,essv5866483,essv6364016,essv6578329,essv5456993,essv6355273,essv6512664,essv5460695,essv5738637,essv5868719,essv5468519,essv5726526,essv5479995,essv5904448,essv5485270,essv5947711,essv5996592,essv6272791,essv5494124,essv6466036,essv5804802,essv5956397,essv5846842,essv5708728,essv6329539,essv5498358,essv6203399,essv6528095,essv6217185,essv6091489,essv6597076,essv6060239,essv5506546,essv6192930,essv6206305,essv5949634,essv5509924,essv5795038 M 1151 0 152 CLCNKB,FAM131C HG00120,HG00133,HG00146,HG00157,HG00233,HG00565,HG01097,HG01113,HG01254,HG01356,HG01383,HG01440,HG01515,HG01516,HG01518,HG01550,HG01551,NA06985,NA06986,NA07037,NA07051,NA07056,NA10851,NA11892,NA11918,NA11920,NA11933,NA11995,NA12155,NA12273,NA12286,NA12287,NA12340,NA12347,NA12348,NA12383,NA12413,NA12489,NA12716,NA12717,NA12748,NA12761,NA12777,NA12778,NA12827,NA12829,NA12830,NA12842,NA18488,NA18502,NA18542,NA18547,NA18552,NA18562,NA18564,NA18572,NA18574,NA18576,NA18592,NA18609,NA18637,NA18916,NA18947,NA18948,NA18959,NA18964,NA18980,NA18983,NA18985,NA18999,NA19004,NA19005,NA19007,NA19054,NA19055,NA19060,NA19063,NA19065,NA19066,NA19070,NA19074,NA19083,NA19087,NA19093,NA19172,NA19189,NA19256,NA19373,NA19393,NA19404,NA19445,NA19453,NA19648,NA19654,NA19655,NA19679,NA19726,NA19728,NA19731,NA19747,NA19750,NA19758,NA19774,NA19776,NA19777,NA19780,NA19782,NA19785,NA19835,NA20127,NA20291,NA20296,NA20299,NA20314,NA20344,NA20505,NA20506,NA20509,NA20512,NA20517,NA20518,NA20527,NA20528,NA20529,NA20530,NA20533,NA20534,NA20538,NA20541,NA20543,NA20752,NA20755,NA20758,NA20759,NA20760,NA20761,NA20766,NA20769,NA20770,NA20771,NA20772,NA20787,NA20792,NA20796,NA20804,NA20808,NA20810,NA20811,NA20813,NA20814,NA20818,NA20828 esv1006289 1 16376517 16376517 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 16376518 16376518 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873209 S 2 1 0 CLCNKB HuRef esv2744386 1 16376737 16386222 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6941783,essv6946498,essv6921722,essv6937680,essv6877666,essv6906101,essv6776937,essv6692764,essv6696989 M 96 0 9 CLCNKB,FAM131C SSM014,SSM018,SSM022,SSM023,SSM024,SSM037,SSM038,SSM067,SSM093 nsv870466 1 16376953 16406162 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 16396806 16505908 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 16421223 16421223 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733226 S 2 1 0 "" HuRef esv2674944 1 16429702 16435186 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5749349,essv5809448,essv5566499,essv5977599,essv6082751,essv5968961,essv6338934,essv5735031,essv5620580,essv5630758,essv6207393,essv6055609,essv6200466,essv5849998 M 1151 0 14 "" HG01083,HG01390,NA19235,NA19248,NA19347,NA19390,NA19394,NA19397,NA19403,NA19431,NA19434,NA19440,NA19455,NA19462 nsv833869 1 16436753 16605129 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443029 S 95 0 1 ARHGEF19,EPHA2,FBXO42,RSG1 nsv871825 1 16442908 16530049 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 16455143 16582686 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 16466003 16530716 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547711 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF19,EPHA2 HGDP00697 esv1258099 1 16490555 16490555 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037753 S 2 1 0 "" HuRef esv2744397 1 16492409 16492917 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6748387,essv6675202 M 96 0 2 "" SSM008,SSM032 esv1271324 1 16492647 16492707 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655096 S 2 0 1 "" HuRef dgv2e180 1 16492664 16492735 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993479,esv993773 M 3 0 1 "" HuRef nsv3520 1 16547808 16582246 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2762 S 9 1 0 FBXO42,RSG1 NA18555 esv1036042 1 16637582 16637582 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767129 S 2 1 0 FBXO42 HuRef esv2618916 1 16639768 16639820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350545 S 1 0 1 FBXO42 NA18507 esv2667137 1 16649712 16657375 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6419344 S 1151 0 1 FBXO42 HG00732 nsv511679 1 16686601 16690950 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626317 S 1 0 1 "" 1 nsv829581 1 16748650 16755035 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421445 S 31 0 1 SPATA21 NA18997 esv2675247 1 16749495 16756842 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5923478,essv5998659,essv5844196,essv6234125,essv5934337,essv6408124,essv5861121 M 1151 0 7 SPATA21 HG00448,HG00501,HG00512,HG00524,HG00626,HG00629,HG00663 esv1035588 1 16750713 16750713 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853896 S 2 1 0 SPATA21 HuRef esv2674598 1 16751156 16755118 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5945549,essv6031717,essv6498947,essv6114958,essv5767891,essv6334699,essv6096210,essv5702426,essv5447426,essv6007559,essv6414142,essv6459305,essv5496584,essv5794132 M 1151 0 14 SPATA21 HG00448,HG00501,HG00512,HG00524,HG00663,NA18548,NA18557,NA18561,NA18574,NA18576,NA18596,NA18633,NA19003,NA19087 dgv19n67 1 16751159 16755035 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829603,nsv829592 M 31 0 3 SPATA21 AK14,AK6,NA18969 esv2744408 1 16751192 16755106 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874707,essv6744935,essv6871715,essv6764164,essv6718909 M 96 0 5 SPATA21 SSM007,SSM055,SSM063,SSM091,SSM092 dgv28e1 1 16764333 17125658 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 16764333 17483981 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 16764333 17483981 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 16765771 16936692 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833980,nsv834092 M 95 0 8 CROCCP3,MIR3675,NBPF1,NECAP2 nsv9213 1 16777017 16779533 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13424,nssv12118,nssv15103 M 31 0 3 Samples from several populations that are part of the HapMap project. NECAP2 NA18504,NA18517,NA19144 nsv9324 1 16797147 17281224 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray 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 16798795 17183115 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 16806094 16950241 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465509 S 2 1 0 Samples from several populations that are part of the HapMap project. CROCCP2,CROCCP3,MIR3675,NBPF1 NA18505 esv2750816 1 16808694 17029714 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981188,essv6985510 M 771 1 0 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,NBPF1 BEC_362 dgv30e1 1 16808694 17342768 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array 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 esv2677321 1 16809863 16811594 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5878129,essv6427061,essv6398890,essv5535525,essv5994676,essv5886295,essv6193516,essv5749056,essv5766029,essv6512322,essv6211001,essv5558209,essv5965649,essv5789982,essv6591590,essv5880396,essv5588104,essv5589069,essv5594740,essv5725325,essv5742037,essv5607387,essv5665727,essv6008582,essv5622317,essv5814400,essv6531900,essv6341487,essv6507242,essv5643548,essv6153540,essv5650036,essv6227728,essv5651548,essv5839539,essv5781062,essv6315322,essv6081357,essv6513444,essv5792515,essv5715096,essv5968737,essv6176931,essv6006605,essv6159131,essv6040129,essv6240662,essv5406731,essv6361728,essv5422968,essv5847629,essv5424664,essv6413235,essv6162882,essv6320568,essv6466185,essv5441457,essv6108738,essv6091706,essv6432913,essv5867128,essv6326321,essv5770402,essv5866644,essv6103297,essv5873459,essv5679780,essv5764841,essv6543948,essv5685352,essv5684720,essv6236486,essv5925942,essv6384264,essv5939358,essv5929046,essv5980873,essv5772336,essv5810140,essv6025226,essv5677064,essv6097680,essv6223308 M 1151 0 83 CROCCP3 HG00641,HG01111,HG01390,HG01551,NA07346,NA11994,NA12763,NA12892,NA18486,NA18504,NA18510,NA18516,NA18517,NA18519,NA18520,NA18858,NA18868,NA18871,NA18912,NA18917,NA18924,NA18953,NA18976,NA18981,NA19098,NA19102,NA19107,NA19108,NA19116,NA19129,NA19131,NA19147,NA19152,NA19171,NA19172,NA19198,NA19235,NA19238,NA19239,NA19240,NA19313,NA19318,NA19321,NA19327,NA19331,NA19332,NA19334,NA19338,NA19346,NA19347,NA19350,NA19359,NA19372,NA19375,NA19377,NA19381,NA19382,NA19384,NA19385,NA19394,NA19395,NA19396,NA19397,NA19399,NA19428,NA19429,NA19431,NA19446,NA19461,NA19462,NA19466,NA19467,NA19469,NA19625,NA19835,NA19900,NA19909,NA19914,NA19916,NA20126,NA20281,NA20341,NA20342 nsv159668 1 16809866 16811596 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178246 M 24 CROCCP3 dgv20e201 1 16810061 17003614 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2744419,esv2744452 M 96 0 21 CROCCP2,CROCCP3,MIR3675,MST1P2,NBPF1 SSM001,SSM005,SSM009,SSM017,SSM019,SSM023,SSM025,SSM033,SSM034,SSM038,SSM043,SSM047,SSM055,SSM056,SSM057,SSM066,SSM068,SSM077,SSM078,SSM084,SSM095 esv2678817 1 16814591 16963259 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6308194 S 1151 0 1 CROCCP2,CROCCP3,MIR3675,NBPF1 NA18528 esv33046 1 16821558 17012524 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101566,essv101021,essv98327,essv94690,essv97938,essv95236,essv97341,essv101730,essv95920,essv96456,essv96254 M 51 0 11 CROCCP2,MIR3675,MST1P2,NBPF1 21603,21693,21772,21791,21837,21872,21879,21909,21911,22261,22371 essv25036 1 16827791 16945358 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CROCCP2,MIR3675,NBPF1 NA12801 dgv20n67 1 16831880 17106501 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 16831880 17106501 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420247 S 1 1 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA10851 nsv829625 1 16831880 17281753 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH 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 esv2744430 1 16832027 16849751 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6747780,essv6744936,essv6917430,essv6813170,essv6816585,essv6729619,essv6714246 M 96 0 7 "" SSM017,SSM043,SSM047,SSM055,SSM056,SSM077,SSM078 esv29642 1 16833086 17125629 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20185,esv17891,esv13221,esv20857,esv20432,esv12183,esv16441,esv17374,esv12048,esv17903,esv15698,esv11265,esv18819,esv19804,esv18078,esv10634 M 451 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 dgv21e199 1 16833341 17001601 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2667669,esv2667810,esv2668944,esv2669650,esv2666304 M 1151 0 24 CROCCP2,MIR3675,MST1P2,NBPF1 HG00123,HG00183,HG00236,HG00336,HG00344,HG00418,HG00427,HG00512,HG00608,HG00640,HG00651,HG00662,HG00698,HG00708,HG01082,HG01350,HG01488,NA18535,NA18574,NA18599,NA18636,NA19439,NA19463,NA19712 esv2744441 1 16834539 16836427 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6747780,essv6744936,essv6917430,essv6816585,essv6729619,essv6714246 M 96 0 6 "" SSM017,SSM043,SSM047,SSM055,SSM056,SSM078 esv2670550 1 16834562 16836315 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5971178,essv5731108,essv5893831,essv5761106,essv6003545,essv5818513,essv5787027,essv5910548,essv5723249,essv6518200,essv5614581,essv6297798,essv5639312,essv6457853,essv5673967,essv5648712,essv6166189,essv6284702,essv5655327,essv5721291,essv6121551,essv5662725,essv5681151,essv6159093,essv6100767,essv5878340,essv5884907,essv5720451,essv5820642,essv6027230,essv6239663,essv5769310,essv5975796,essv5875749,essv5400511,essv5411638,essv6434867,essv6388576,essv5853498,essv6316303,essv6378939,essv5441244,essv6476208,essv6210974,essv5473218,essv5473340,essv5983898,essv5914502,essv5489675,essv5667448,essv5816415 M 1151 0 51 "" HG01048,HG01098,HG01112,HG01251,HG01253,HG01254,HG01456,HG01494,HG01495,HG01521,HG01522,HG01550,NA06989,NA18553,NA18562,NA18965,NA19003,NA19172,NA19223,NA19315,NA19729,NA19732,NA19746,NA19747,NA19750,NA19758,NA19762,NA19773,NA19774,NA19780,NA19783,NA19785,NA19788,NA19985,NA20282,NA20287,NA20289,NA20291,NA20296,NA20322,NA20332,NA20334,NA20336,NA20340,NA20342,NA20346,NA20356,NA20530,NA20582,NA20757,NA20796 dgv31e1 1 16857227 17055906 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 16857227 17125658 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 16864087 16969095 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9844,essv19066 M 271 0 0 CROCCP2,MIR3675,NBPF1 NA11830,NA19144 nsv834203 1 16866144 16910121 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443251,nssv1443218,nssv1443129,nssv1443140,nssv1443151,nssv1443162,nssv1443196,nssv1443229,nssv1443185,nssv1443207,nssv1443173,nssv1443240 M 95 0 12 MIR3675,NBPF1 essv17368 1 16871316 16931006 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR3675,NBPF1 NA18517 nsv499577 1 16879365 17006969 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585483 S 9 0 0 CROCCP2,MST1P2,NBPF1 nsv7173 1 16885574 17264314 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 16885846 16920424 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 16886563 16997171 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 16888296 16891688 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv221 S 1 1 0 NBPF1 NA15510 nsv471343 1 16890412 16918689 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548026,nssv548025,nssv548027 M 3 NBPF1 nsv471344 1 16890412 16939982 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548029,nssv548028,nssv548030 M 3 NBPF1 nsv482190 1 16890412 16939982 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558551 S 1 1 0 NBPF1 KB1 nsv514916 1 16891448 16893975 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628444 S 1414 0 0 NBPF1 nsv435932 1 16892389 16892507 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465620 S 2 1 0 NBPF1 NA15510 nsv159149 1 16892493 16894030 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177727 M 24 NBPF1 nsv436039 1 16892689 16892745 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465731 S 2 1 0 NBPF1 NA15510 esv34697 1 16895276 17045646 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979544,essv6986884,essv6990378 M 771 1 0 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 NA18570 nsv3743 1 16899499 16945621 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 16908693 16915645 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436307,nsv435920 M 2 0 2 NBPF1 NA15510,NA18505 nsv160674 1 16910755 16917058 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179252 M 24 NBPF1 esv2744463 1 16919364 16919501 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6941785 S 96 0 1 NBPF1 SSM023 dgv34e1 1 16920271 17299983 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 16922530 16968438 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337771 S 1 1 0 CROCCP2,NBPF1 NA18507 dgv35e1 1 16922816 16969095 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19889,essv6793 M 271 0 0 CROCCP2,NBPF1 NA11881,NA18594 dgv36e1 1 16922816 17055906 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array 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 16923240 17010093 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 16923241 17010093 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 16923248 16931006 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NBPF1 NA18856 nsv3854 1 16945141 16964571 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3870 S 9 1 0 CROCCP2 NA12878 esv29948 1 16948127 17257997 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84187 S 3 0 1 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9 WATSON dgv21n67 1 16953076 17106501 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821721,nsv821732 M 31 2 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9 AK14,NA18547 dgv37e1 1 16959462 17055906 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array 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 16959462 17216331 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 16974452 17083243 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465873 S 2 0 0 Samples from several populations that are part of the HapMap project. ESPNP,MIR3675,MST1P2,MST1P9 NA18505 nsv160333 1 17000927 17001237 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178911 M 24 "" dgv178n71 1 17004850 17282425 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 17006264 17052445 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29331 S 1 0 0 ESPNP,MIR3675 SJK dgv39e1 1 17007592 17125658 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array 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 nsv482949 1 17007592 17125658 CNV Loss Iafrate et al 2004 15286789 BAC_aCGH,FISH Spectral Genomics 2600 BAC array nssv650813 M 0 0 5 Seven samples from cytogenetically abnormal individuals were obtained from the Brigham and Women's Cytogenetics Laboratory and 9 DNA samples, from individuals with defined karyotypic abnormalities, were obtained from whole blood samples from the Hospital for Sick Children. ESPNP,MIR3675,MST1P9 dgv40e1 1 17007592 17483981 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1499,essv9388 M 271 0 0 ATP13A2,CROCC,ESPNP,MFAP2,MIR3675,MST1P9,PADI2,SDHB NA18853,NA18980 esv2674537 1 17009418 17012813 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5884380,essv5516049,essv5517821,essv6299710,essv6108655,essv6274472,essv5521243,essv5947507,essv5522283,essv5522462,essv5522561,essv5523214,essv6141516,essv5918449,essv6388186,essv5877453,essv6512267,essv6234519,essv5528906,essv5532131,essv5840176,essv5534470,essv5758571,essv6201640,essv6365495,essv6507086,essv5538981,essv6062781,essv6150918,essv5781535,essv6160069,essv5733827,essv6115776,essv6495857,essv5756652,essv5954510,essv5549484,essv5904226,essv6205151,essv5552506,essv6550941,essv6324849,essv5555842,essv6086610,essv6352989,essv5556477,essv6166124,essv5983421,essv5558838,essv6402765,essv5560331,essv6102391,essv5560573,essv5561677,essv6101431,essv5561998,essv6124785,essv6191528,essv5562392,essv6489093,essv6105650,essv5954562,essv6396356,essv6390229,essv6440341,essv5564714,essv5732019,essv6566709,essv5728797,essv5993506,essv6030963,essv5832273,essv5989234,essv5572978,essv6288994,essv5574566,essv6572481,essv5576365,essv6496807,essv6126012,essv6124790,essv6537976,essv6063346,essv6014448,essv6311407,essv5582484,essv5583622,essv6345568,essv5585612,essv6395527,essv6414302,essv5588391,essv5588510,essv6149614,essv6376515,essv6210017,essv6536498,essv5592325,essv5594173,essv6242796,essv6047851,essv6295321,essv6081699,essv5731821,essv5597696,essv6330896,essv6015473,essv5599948,essv6491394,essv6486409,essv5601865,essv5955295,essv5989070,essv6283948,essv5607051,essv6101895,essv5918699,essv5917653,essv6399607,essv5609401,essv5610089,essv5676145,essv6066164,essv6484828,essv6572041,essv6359213,essv5760255,essv5778439,essv6473934,essv5836953,essv5620721,essv6380767,essv5622486,essv5622750,essv5979046,essv5926444,essv5813447,essv6116391,essv6527131,essv6527654,essv6558915,essv5625489,essv6555681,essv6507612,essv6191418,essv5628187,essv5628205,essv5716666,essv5928206,essv6064611,essv5630441,essv5631480,essv6053434,essv5844835,essv5632946,essv6371104,essv5634621,essv5635005,essv6133368,essv6479874,essv5731191,essv6223777,essv6104247,essv5915995,essv6441722,essv6238610,essv6310418,essv5750689,essv5932491,essv6575467,essv5876352,essv5646594,essv6144310,essv6364471,essv6406803,essv5649126,essv6012796,essv5650129,essv5748260,essv5971609,essv5652076,essv6228205,essv5653579,essv5654096,essv5905293,essv5654884,essv6329788,essv6050842,essv5833583,essv5656954,essv5657457,essv5658429,essv5659724,essv5659971,essv5964161,essv5660879,essv6071185,essv5995111,essv5663758,essv5790074,essv6254840,essv5879466,essv6320877,essv6261378,essv5944489,essv5884764,essv5898712,essv5942351,essv6221667,essv6340787,essv6253547,essv6311618,essv6308847,essv5898730,essv6371146,essv6220286,essv6440875,essv5886787,essv6433338,essv6070586,essv5784932,essv5837910,essv5805458,essv6337993,essv5678619,essv5803514,essv6042231,essv6462609,essv5778837,essv6446581,essv6477249,essv6566168,essv5845466,essv5795831,essv6066246,essv6449652,essv5982866,essv6500898,essv5791045,essv6237236,essv6404006,essv5807086,essv5711181,essv6130914,essv5843228,essv6168578,essv5781026,essv5717818,essv6427868,essv6434898,essv5822947,essv6316163,essv5707975,essv5938676,essv6117340,essv5729629,essv5904906,essv6269989,essv5711800,essv6383399,essv6093404,essv6144931,essv5746062,essv6283849,essv6437116,essv6339803,essv5932138,essv5917545,essv5952662,essv6138458,essv6422104,essv6539990,essv6056561,essv5818143,essv5779105,essv6499684,essv5751052,essv5766417,essv5967522,essv6369264,essv6014024,essv6519161,essv5767854,essv6252762,essv5701300,essv6006624,essv6144789,essv6531615,essv5790768,essv6110361,essv6466750,essv5983061,essv6553008,essv6390884,essv6380924,essv6259973,essv5705556,essv6035337,essv5792204,essv6165269,essv6336596,essv5666021,essv5840562,essv5779459,essv6491624,essv5397199,essv6340517,essv5796095,essv6419175,essv5400807,essv6550107,essv5780669,essv5403479,essv5405281,essv5752513,essv5405827,essv6157868,essv6329980,essv5408617,essv5408916,essv5744923,essv5410219,essv5778640,essv6532473,essv5411743,essv6053629,essv5413153,essv5767579,essv5750528,essv6577141,essv6173453,essv5848784,essv6194133,essv5416951,essv6456558,essv6173602,essv5419906,essv5420981,essv5422535,essv6366610,essv6573379,essv5422751,essv6359790,essv6506941,essv5852693,essv5687737,essv5426405,essv5854394,essv6576532,essv5687503,essv5428585,essv5429936,essv5687935,essv5690211,essv5430661,essv6577146,essv6114980,essv6548398,essv6407203,essv6590349,essv5434400,essv6506388,essv5434623,essv5694190,essv6053811,essv5439126,essv5439273,essv6197425,essv6182977,essv6075554,essv5440218,essv6197697,essv6596903,essv5441624,essv5861246,essv6219251,essv5443825,essv5446401,essv6184657,essv6278840,essv6508340,essv6564093,essv5862501,essv5448518,essv6291015,essv6589499,essv5450442,essv5450449,essv5867626,essv6372009,essv6206569,essv6209760,essv5683343,essv5454886,essv6100410,essv5456761,essv5712371,essv6244985,essv5871089,essv5458126,essv5459096,essv6535766,essv5460549,essv6050303,essv6284859,essv6389888,essv5772379,essv6073221,essv6162076,essv6135236,essv5873264,essv6062015,essv5873719,essv5466394,essv5869444,essv5468546,essv5468763,essv5470150,essv6064394,essv6000398,essv5471763,essv6094907,essv6344873,essv5684371,essv6384766,essv6289912,essv6164861,essv5475962,essv6511693,essv6437266,essv6506860,essv6384902,essv6167973,essv5480709,essv5686905,essv6143457,essv6474992,essv5995615,essv6304222,essv5486827,essv6156415,essv6072451,essv5745858,essv6204127,essv6305573,essv6014530,essv6095136,essv6170895,essv5492919,essv6369470,essv6253114,essv5675983,essv5740680,essv6152453,essv6326395,essv5496330,essv6560980,essv6386175,essv5497490,essv5876909,essv5498434,essv5499026,essv6158310,essv5759449,essv6530707,essv5501014,essv5501495,essv5502907,essv5502985,essv6538910,essv6242545,essv5765729,essv6203409,essv6451403,essv5842985,essv5834651,essv6544021,essv6360784,essv6307717,essv6535199,essv5512960,essv6340804,essv5912082 M 1151 0 483 "" HG00096,HG00100,HG00106,HG00111,HG00112,HG00115,HG00116,HG00118,HG00119,HG00120,HG00122,HG00123,HG00124,HG00125,HG00126,HG00127,HG00131,HG00133,HG00136,HG00137,HG00138,HG00141,HG00142,HG00143,HG00146,HG00147,HG00148,HG00149,HG00150,HG00152,HG00153,HG00155,HG00156,HG00157,HG00160,HG00171,HG00173,HG00174,HG00178,HG00179,HG00180,HG00181,HG00185,HG00186,HG00187,HG00188,HG00231,HG00233,HG00236,HG00237,HG00239,HG00242,HG00243,HG00244,HG00245,HG00247,HG00250,HG00251,HG00252,HG00254,HG00258,HG00259,HG00262,HG00265,HG00266,HG00267,HG00269,HG00271,HG00274,HG00275,HG00276,HG00277,HG00280,HG00281,HG00284,HG00306,HG00308,HG00310,HG00315,HG00318,HG00319,HG00320,HG00323,HG00324,HG00325,HG00327,HG00330,HG00331,HG00335,HG00336,HG00338,HG00345,HG00346,HG00359,HG00361,HG00362,HG00366,HG00367,HG00372,HG00373,HG00375,HG00377,HG00380,HG00403,HG00404,HG00418,HG00421,HG00427,HG00428,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00476,HG00478,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00536,HG00537,HG00551,HG00553,HG00556,HG00557,HG00559,HG00560,HG00565,HG00566,HG00577,HG00578,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00593,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00625,HG00626,HG00628,HG00629,HG00635,HG00637,HG00638,HG00651,HG00653,HG00654,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00690,HG00693,HG00698,HG00699,HG00704,HG00707,HG00708,HG00731,HG00734,HG00736,HG00739,HG00740,HG01047,HG01048,HG01060,HG01061,HG01066,HG01067,HG01069,HG01072,HG01073,HG01075,HG01079,HG01083,HG01094,HG01097,HG01101,HG01102,HG01107,HG01110,HG01112,HG01113,HG01124,HG01125,HG01133,HG01136,HG01137,HG01140,HG01148,HG01149,HG01170,HG01171,HG01174,HG01183,HG01187,HG01188,HG01191,HG01197,HG01198,HG01204,HG01254,HG01334,HG01342,HG01351,HG01353,HG01354,HG01356,HG01360,HG01365,HG01366,HG01374,HG01375,HG01377,HG01378,HG01389,HG01390,HG01437,HG01440,HG01441,HG01456,HG01461,HG01465,HG01488,HG01489,HG01492,HG01494,HG01495,HG01498,HG01516,HG01518,HG01519,HG01521,HG01550,HG01551,NA06986,NA06989,NA07048,NA07051,NA07347,NA11843,NA11892,NA11893,NA11920,NA11930,NA11932,NA11994,NA12046,NA12058,NA12154,NA12155,NA12272,NA12273,NA12275,NA12286,NA12341,NA12342,NA12383,NA12399,NA12400,NA12718,NA12763,NA12777,NA18488,NA18516,NA18530,NA18532,NA18533,NA18534,NA18535,NA18538,NA18539,NA18541,NA18543,NA18547,NA18553,NA18559,NA18560,NA18565,NA18566,NA18567,NA18574,NA18602,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18626,NA18627,NA18628,NA18630,NA18631,NA18634,NA18853,NA18867,NA18868,NA18940,NA18948,NA18950,NA18956,NA18959,NA18960,NA18961,NA18963,NA18964,NA18977,NA18983,NA18985,NA18986,NA18987,NA18988,NA18989,NA18990,NA18991,NA18999,NA19002,NA19003,NA19004,NA19007,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088,NA19198,NA19311,NA19312,NA19317,NA19318,NA19324,NA19328,NA19331,NA19332,NA19334,NA19346,NA19359,NA19360,NA19381,NA19382,NA19385,NA19390,NA19395,NA19398,NA19401,NA19429,NA19436,NA19438,NA19440,NA19443,NA19445,NA19446,NA19448,NA19452,NA19453,NA19463,NA19467,NA19469,NA19470,NA19472,NA19625,NA19651,NA19652,NA19655,NA19657,NA19658,NA19660,NA19661,NA19663,NA19664,NA19670,NA19675,NA19676,NA19678,NA19679,NA19682,NA19704,NA19707,NA19717,NA19719,NA19720,NA19722,NA19723,NA19725,NA19726,NA19731,NA19732,NA19746,NA19749,NA19755,NA19756,NA19758,NA19762,NA19773,NA19776,NA19777,NA19782,NA19783,NA19785,NA19786,NA19788,NA19818,NA19835,NA19904,NA19908,NA19920,NA19921,NA20276,NA20289,NA20296,NA20299,NA20344,NA20346,NA20502,NA20503,NA20512,NA20528,NA20529,NA20582,NA20586,NA20752,NA20754,NA20771,NA20774,NA20775,NA20790,NA20797,NA20806,NA20812,NA20818 esv2744475 1 17009495 17012813 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874710,essv6710583,essv6784632,essv6916695,essv6793286,essv6744937,essv6910046,essv6972345,essv6750603,essv6722006,essv6832597,essv6876843,essv6801617,essv6950240,essv6789149,essv6816586,essv6764166,essv6871716,essv6692766,essv6729622,essv6929059,essv6801487,essv6859193 M 96 0 23 "" SSM002,SSM003,SSM004,SSM009,SSM012,SSM015,SSM020,SSM029,SSM037,SSM042,SSM045,SSM047,SSM055,SSM057,SSM063,SSM070,SSM071,SSM073,SSM078,SSM082,SSM088,SSM091,SSM092 dgv2n6 1 17009557 17012761 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv159352,nsv159492 M 24 "" nsv438303 1 17011655 17024300 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 17012120 17279975 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101508,essv97457,essv101115,essv93832,essv101061,essv95128,essv98340,essv98164,essv94416,essv96937,essv97929,essv95690,essv95548,essv93056,essv95397,essv97342,essv97317,essv101652,essv101691,essv95885,essv95797,essv94631,essv94591,essv99013,essv92701,essv96578,essv97172,essv93586,essv93568,essv93286,essv94915,essv92596,essv96504,essv99198,essv97738,essv100280,essv100508,essv100427,essv96287 M 51 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 17012740 17050802 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366950 S 1 1 0 ESPNP NA18507 nsv821743 1 17013588 17106501 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437930 S 31 1 0 ESPNP,MST1P9 NA18951 nsv437204 1 17014694 17024300 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467085 S 60 0 1 Samples from several populations that are part of the HapMap project. ESPNP NA18506 nsv821754 1 17015261 17032864 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426377 S 31 1 0 ESPNP AK6 nsv821765 1 17015261 17053911 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440804 S 31 1 0 ESPNP NA18969 nsv819277 1 17018421 17053941 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array 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 17019120 17036231 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467086 S 60 0 1 Samples from several populations that are part of the HapMap project. ESPNP NA19139 dgv41e1 1 17023403 17271137 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 17024300 17083261 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467087 S 60 0 1 Samples from several populations that are part of the HapMap project. ESPNP,MST1P9 NA18863 essv15944 1 17025105 17055906 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ESPNP NA18515 esv2658050 1 17031841 17032423 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6258973,essv5927601,essv6257129,essv5527619,essv5952061,essv5875088,essv5826742,essv5428228 M 1151 0 8 ESPNP NA18856,NA19138,NA19317,NA19332,NA19446,NA19452,NA19467,NA19681 nsv511141 1 17035193 17046456 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 17035600 17055906 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ESPNP NA12234 esv2440890 1 17050802 17054181 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191715 S 1 1 0 "" NA18507 dgv22n67 1 17050837 17106654 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821776,nsv821787,nsv821798,nsv821810 M 31 4 0 MST1P9 AK16,AK18,AK2,AK4 esv2744486 1 17052228 17186826 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6829000,essv6847018,essv6692767 M 96 0 3 MIR3675,MST1P9 SSM037,SSM081,SSM086 nsv3965 1 17052511 17085042 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5340,nssv3893 M 9 2 0 MST1P9 NA12878,NA19129 esv2744497 1 17054301 17054683 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6829000,essv6692767 M 96 0 2 "" SSM037,SSM081 esv2744508 1 17054436 17054588 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6692767 S 96 0 1 "" SSM037 dgv22e199 1 17069933 17232790 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2674439,esv2659361 M 1151 0 10 MIR3675,MST1P9 HG00124,HG00174,HG00339,HG00554,HG00734,HG01073,HG01124,HG01140,HG01365,NA19057 nsv498664 1 17071423 17073212 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585404 S 9 0 1 "" esv26111 1 17175722 17281753 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11182,esv20155,esv11657,esv15416,esv15181,esv20295,esv18904,esv16106 M 451 16 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 17175722 17281753 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420258 S 1 1 0 CROCC,MIR3675 NA10851 nsv834258 1 17177359 17280949 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443395,nssv1443407,nssv1443418 M 95 0 3 CROCC,MIR3675 nsv834269 1 17181778 17365026 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 17190862 17262247 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 17195155 17262247 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CROCC dgv180n71 1 17202892 17275817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870547,nsv870479 M 6533 0 3 CROCC SP51025,SP52946,SP57243 dgv23n67 1 17207577 17272607 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821832,nsv821821 M 31 2 0 CROCC NA18547,NA18592 nsv433184 1 17208451 17263377 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463065 S 9 0 1 Samples from several populations that are part of the HapMap project. CROCC NA12156 dgv181n71 1 17208451 17275817 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 17208451 17281003 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 17209332 17252167 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84227 S 2 0 1 CROCC HuRef esv2421455 1 17209603 17267496 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip 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 17214713 17449501 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 17217069 17271137 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CROCC NA12144 nsv437207 1 17217265 17257302 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467088 S 60 0 1 Samples from several populations that are part of the HapMap project. CROCC NA19208 dgv24n67 1 17222692 17272635 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821843,nsv821876,nsv821887 M 31 3 0 CROCC NA18552,NA18566,NA18947 dgv183n71 1 17225264 17281003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871431,nsv871343 M 6533 0 2 CROCC SP53583,SP57410 dgv25n67 1 17229814 17261298 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821865,nsv821854,nsv821898 M 31 3 0 CROCC AK2,NA18537,NA18972 nsv508947 1 17236312 17337610 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 17239973 17340878 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871043,nsv871503 M 6533 0 2 ATP13A2,CROCC,MFAP2 IS37646,MS17208 nsv482201 1 17248445 17299474 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558562 S 1 1 0 CROCC KB1 nsv437208 1 17248885 17268329 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467089 S 60 0 1 Samples from several populations that are part of the HapMap project. CROCC NA19240 nsv438355 1 17253828 17265366 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 17254695 17281238 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548289,nssv548311,nssv548300 M 3 CROCC dgv185n71 1 17267496 17344279 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 17275817 17309540 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510642 S 6533 0 1 CROCC,MFAP2 SP54988 esv2662800 1 17361001 17363337 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6493736,essv5515375,essv6458674,essv5534174,essv6032694 M 1151 0 5 SDHB HG00151,HG01066,HG01174,HG01488,NA19723 esv2422314 1 17407393 17543122 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161240 S 181 1 0 PADI1,PADI2 ND01703 nsv460662 1 17412501 17485551 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537201 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PADI2 HGDP00896 esv269737 1 17441096 17441331 CNV Insertion 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 17441105 17441388 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 17452922 17484499 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161296 S 181 1 0 "" ND03833 esv2627134 1 17492270 17493050 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378317 S 1 1 0 "" NA18507 nsv512720 1 17492683 17493571 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625345 S 1 1 0 "" 1 esv1174577 1 17492714 17492714 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070341 S 2 1 0 "" HuRef nsv834291 1 17530817 17676712 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 esv2744530 1 17534765 17535270 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 4 PADI1 SSM027,SSM064,SSM077,SSM085 esv1489199 1 17535092 17535092 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883314 S 2 1 0 PADI1 HuRef esv2744541 1 17535108 17535228 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 PADI1 SSM085 nsv871364 1 17545548 17569949 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 17551943 17594592 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547713 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PADI1,PADI3 HGDP00298 nsv511680 1 17566573 17569081 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626318 S 1 0 1 PADI1 1 esv1009642 1 17567948 17568235 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 esv2744552 1 17567989 17568310 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 27 PADI1 SSM001,SSM002,SSM005,SSM006,SSM011,SSM015,SSM026,SSM028,SSM034,SSM036,SSM037,SSM038,SSM041,SSM056,SSM058,SSM062,SSM064,SSM071,SSM077,SSM079,SSM084,SSM085,SSM086,SSM091,SSM096,SSM097,SSM100 esv1398963 1 17567997 17568285 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4132855 S 2 0 1 PADI1 HuRef nsv508958 1 17571342 17623132 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623775,nssv619777,nssv621083 M 4 3 0 PADI1,PADI3 NA10860,NA15510,NA18994 nsv521814 1 17586653 17592324 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694586 S 2026 0 1 PADI3 nsv516116 1 17592324 17613809 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669330,nssv668375,nssv691565,nssv654821,nssv666311 M 2026 5 0 PADI3 nsv4076 1 17609733 17621412 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv955 S 9 1 0 PADI3 NA19240 esv1667289 1 17615796 17615796 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808815 S 2 1 0 "" HuRef esv997286 1 17615802 17619428 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 esv2674909 1 17642027 17642920 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5539586,essv6425476,essv5982492,essv6453312,essv5677106,essv6207285,essv6543344 M 1151 0 7 PADI4 NA18486,NA18867,NA19130,NA19443,NA19469,NA19470,NA19713 nsv511142 1 17674821 17681277 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 17675515 17677114 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101586,essv101249,essv95154,essv95433,essv93123,essv95861,essv92812,essv96134,essv96650,essv95937,essv94943,essv96455,essv100231,essv100601,essv96384 M 51 12 3 PADI4 21603,21618,21721,21847,21863,21911,21944,22007,22011,22127,22231,22261,22286,22298,22371 esv21592 1 17675886 17678930 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15492,esv15841,esv16374 M 451 0 14 PADI4 NA06985,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12489,NA12749,NA12828,NA15510 esv4441 1 17675893 17677762 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26882 S 1 0 1 Single Asian sample YH PADI4 YH esv2744563 1 17675969 17677632 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 36 PADI4 SSM001,SSM002,SSM006,SSM008,SSM009,SSM010,SSM013,SSM017,SSM021,SSM022,SSM023,SSM025,SSM027,SSM029,SSM032,SSM033,SSM044,SSM050,SSM052,SSM053,SSM055,SSM056,SSM059,SSM061,SSM062,SSM063,SSM064,SSM066,SSM070,SSM071,SSM075,SSM079,SSM086,SSM087,SSM090,SSM092 nsv511681 1 17676000 17677698 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626319 S 1 0 1 PADI4 1 dgv23e199 1 17676172 17677665 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2662192,esv2673709 M 1151 0 450 PADI4 HG00096,HG00098,HG00100,HG00106,HG00108,HG00111,HG00114,HG00118,HG00122,HG00123,HG00124,HG00125,HG00126,HG00136,HG00137,HG00138,HG00139,HG00143,HG00144,HG00145,HG00149,HG00150,HG00151,HG00154,HG00155,HG00158,HG00159,HG00160,HG00171,HG00173,HG00176,HG00177,HG00178,HG00181,HG00182,HG00183,HG00185,HG00186,HG00187,HG00188,HG00190,HG00236,HG00237,HG00239,HG00245,HG00246,HG00251,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00262,HG00263,HG00266,HG00268,HG00270,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00285,HG00306,HG00309,HG00315,HG00318,HG00319,HG00321,HG00323,HG00324,HG00326,HG00329,HG00334,HG00335,HG00336,HG00337,HG00339,HG00342,HG00344,HG00345,HG00353,HG00357,HG00366,HG00369,HG00372,HG00375,HG00377,HG00380,HG00403,HG00404,HG00418,HG00421,HG00422,HG00427,HG00428,HG00436,HG00442,HG00448,HG00449,HG00464,HG00475,HG00478,HG00479,HG00500,HG00501,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00543,HG00551,HG00553,HG00554,HG00556,HG00557,HG00559,HG00565,HG00566,HG00577,HG00578,HG00580,HG00581,HG00589,HG00590,HG00592,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00614,HG00619,HG00620,HG00626,HG00628,HG00629,HG00634,HG00635,HG00637,HG00638,HG00641,HG00650,HG00653,HG00654,HG00657,HG00663,HG00671,HG00672,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG00731,HG00732,HG00734,HG00737,HG01048,HG01052,HG01055,HG01060,HG01061,HG01066,HG01069,HG01070,HG01072,HG01075,HG01080,HG01082,HG01083,HG01095,HG01097,HG01101,HG01107,HG01112,HG01133,HG01134,HG01136,HG01137,HG01140,HG01148,HG01149,HG01168,HG01170,HG01173,HG01174,HG01182,HG01188,HG01190,HG01191,HG01198,HG01204,HG01250,HG01251,HG01350,HG01351,HG01354,HG01356,HG01357,HG01359,HG01360,HG01365,HG01374,HG01375,HG01378,HG01384,HG01437,HG01440,HG01441,HG01456,HG01462,HG01488,HG01489,HG01491,HG01494,HG01497,HG01498,HG01515,HG01518,HG01519,HG01521,HG01522,HG01550,NA07000,NA07048,NA07051,NA07056,NA07347,NA10847,NA11843,NA11918,NA11920,NA11931,NA11992,NA11993,NA12003,NA12004,NA12006,NA12155,NA12156,NA12275,NA12283,NA12287,NA12341,NA12347,NA12348,NA12489,NA12717,NA12748,NA12749,NA12750,NA12751,NA12761,NA12763,NA12828,NA18526,NA18532,NA18533,NA18534,NA18535,NA18537,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18557,NA18559,NA18560,NA18561,NA18562,NA18565,NA18566,NA18567,NA18570,NA18571,NA18572,NA18573,NA18574,NA18576,NA18577,NA18579,NA18582,NA18592,NA18595,NA18597,NA18599,NA18602,NA18603,NA18605,NA18609,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18621,NA18622,NA18623,NA18627,NA18630,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18940,NA18941,NA18943,NA18944,NA18945,NA18947,NA18949,NA18950,NA18951,NA18952,NA18956,NA18959,NA18961,NA18963,NA18964,NA18965,NA18967,NA18971,NA18972,NA18973,NA18974,NA18976,NA18977,NA18980,NA18981,NA18982,NA18985,NA18986,NA18987,NA18988,NA18989,NA18990,NA18999,NA19000,NA19002,NA19003,NA19004,NA19005,NA19009,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19066,NA19067,NA19068,NA19070,NA19074,NA19075,NA19076,NA19077,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19360,NA19436,NA19466,NA19652,NA19654,NA19660,NA19663,NA19682,NA19685,NA19712,NA19717,NA19719,NA19722,NA19725,NA19726,NA19728,NA19729,NA19731,NA19750,NA19755,NA19759,NA19770,NA19774,NA19776,NA19777,NA19782,NA19788,NA19982,NA20299,NA20314,NA20344,NA20505,NA20510,NA20516,NA20525,NA20533,NA20540,NA20581,NA20586,NA20761,NA20768,NA20783,NA20798,NA20801,NA20809,NA20816 dgv26n67 1 17676338 17677316 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821921,nsv821909 M 31 0 10 PADI4 AK10,AK18,AK2,AK6,NA18542,NA18547,NA18582,NA18592,NA18947,NA18951 esv2668971 1 17676755 17677069 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6558653,essv6237499,essv6588631,essv5516699,essv6589300,essv5967997,essv6590097,essv5955781,essv6587187,essv5519646,essv6534643,essv6093232,essv6597277,essv5523310,essv6566493,essv6331793,essv6555283,essv6297150,essv6572379,essv6053280,essv6533902,essv5671134,essv6588122,essv5529660,essv6544427,essv5529919,essv6539623,essv6295491,essv6597952,essv5531181,essv6575921,essv5531444,essv6527716,essv6258852,essv6560547,essv5532376,essv6546367,essv6258346,essv6547338,essv6489407,essv6555680,essv6157323,essv6586594,essv6491259,essv6561308,essv5536627,essv6585760,essv5954070,essv6533626,essv6251135,essv6571109,essv5993410,essv6589280,essv5540901,essv6571261,essv5927619,essv6575089,essv5903813,essv6523718,essv5542932,essv6533013,essv6325377,essv6590465,essv5544073,essv5544420,essv5741565,essv6057137,essv5898309,essv6400822,essv5546062,essv5902777,essv5845825,essv5755151,essv6020303,essv5922881,essv5549925,essv6435876,essv6211209,essv5814373,essv5551588,essv5552738,essv5552801,essv6100570,essv6010376,essv5555098,essv5828470,essv5556408,essv5923598,essv5558164,essv5831260,essv5560098,essv5560410,essv5560453,essv5560591,essv6117783,essv6442272,essv5561030,essv6348112,essv6013299,essv5831445,essv5563834,essv5563867,essv6427606,essv5565877,essv5566238,essv6056704,essv6357121,essv6128643,essv5899634,essv6255643,essv6325385,essv6125174,essv5987121,essv5575282,essv5918057,essv6082005,essv6175869,essv5906449,essv5962340,essv6493193,essv6480169,essv6394777,essv5583507,essv5583939,essv5666187,essv6399931,essv5768122,essv6071733,essv5587996,essv6387344,essv6147737,essv5804145,essv5733371,essv5596741,essv6390354,essv5597745,essv6398321,essv6265345,essv5599410,essv5599537,essv6178410,essv6515487,essv6015793,essv5974211,essv6440779,essv6184342,essv5812284,essv5895482,essv5606083,essv5606128,essv6075844,essv5971462,essv6140222,essv6353024,essv5901643,essv6260198,essv6496822,essv6286474,essv6105306,essv6197835,essv6487892,essv5611827,essv5993700,essv5613767,essv5753334,essv6175745,essv5876283,essv5617166,essv6289019,essv5618962,essv5619631,essv5620368,essv6504587,essv6041256,essv6162807,essv6341164,essv5627585,essv6433099,essv6022790,essv6408671,essv6201923,essv6206837,essv5634001,essv6211335,essv6488141,essv6122547,essv5766854,essv5638674,essv5640005,essv5933017,essv5641197,essv6219080,essv5922997,essv6493590,essv5971604,essv6300217,essv6231082,essv6513989,essv6343914,essv6223320,essv6463884,essv6213717,essv5734333,essv5651486,essv5730184,essv5995070,essv5779531,essv5655354,essv5656233,essv6492474,essv6515691,essv5778292,essv5822873,essv5949065,essv5660678,essv5661464,essv5661630,essv5718995,essv5740463,essv6519515,essv6520803,essv6522335,essv5667214,essv6103997,essv6346338,essv6263499,essv6318124,essv6504909,essv6076498,essv5887555,essv6119904,essv5794613,essv5875559,essv5965198,essv6348860,essv6145776,essv5696056,essv6137625,essv6462139,essv6226561,essv5959232,essv6042755,essv6070585,essv5793252,essv6112655,essv5818707,essv6098759,essv5875969,essv6351315,essv5978190,essv5795834,essv5666573,essv5714458,essv6366763,essv5898856,essv5719114,essv6088105,essv5843002,essv6175182,essv6001907,essv5923942,essv6014847,essv5779786,essv5674886,essv6464188,essv6292522,essv6370417,essv5733481,essv5818897,essv6064294,essv5986487,essv6216645,essv6018406,essv5885339,essv5843222,essv6116779,essv5777780,essv6300425,essv5976725,essv6098388,essv6425808,essv6052942,essv5843177,essv5830435,essv6128373,essv6433703,essv5742452,essv5959470,essv6234866,essv5986567,essv5767166,essv5959490,essv6296419,essv5925907,essv5676839,essv5784815,essv5799035,essv5899059,essv6040056,essv6064754,essv5768547,essv6036491,essv6310102,essv6372651,essv5702649,essv6242374,essv6077438,essv5702184,essv6227314,essv5822169,essv5398889,essv5751151,essv5400073,essv6159488,essv6392383,essv5400684,essv5786235,essv5774886,essv5404742,essv5407721,essv6471205,essv5815767,essv6218809,essv6061371,essv5410022,essv5410540,essv5812294,essv6496576,essv6251620,essv6354056,essv5415703,essv6041410,essv5417702,essv6279898,essv5852424,essv6300072,essv5425144,essv6133159,essv5426085,essv5427241,essv5857990,essv5775939,essv5738058,essv6356460,essv5429822,essv5856732,essv5430739,essv6438202,essv6110716,essv5723557,essv6300106,essv6177847,essv5435295,essv5735345,essv5854481,essv5857059,essv5439049,essv5687710,essv6277119,essv5441885,essv5442434,essv5710981,essv6363525,essv5442980,essv6056488,essv6327079,essv6416652,essv6145187,essv5449688,essv5449744,essv5451549,essv5864069,essv5452465,essv6214056,essv5456391,essv5457544,essv6360051,essv5722530,essv6074323,essv6323098,essv6286529,essv5464976,essv5679247,essv5683107,essv5468017,essv5915181,essv6014089,essv5470739,essv6069195,essv5471589,essv5764097,essv6040606,essv6004197,essv5951857,essv5772833,essv5474895,essv5475768,essv6278968,essv5480144,essv6148287,essv6317627,essv6458746,essv5686163,essv5998513,essv6495602,essv6480386,essv6421021,essv6011037,essv5681424,essv6408020,essv5486810,essv6316978,essv5932264,essv6190829,essv5726246,essv6270143,essv6472143,essv5491752,essv5492221,essv5492311,essv6187276,essv6303493,essv5916234,essv5495607,essv6311775,essv6048539,essv5497775,essv5497868,essv5498619,essv6251103,essv5941194,essv6305136,essv5501866,essv5910133,essv5899590,essv5957974,essv5508508,essv5947019,essv5509800,essv6319276,essv6327150,essv5936368,essv6384800 M 1151 0 443 PADI4 HG00100,HG00106,HG00108,HG00111,HG00114,HG00118,HG00122,HG00123,HG00124,HG00125,HG00126,HG00136,HG00137,HG00138,HG00139,HG00142,HG00143,HG00149,HG00150,HG00151,HG00154,HG00155,HG00158,HG00159,HG00160,HG00171,HG00173,HG00176,HG00177,HG00178,HG00182,HG00183,HG00185,HG00186,HG00187,HG00188,HG00190,HG00236,HG00237,HG00239,HG00245,HG00251,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00261,HG00262,HG00263,HG00268,HG00270,HG00271,HG00272,HG00273,HG00274,HG00276,HG00277,HG00278,HG00280,HG00285,HG00306,HG00309,HG00315,HG00318,HG00319,HG00323,HG00324,HG00326,HG00329,HG00334,HG00335,HG00336,HG00337,HG00339,HG00344,HG00345,HG00353,HG00357,HG00366,HG00369,HG00372,HG00375,HG00377,HG00403,HG00404,HG00418,HG00421,HG00422,HG00427,HG00428,HG00436,HG00442,HG00448,HG00449,HG00464,HG00475,HG00478,HG00479,HG00500,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00543,HG00553,HG00554,HG00556,HG00557,HG00559,HG00565,HG00566,HG00577,HG00578,HG00580,HG00581,HG00584,HG00589,HG00590,HG00592,HG00595,HG00596,HG00607,HG00608,HG00611,HG00620,HG00628,HG00629,HG00634,HG00635,HG00637,HG00638,HG00641,HG00650,HG00653,HG00654,HG00657,HG00663,HG00671,HG00672,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG00731,HG00732,HG00734,HG00737,HG01048,HG01052,HG01055,HG01060,HG01061,HG01066,HG01067,HG01069,HG01070,HG01072,HG01075,HG01080,HG01082,HG01083,HG01095,HG01101,HG01107,HG01133,HG01134,HG01136,HG01137,HG01140,HG01148,HG01149,HG01170,HG01174,HG01190,HG01191,HG01198,HG01204,HG01250,HG01350,HG01351,HG01354,HG01356,HG01357,HG01359,HG01365,HG01374,HG01375,HG01378,HG01384,HG01437,HG01440,HG01441,HG01462,HG01488,HG01489,HG01491,HG01492,HG01494,HG01497,HG01515,HG01518,HG01519,HG01521,HG01522,NA07000,NA07048,NA07051,NA07056,NA07347,NA11918,NA11920,NA11931,NA11933,NA12003,NA12155,NA12275,NA12283,NA12286,NA12341,NA12347,NA12348,NA12383,NA12718,NA12748,NA12749,NA12751,NA12763,NA12777,NA12827,NA12889,NA18534,NA18535,NA18536,NA18538,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18557,NA18559,NA18560,NA18561,NA18562,NA18564,NA18565,NA18566,NA18567,NA18570,NA18571,NA18572,NA18573,NA18574,NA18576,NA18577,NA18579,NA18582,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18609,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18619,NA18621,NA18622,NA18623,NA18627,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18940,NA18941,NA18944,NA18945,NA18949,NA18950,NA18951,NA18952,NA18956,NA18959,NA18961,NA18963,NA18964,NA18965,NA18977,NA18980,NA18982,NA18985,NA18986,NA18987,NA18988,NA18989,NA18990,NA18999,NA19000,NA19002,NA19003,NA19004,NA19009,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19066,NA19067,NA19068,NA19070,NA19074,NA19075,NA19076,NA19077,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19360,NA19436,NA19466,NA19467,NA19474,NA19652,NA19654,NA19657,NA19660,NA19663,NA19682,NA19685,NA19712,NA19717,NA19719,NA19720,NA19722,NA19725,NA19726,NA19731,NA19747,NA19755,NA19756,NA19770,NA19771,NA19776,NA19777,NA19782,NA19788,NA19982,NA20314,NA20342,NA20505,NA20506,NA20509,NA20510,NA20512,NA20520,NA20521,NA20524,NA20527,NA20528,NA20529,NA20533,NA20535,NA20537,NA20540,NA20581,NA20582,NA20585,NA20586,NA20588,NA20753,NA20754,NA20755,NA20759,NA20761,NA20765,NA20768,NA20770,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20798,NA20799,NA20800,NA20801,NA20804,NA20806,NA20809,NA20811,NA20812,NA20813,NA20814,NA20816,NA20819,NA20828 esv2744574 1 17678217 17678870 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 13 PADI4 SSM018,SSM026,SSM027,SSM031,SSM032,SSM041,SSM042,SSM057,SSM065,SSM070,SSM071,SSM072,SSM086 esv2744586 1 17684648 17685065 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 28 PADI4 SSM005,SSM006,SSM007,SSM008,SSM012,SSM021,SSM023,SSM030,SSM034,SSM036,SSM041,SSM045,SSM047,SSM056,SSM058,SSM059,SSM062,SSM067,SSM070,SSM071,SSM074,SSM079,SSM085,SSM086,SSM088,SSM089,SSM090,SSM100 esv2590404 1 17704772 17706200 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203286 S 1 0 1 PADI6 NA18507 esv2214804 1 17705422 17706069 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985556 S 1 0 1 PADI6 NA18507 esv2626551 1 17705607 17705918 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305827 S 1 0 1 PADI6 NA18507 esv2744597 1 17731211 17732257 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM064,SSM079 nsv821932 1 17764499 17766919 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426379 S 31 1 0 RCC2 AK6 esv2658880 1 17815616 17819866 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5837730 S 1151 0 1 "" NA19078 nsv4187 1 17829944 17863993 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2861 S 9 1 0 "" NA18555 esv2676950 1 17840390 17844226 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5798081 S 1151 0 1 "" NA18637 nsv834302 1 17857931 18039947 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 17861778 17877078 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 17887963 17903298 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417309 S 112 0 1 ARHGEF10L NA18608 nsv470701 1 17887963 17918600 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547714 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF10L HGDP00825 esv988531 1 17889411 17899949 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 17892816 17918600 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537212 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF10L HGDP00553 nsv870678 1 17895744 17965194 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 17918600 18031533 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 17941666 17962669 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8255 S 9 0 1 ARHGEF10L NA12156 esv2659798 1 17997723 18003855 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6231586,essv6083805,essv6019654 M 1151 0 3 ARHGEF10L HG01055,NA19359,NA20322 nsv518693 1 17998777 18000627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696144 S 2026 0 1 ARHGEF10L esv2744608 1 18009157 18010287 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 ARHGEF10L SSM034,SSM049,SSM089 esv2661094 1 18009607 18009864 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6444158,essv5942546,essv6464162,essv6161024,essv6283282,essv6146675,essv6431843,essv5878829,essv6504484,essv6054663,essv6318610,essv5922399,essv6402872,essv5959897,essv6426380,essv5654483,essv6459527,essv5656296,essv6560865,essv5834010,essv6336514,essv6078925,essv6285990,essv6127850,essv6531610,essv5719322,essv6279593,essv6041365,essv6487250,essv5818974,essv6422733,essv5400854,essv6529968,essv5408908,essv6233303,essv6144540,essv6421116,essv5693568,essv6341178,essv5849927,essv6259537,essv5867182,essv6494099,essv5742045,essv5471448,essv5885133,essv5491675,essv5494918,essv5495308,essv5897210 M 1151 0 50 ARHGEF10L HG00108,HG00111,HG00124,HG00127,HG00237,HG00250,HG00251,HG00275,HG00280,HG00284,HG00285,HG00313,HG00331,HG00334,HG00342,HG00343,HG00344,HG00418,HG00443,HG00479,HG00531,HG00580,HG00656,HG00693,HG00698,HG00699,HG00702,HG00707,HG00708,HG01061,HG01067,HG01073,HG01250,HG01351,HG01365,HG01437,HG01440,HG01441,NA18486,NA18544,NA18548,NA18596,NA18612,NA18633,NA19360,NA19374,NA19398,NA19403,NA19762,NA20291 esv2744619 1 18009643 18009859 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 ARHGEF10L SSM034,SSM089 nsv512721 1 18015300 18015985 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625346 S 1 1 0 ARHGEF10L 1 esv2668483 1 18061683 18063084 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6007743,essv6230113 M 1151 0 2 "" NA18544,NA18619 nsv508248 1 18064405 18140305 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622757 S 4 0 1 ACTL8 NA18994 nsv518590 1 18073505 18074702 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696036 S 2026 0 1 "" esv2669735 1 18108502 18109751 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6161052,essv5631732 M 1151 0 2 ACTL8 NA19434,NA19438 esv2744630 1 18223923 18224047 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM072 nsv161140 1 18224131 18224131 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179718 M 24 "" esv275339 1 18230535 18236619 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585726 S 1250 0 1 "" nsv871819 1 18259463 18305292 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582210 S 6533 0 1 "" IS35853 esv269411 1 18271070 18271412 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 18281915 18489101 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 18312667 18378631 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 18331363 18331792 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 18348784 18412381 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694696 S 2026 0 1 "" esv2744641 1 18367666 18367815 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM070 nsv526833 1 18374940 18377790 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703190 S 2026 0 1 "" nsv834324 1 18500907 18681334 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443840 S 95 1 0 IGSF21 nsv4409 1 18506997 18540366 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8323 S 9 1 0 IGSF21 NA12156 nsv460684 1 18543784 18557745 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537223 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IGSF21 HGDP00554 nsv4520 1 18561919 18597077 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3912 S 9 1 0 IGSF21 NA12878 nsv528445 1 18579038 18600824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705040 S 2026 0 1 IGSF21 nsv834336 1 18626853 18813200 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443852 S 95 0 1 IGSF21,KLHDC7A nsv870620 1 18626917 18768011 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 18629501 18662260 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6396 S 9 1 0 IGSF21 NA12156 esv2744652 1 18656074 18657465 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 37 IGSF21 SSM003,SSM005,SSM009,SSM012,SSM019,SSM021,SSM024,SSM025,SSM026,SSM027,SSM029,SSM030,SSM036,SSM037,SSM041,SSM042,SSM047,SSM052,SSM053,SSM059,SSM061,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM071,SSM072,SSM077,SSM080,SSM081,SSM084,SSM086,SSM091,SSM092,SSM100 esv2744663 1 18656871 18657393 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 11 IGSF21 SSM036,SSM037,SSM065,SSM069,SSM071,SSM072,SSM080,SSM084,SSM086,SSM091,SSM100 esv2744674 1 18656937 18657097 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 IGSF21 SSM080 esv994039 1 18657082 18657177 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 esv2744685 1 18681029 18681596 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 17 IGSF21 SSM003,SSM013,SSM017,SSM022,SSM024,SSM026,SSM029,SSM033,SSM036,SSM037,SSM039,SSM040,SSM042,SSM043,SSM070,SSM082,SSM084 esv2744697 1 18681258 18681429 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 IGSF21 SSM033,SSM082 esv2744708 1 18681291 18681594 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 IGSF21 SSM042 esv2744719 1 18683735 18684261 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 IGSF21 SSM018 esv2744730 1 18689768 18690202 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 IGSF21 SSM018,SSM031 nsv4743 1 18702595 18747810 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8453 S 9 0 1 IGSF21 NA12156 esv2660755 1 18722396 18722729 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6325343 S 1151 0 1 "" NA19625 esv259461 1 18792434 18792711 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 18792538 18792538 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 18792540 18792540 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179465 M 24 "" esv1135568 1 18792601 18792601 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108538 S 2 1 0 "" HuRef nsv159998 1 18792609 18792609 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178576 M 24 "" esv275146 1 18800247 18807117 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585623 S 1250 0 1 "" nsv871296 1 18812176 18979874 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 18813026 18813445 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695742 S 2026 0 1 "" nsv4854 1 18872931 18918581 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6404 S 9 0 1 "" NA12156 nsv460706 1 18893592 18908865 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537241 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01278 esv1600907 1 18924634 18924704 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315808 S 2 0 1 "" HuRef esv2744741 1 18928909 18929277 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM074,SSM087 esv2744752 1 18931073 18931691 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 12 "" SSM013,SSM017,SSM018,SSM019,SSM023,SSM027,SSM033,SSM036,SSM065,SSM077,SSM081,SSM098 esv2744763 1 18931335 18931635 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 "" SSM023,SSM077,SSM098 nsv4965 1 18931812 18965386 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5358 S 9 1 0 PAX7 NA19129 nsv5076 1 18985602 19030274 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8574 S 9 0 1 PAX7 NA12156 nsv506920 1 18995478 19001478 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619225 S 4 1 0 PAX7 NA10860 nsv870794 1 18999831 19088418 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 19052489 19052640 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276923 S 1 0 1 PAX7 NA18507 esv1070523 1 19070964 19070964 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207695 S 2 1 0 PAX7 HuRef nsv5187 1 19082078 19126984 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8645 S 9 0 1 "" NA12156 nsv870906 1 19126199 19208231 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552653 S 6533 1 0 ALDH4A1,TAS1R2 MS19571 esv2744774 1 19128308 19128406 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM080 esv2589469 1 19151146 19152623 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385528 S 1 0 1 "" NA18507 esv3876 1 19151751 19152405 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26317 S 1 0 1 Single Asian sample YH "" YH esv2744785 1 19151835 19152235 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 54 "" SSM001,SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM008,SSM009,SSM010,SSM012,SSM013,SSM015,SSM016,SSM017,SSM018,SSM019,SSM021,SSM022,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM030,SSM033,SSM037,SSM042,SSM047,SSM049,SSM050,SSM053,SSM056,SSM057,SSM058,SSM059,SSM062,SSM064,SSM065,SSM066,SSM067,SSM068,SSM074,SSM077,SSM082,SSM083,SSM084,SSM085,SSM087,SSM091,SSM092,SSM093,SSM099 nsv834347 1 19242771 19468922 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443863 S 95 1 0 IFFO2,UBR4 esv2744796 1 19252398 19252749 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 3 IFFO2 SSM035,SSM084,SSM096 nsv512722 1 19252421 19252907 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625347 S 1 1 0 IFFO2 1 esv26882 1 19326226 19328463 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16565 S 451 0 1 "" NA18858 esv21929 1 19355651 19359876 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16928 S 451 0 1 "" NA19257 nsv5298 1 19365375 19402608 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2867,nssv5363,nssv3923 M 9 3 0 UBR4 NA12878,NA18555,NA19129 nsv508980 1 19368842 19424251 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621084 S 4 1 0 UBR4 NA15510 dgv24e199 1 19369872 19373219 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2665756,esv2660808 M 1151 0 1 "" HG00418 esv2661924 1 19371365 19373385 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5419973 S 1151 0 1 "" HG00418 esv1963532 1 19386462 19386805 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528609 S 1 0 1 "" NA18507 esv2661885 1 19386609 19387143 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6335539,essv6130313,essv5618206,essv5641231,essv5687689,essv5433943,essv5854987,essv5469295 M 1151 0 8 "" NA18489,NA18498,NA18548,NA18856,NA18933,NA18959,NA19663,NA19920 esv2744808 1 19386654 19386888 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM081,SSM098 esv29322 1 19386662 19387372 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11291 S 451 0 2 "" NA12006,NA19225 nsv512723 1 19387799 19387917 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625348 S 1 1 0 "" 1 nsv470702 1 19542931 19579969 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547715 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA0090,MRTO4 HGDP01179 nsv871933 1 19568972 19686937 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 esv2744819 1 19593308 19614922 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 16 AKR7A3,AKR7L SSM004,SSM007,SSM009,SSM013,SSM019,SSM028,SSM038,SSM042,SSM043,SSM058,SSM062,SSM073,SSM076,SSM082,SSM085,SSM097 dgv25e199 1 19596585 19614159 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2663537,esv2659057 M 1151 0 23 AKR7A3,AKR7L HG00253,HG00320,HG00422,HG00543,HG00637,HG00693,HG01107,HG01441,NA10851,NA11930,NA18523,NA19072,NA19213,NA19235,NA19374,NA19445,NA19452,NA19461,NA19704,NA19755,NA19834,NA20340,NA20344 esv26443 1 19599632 19614527 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11560 S 451 0 2 AKR7A3,AKR7L NA18523,NA18858 esv2744830 1 19625144 19626333 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 "" SSM015 nsv871934 1 19627876 19686937 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 19642326 19686937 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870883,nsv870761 M 6533 0 2 CAPZB,PQLC2 MS10311,MS22103 esv2547343 1 19646723 19648947 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328741 S 1 0 1 PQLC2 NA18507 esv2660555 1 19647189 19648341 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6423245,essv5516489,essv6502609,essv6062088,essv6397292,essv5539812,essv6452882,essv6150029,essv6397280,essv5971308,essv6581219,essv5560725,essv6586113,essv6143651,essv6353463,essv6117639,essv6524171,essv5589110,essv6382508,essv5897392,essv6545446,essv5884607,essv6262062,essv5605436,essv6177338,essv6131776,essv6474845,essv5630160,essv6373180,essv5762404,essv5657035,essv5657975,essv5670067,essv5895796,essv6066976,essv5947311,essv6037947,essv5672962,essv5856439,essv5452959,essv5457820,essv5466640,essv6057476,essv6081891,essv5502447,essv5503826 M 1151 0 46 PQLC2 HG00640,HG01069,HG01174,HG01384,HG01462,NA18487,NA18489,NA18507,NA18510,NA18861,NA18867,NA18868,NA18871,NA18873,NA18874,NA18908,NA18912,NA18923,NA18924,NA18934,NA19108,NA19129,NA19171,NA19201,NA19225,NA19236,NA19238,NA19239,NA19240,NA19256,NA19257,NA19355,NA19371,NA19372,NA19373,NA19383,NA19435,NA19449,NA19457,NA19463,NA19467,NA19707,NA19713,NA19835,NA19908,NA20346 esv2674133 1 19656618 19661193 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6015034,essv6084393,essv5808480 M 1151 0 3 "" HG01359,HG01366,NA19758 nsv871443 1 19659349 19686937 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555759 S 6533 0 1 CAPZB MS21536 esv2744841 1 19724522 19724897 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 CAPZB SSM017,SSM031 nsv834358 1 19727865 19906027 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443874 S 95 0 1 CAPZB nsv5409 1 19731298 19735874 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1934 S 9 1 0 CAPZB NA18555 esv2744852 1 19761089 19761847 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 CAPZB SSM001,SSM008,SSM023,SSM031,SSM068,SSM089 esv2398290 1 19761260 19761789 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666927 S 1 0 1 CAPZB NA18507 esv3747 1 19761360 19761664 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26188 S 1 0 1 Single Asian sample YH CAPZB YH esv2744863 1 19761364 19761560 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 CAPZB SSM023,SSM068 nsv471771 1 19761390 19761611 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646052 M 1.068 95 CAPZB esv6224 1 19761424 19761609 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28665 S 1 0 1 CAPZB SJK dgv26e199 1 19761427 19761593 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2673483,esv2666198 M 1151 0 244 CAPZB HG00108,HG00120,HG00125,HG00127,HG00140,HG00154,HG00174,HG00177,HG00180,HG00182,HG00183,HG00186,HG00187,HG00231,HG00232,HG00237,HG00242,HG00244,HG00246,HG00250,HG00251,HG00252,HG00254,HG00257,HG00259,HG00260,HG00266,HG00268,HG00273,HG00274,HG00275,HG00276,HG00278,HG00280,HG00282,HG00285,HG00309,HG00313,HG00319,HG00323,HG00324,HG00326,HG00328,HG00330,HG00334,HG00336,HG00337,HG00338,HG00339,HG00343,HG00345,HG00346,HG00353,HG00361,HG00367,HG00369,HG00372,HG00377,HG00419,HG00437,HG00443,HG00448,HG00473,HG00476,HG00478,HG00500,HG00501,HG00512,HG00524,HG00525,HG00534,HG00542,HG00554,HG00557,HG00583,HG00584,HG00593,HG00613,HG00619,HG00620,HG00634,HG00650,HG00653,HG00654,HG00656,HG00662,HG00683,HG00684,HG00690,HG00692,HG00699,HG00701,HG00737,HG00740,HG01048,HG01052,HG01067,HG01075,HG01082,HG01083,HG01113,HG01124,HG01125,HG01133,HG01137,HG01140,HG01174,HG01250,HG01360,HG01366,HG01374,HG01377,HG01465,HG01491,HG01518,HG01521,HG01522,HG01551,NA07357,NA10847,NA10851,NA11830,NA11881,NA11894,NA11920,NA11932,NA11993,NA12003,NA12004,NA12044,NA12045,NA12046,NA12058,NA12144,NA12156,NA12275,NA12283,NA12286,NA12414,NA12749,NA12761,NA12763,NA12827,NA12828,NA12829,NA12830,NA12891,NA18486,NA18501,NA18507,NA18517,NA18519,NA18520,NA18534,NA18541,NA18547,NA18548,NA18557,NA18558,NA18559,NA18561,NA18565,NA18567,NA18572,NA18577,NA18582,NA18595,NA18596,NA18597,NA18599,NA18602,NA18606,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18623,NA18632,NA18633,NA18636,NA18853,NA18861,NA18909,NA18933,NA18940,NA18942,NA18943,NA18945,NA18948,NA18953,NA18956,NA18960,NA18961,NA18965,NA18972,NA18975,NA18980,NA18983,NA18987,NA19004,NA19009,NA19083,NA19087,NA19088,NA19114,NA19116,NA19160,NA19210,NA19239,NA19313,NA19316,NA19319,NA19328,NA19331,NA19381,NA19394,NA19428,NA19445,NA19449,NA19466,NA19467,NA19663,NA19664,NA19670,NA19728,NA19732,NA19749,NA19773,NA19777,NA19789,NA20278,NA20314,NA20504,NA20507,NA20520,NA20524,NA20529,NA20541,NA20586,NA20752,NA20773 esv2744874 1 19787741 19787841 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 CAPZB SSM080 esv2744885 1 19787742 19787956 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 CAPZB SSM015,SSM030 nsv470703 1 19849656 19904211 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547716 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01049 nsv508991 1 19894068 20032404 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621085 S 4 1 0 C1orf151,C1orf15-NBL1,HTR6,NBL1,TMCO4 NA15510 esv2665636 1 19895344 19902131 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5484167 S 1151 0 1 "" NA20754 esv273533 1 19898252 19898500 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 19930229 19946810 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 esv2744896 1 19954861 19955114 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 C1orf151,C1orf15-NBL1 SSM029 nsv159533 1 19954878 19954943 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178111 M 24 C1orf151,C1orf15-NBL1 esv2395760 1 19969294 19969727 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876743 S 1 0 1 C1orf15-NBL1,NBL1 NA18507 esv7640 1 19969401 19969456 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30081 S 1 1 0 C1orf15-NBL1 SJK esv2744907 1 19969459 19969656 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 C1orf15-NBL1 SSM028,SSM031 esv2665804 1 19969467 19969611 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6477665,essv5523208,essv6576085,essv5527392,essv6502108,essv6069894,essv6504015,essv5781165,essv6511055,essv5875277,essv6426654,essv6003600,essv6408548,essv6096985,essv6560099,essv6321951,essv6397529,essv6050765,essv6554793,essv5605740,essv5726227,essv6091084,essv6137860,essv5639250,essv5759792,essv5652595,essv5931890,essv5663368,essv5676047,essv6164313,essv6232076,essv5792817,essv6299994,essv6118858,essv5923218,essv6036115,essv5406583,essv6295411,essv5688136,essv5428971,essv5866477,essv5459437,essv6358926,essv5879207,essv5481825,essv5772995,essv6052525,essv5512168 M 1151 0 48 C1orf15-NBL1 HG00103,HG00325,HG00344,HG00475,HG00524,HG00654,HG00683,HG01048,HG01066,HG01107,HG01108,HG01134,HG01171,HG01174,HG01390,NA18486,NA18489,NA18510,NA18532,NA18543,NA18907,NA18934,NA19093,NA19116,NA19190,NA19197,NA19360,NA19372,NA19374,NA19375,NA19377,NA19381,NA19382,NA19383,NA19384,NA19385,NA19393,NA19394,NA19398,NA19399,NA19404,NA19436,NA19451,NA19774,NA20127,NA20340,NA20344,NA20796 dgv187n71 1 19978895 19995491 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870605,nsv871844 M 6533 0 2 C1orf15-NBL1,HTR6,NBL1 SP54672,SP54956 esv2744920 1 20024255 20025844 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 TMCO4 SSM047 nsv870984 1 20031148 20183342 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 20090476 20091962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11329 S 451 0 1 TMCO4 NA18861 nsv460717 1 20236731 20250799 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537249 S 1557 0 1 OTUD3,PLA2G2E NINDS_168 esv269632 1 20257064 20257406 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 20257064 20257406 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 20258605 20259713 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284149 S 1 1 0 "" NA18507 nsv871115 1 20269169 20315599 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558418 S 6533 1 0 PLA2G2A MS23257 dgv27e199 1 20286437 20288670 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2673958,esv2660117 M 1151 0 2 "" NA18984,NA19007 nsv527818 1 20305887 20380145 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704313 S 2026 1 0 PLA2G2A nsv5520 1 20397546 20442471 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5380 S 9 0 1 PLA2G2D,PLA2G5 NA19129 esv2435763 1 20406348 20411107 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290042 S 1 0 1 PLA2G5 NA18507 esv2164449 1 20406962 20410799 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4803624 S 1 0 1 PLA2G5 NA18507 esv2665474 1 20407085 20410687 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5837270,essv6533474,essv5821285,essv6515285,essv6291991,essv5835649,essv6145917,essv5760173,essv5474749 M 1151 0 9 PLA2G5 NA18517,NA18871,NA19129,NA19190,NA19248,NA19390,NA19463,NA19654,NA19900 esv25446 1 20407098 20410672 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21099 S 451 0 3 PLA2G5 NA18517,NA19129,NA19190 nsv519515 1 20408181 20409374 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 20431069 20442978 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 20496809 20498171 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295790 S 1 0 1 PLA2G2C NA18507 esv2380061 1 20497001 20497921 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621106 S 1 0 1 PLA2G2C NA18507 esv2744931 1 20497186 20497731 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 30 PLA2G2C SSM003,SSM007,SSM013,SSM015,SSM018,SSM023,SSM024,SSM025,SSM026,SSM031,SSM035,SSM038,SSM039,SSM044,SSM046,SSM047,SSM062,SSM064,SSM069,SSM072,SSM074,SSM078,SSM079,SSM082,SSM086,SSM087,SSM088,SSM090,SSM092,SSM099 esv2674305 1 20497189 20497737 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6089174,essv5515606,essv6122097,essv5905007,essv5520628,essv5741907,essv6138021,essv5885421,essv5526620,essv6033012,essv6385212,essv5530247,essv6424152,essv5533443,essv5945934,essv6502082,essv6249313,essv6079286,essv6135747,essv5807104,essv6201168,essv6288203,essv6389578,essv5547554,essv5999134,essv5548216,essv6511354,essv6379449,essv6589894,essv5550212,essv5790037,essv6215104,essv6171897,essv5826395,essv5678867,essv6545892,essv5958099,essv5560105,essv6066631,essv5931692,essv5560633,essv6585594,essv5569196,essv6239053,essv5672697,essv6511384,essv6423702,essv5671785,essv5576160,essv5576319,essv5576538,essv5578373,essv5994808,essv6208024,essv5985987,essv5583052,essv5744083,essv6469395,essv5816191,essv6381398,essv5758005,essv5588541,essv5742905,essv6227831,essv6240908,essv5905206,essv5896679,essv6295662,essv6510213,essv6573679,essv5600177,essv5841113,essv5749697,essv5789530,essv5602717,essv6168214,essv5828502,essv5612185,essv6395277,essv5907651,essv6446714,essv5619101,essv5927148,essv5900631,essv6237961,essv5628913,essv6455974,essv6597200,essv5930820,essv6442756,essv6585776,essv6393786,essv5984146,essv5636122,essv6251699,essv5898611,essv5640472,essv5641653,essv5643449,essv5645938,essv6322211,essv5732812,essv6209303,essv5975806,essv6359596,essv5885757,essv6290536,essv5655903,essv5656975,essv6224351,essv6174027,essv5662963,essv5887773,essv5811876,essv6160665,essv5918889,essv6026232,essv6024083,essv6023297,essv6488897,essv6369149,essv5841476,essv6545711,essv6317774,essv6547847,essv6359341,essv6565376,essv6114740,essv5822577,essv5812424,essv6442812,essv6589632,essv6553543,essv6588608,essv6589463,essv6124609,essv6418963,essv5946473,essv5802403,essv5830619,essv5905453,essv5707580,essv6156014,essv5807407,essv6523208,essv6582638,essv5696823,essv6491599,essv6112671,essv6359619,essv6378443,essv5884253,essv6173243,essv5934359,essv6580103,essv6178870,essv6037922,essv6034059,essv5833887,essv5700124,essv6505583,essv5833762,essv6065859,essv6104301,essv5667866,essv6444298,essv5402346,essv5402368,essv6260426,essv5408799,essv5675735,essv5410324,essv6262415,essv6561292,essv6111390,essv6281719,essv5848077,essv5420129,essv5420974,essv5851510,essv5423291,essv6126763,essv5426160,essv5428448,essv5729622,essv6357832,essv6234925,essv5859223,essv5433733,essv5434151,essv5859723,essv6146226,essv6227949,essv6111213,essv6443840,essv6102601,essv6461707,essv5861282,essv6527922,essv5767841,essv5763251,essv5687687,essv5690138,essv5866475,essv6468002,essv5864897,essv5739202,essv6515092,essv6525136,essv6356710,essv6154907,essv5458547,essv6248930,essv6225022,essv6264007,essv6260831,essv5468773,essv5469079,essv5469661,essv5470467,essv5471457,essv6128857,essv5472356,essv6106708,essv5887205,essv6535284,essv5761706,essv6495603,essv6087089,essv6517871,essv5882383,essv6205933,essv5916238,essv6051400,essv5991652,essv5830785,essv6558494,essv5825255,essv5886149,essv6190844,essv5499207,essv5500187,essv5734667,essv6454113,essv6016378,essv5504163,essv5924639,essv5973010 M 1151 0 248 PLA2G2C HG00100,HG00103,HG00108,HG00117,HG00120,HG00123,HG00124,HG00126,HG00133,HG00137,HG00139,HG00148,HG00150,HG00152,HG00154,HG00158,HG00186,HG00187,HG00190,HG00242,HG00245,HG00249,HG00251,HG00254,HG00259,HG00262,HG00265,HG00270,HG00273,HG00282,HG00284,HG00309,HG00313,HG00323,HG00334,HG00344,HG00357,HG00368,HG00422,HG00437,HG00463,HG00464,HG00475,HG00500,HG00512,HG00524,HG00534,HG00536,HG00537,HG00542,HG00543,HG00560,HG00565,HG00566,HG00577,HG00584,HG00596,HG00607,HG00608,HG00610,HG00613,HG00619,HG00629,HG00635,HG00653,HG00672,HG00689,HG00690,HG00701,HG00705,HG00732,HG01047,HG01051,HG01066,HG01080,HG01102,HG01107,HG01136,HG01140,HG01149,HG01170,HG01174,HG01177,HG01374,HG01384,HG01390,HG01491,HG01492,HG01550,NA07000,NA07037,NA07051,NA07357,NA11829,NA11881,NA11894,NA11918,NA11920,NA11932,NA11933,NA11994,NA12275,NA12347,NA12348,NA12399,NA12400,NA12414,NA12489,NA12717,NA12750,NA12775,NA12778,NA12827,NA12842,NA12892,NA18486,NA18498,NA18502,NA18511,NA18519,NA18520,NA18522,NA18526,NA18532,NA18536,NA18541,NA18543,NA18559,NA18563,NA18592,NA18593,NA18595,NA18596,NA18597,NA18606,NA18609,NA18621,NA18623,NA18626,NA18628,NA18637,NA18853,NA18856,NA18858,NA18861,NA18907,NA18908,NA18910,NA18912,NA18923,NA18924,NA18941,NA18944,NA18952,NA18953,NA18959,NA18963,NA18964,NA18982,NA18987,NA18990,NA18991,NA19007,NA19012,NA19059,NA19064,NA19074,NA19075,NA19077,NA19093,NA19114,NA19116,NA19130,NA19138,NA19172,NA19190,NA19213,NA19225,NA19238,NA19239,NA19257,NA19317,NA19360,NA19371,NA19372,NA19376,NA19383,NA19394,NA19396,NA19397,NA19399,NA19404,NA19431,NA19444,NA19445,NA19446,NA19449,NA19452,NA19453,NA19455,NA19457,NA19462,NA19466,NA19472,NA19657,NA19664,NA19700,NA19701,NA19707,NA19713,NA19717,NA19720,NA19750,NA19776,NA19818,NA19834,NA19901,NA19920,NA19982,NA20332,NA20344,NA20356,NA20503,NA20513,NA20514,NA20518,NA20521,NA20525,NA20533,NA20543,NA20582,NA20756,NA20760,NA20766,NA20768,NA20770,NA20771,NA20778,NA20795,NA20796,NA20798,NA20801,NA20802,NA20807,NA20808,NA20813,NA20818,NA20828 esv26523 1 20497229 20497789 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11635 S 451 0 1 PLA2G2C NA18858 esv2674003 1 20498729 20500566 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5773198 S 1151 0 1 PLA2G2C NA18505 esv26309 1 20499004 20500798 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10552 S 451 0 1 PLA2G2C NA18505 esv1000843 1 20541629 20545456 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 esv2744942 1 20581491 20581761 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 19 "" SSM004,SSM006,SSM028,SSM029,SSM032,SSM033,SSM034,SSM037,SSM043,SSM045,SSM056,SSM058,SSM061,SSM071,SSM073,SSM075,SSM078,SSM086,SSM088 nsv818100 1 20601012 20604959 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417739 S 112 0 1 "" NA19003 esv24128 1 20614631 20616067 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16821 S 451 1 0 "" NA11993 esv2669937 1 20642964 20643866 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5510095 S 1151 0 1 VWA5B1 NA19380 nsv871750 1 20652798 20717763 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 20664832 20707626 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 20683946 20717763 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 20708577 20709500 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214092 S 1 1 0 LOC339505 NA18507 esv2560487 1 20789862 20790311 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314979 S 1 1 0 "" NA18507 nsv512724 1 20789982 20790088 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625349 S 1 1 0 "" 1 nsv821943 1 20806011 20818647 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426380 S 31 1 0 CAMK2N1 AK6 esv2666516 1 20864032 20864746 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6512414,essv5960035,essv6575030,essv5537001,essv6508551,essv6258354,essv6452883,essv5540106,essv6577434,essv5545226,essv6484071,essv5925105,essv6479738,essv5664172,essv6435697,essv6097162,essv6451843,essv5839828,essv6539682,essv5952106,essv6413604,essv5566968,essv6493657,essv5782824,essv6525808,essv6377930,essv6445054,essv5576176,essv6467170,essv5911912,essv6252389,essv6385765,essv6164230,essv6006154,essv6389030,essv5610021,essv6252992,essv6044805,essv5747728,essv6124937,essv5915222,essv5630370,essv6364464,essv5716749,essv5656747,essv5969944,essv5662994,essv6402543,essv5792781,essv5670667,essv5837165,essv5935916,essv6252171,essv5677582,essv5935990,essv6196064,essv6343220,essv5884238,essv5700553,essv6336884,essv6171369,essv6115128,essv6399228,essv5400794,essv5820883,essv5747090,essv5730927,essv5748798,essv6236836,essv6138285,essv5865398,essv5693951,essv5862950,essv6096258,essv5477050,essv5480391,essv6162102,essv6048600,essv6027573,essv6175706 M 1151 0 80 "" HG00096,HG00100,HG00106,HG00123,HG00136,HG00140,HG00179,HG00183,HG00243,HG00247,HG00249,HG00250,HG00251,HG00258,HG00265,HG00275,HG00281,HG00313,HG00345,HG00346,HG00373,HG00449,HG00578,HG00581,HG00589,HG00635,HG00672,HG00689,HG01066,HG01198,HG01350,HG01383,HG01384,HG01498,NA06994,NA07051,NA07346,NA10847,NA10851,NA11843,NA11931,NA12003,NA12043,NA12154,NA12287,NA12348,NA12400,NA12489,NA12718,NA12776,NA18550,NA18561,NA18570,NA18577,NA18605,NA18619,NA18621,NA18627,NA18960,NA18974,NA19010,NA19059,NA19062,NA19448,NA19652,NA19681,NA19717,NA19750,NA19776,NA19786,NA20534,NA20581,NA20586,NA20757,NA20758,NA20773,NA20774,NA20783,NA20800,NA20813 nsv460729 1 20893965 20918912 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537251 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDA HGDP00552 esv2744953 1 20913417 20913872 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 8 "" SSM005,SSM008,SSM012,SSM013,SSM026,SSM027,SSM034,SSM092 esv2744964 1 20913614 20913748 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 2 "" SSM013,SSM034 esv2750602 1 20914292 20915117 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95034 S 51 0 1 "" 22231 nsv528156 1 20915701 20934796 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704704 S 2026 0 1 CDA esv998962 1 20925389 20931167 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 20931626 20932807 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626320 S 1 0 1 CDA 1 esv2744975 1 20931928 20932748 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 26 CDA SSM003,SSM009,SSM010,SSM012,SSM013,SSM015,SSM017,SSM018,SSM022,SSM024,SSM025,SSM033,SSM042,SSM047,SSM050,SSM052,SSM057,SSM058,SSM059,SSM061,SSM062,SSM064,SSM065,SSM077,SSM078,SSM081 esv2662052 1 20932021 20932703 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6275823,essv6056620,essv6235589,essv5515735,essv6492796,essv6031650,essv6287642,essv5920190,essv6292633,essv5715935,essv6241040,essv5944129,essv6368083,essv5788383,essv6542303,essv5523510,essv6438164,essv5523972,essv6232916,essv5524287,essv6503564,essv5811096,essv6334263,essv5528281,essv6416548,essv5888779,essv6307078,essv5529439,essv6570891,essv6209410,essv6303497,essv5778151,essv6241710,essv5747584,essv6320404,essv5876053,essv6564496,essv5540643,essv6510741,essv5541113,essv6574576,essv5541555,essv6400914,essv5541944,essv6446467,essv5542101,essv6573247,essv5722882,essv6443022,essv6012887,essv6360073,essv5816528,essv6564038,essv5966325,essv6481797,essv6130991,essv6224087,essv5724648,essv6494487,essv6214037,essv6353329,essv5756679,essv6326930,essv5565651,essv6304936,essv6175850,essv6518744,essv5568623,essv6582095,essv6190086,essv6541489,essv5572605,essv6306421,essv5572999,essv6523695,essv6079307,essv6529888,essv5943530,essv6364970,essv5971355,essv6492742,essv6138679,essv6568029,essv5792848,essv6430305,essv5580091,essv6374313,essv6045619,essv6255633,essv5585858,essv6403490,essv5587418,essv6398621,essv5591420,essv6516888,essv5598538,essv6220008,essv5744037,essv6248588,essv5760311,essv6438711,essv5605354,essv6362714,essv5784312,essv6368023,essv5607865,essv6237024,essv5608227,essv6341898,essv5816688,essv6402968,essv5879759,essv6572781,essv5615755,essv6591096,essv6120057,essv6574194,essv5722306,essv6456623,essv5842995,essv6318683,essv6031034,essv6345672,essv5756384,essv6518215,essv6164775,essv6292225,essv6019783,essv6301018,essv6052811,essv6361014,essv5633996,essv6242935,essv6120485,essv6364101,essv6153110,essv6564016,essv5779017,essv6492211,essv5783140,essv6451269,essv5919387,essv6254947,essv5642986,essv6325124,essv5845284,essv6291874,essv6136286,essv6302367,essv6079603,essv6548793,essv5719383,essv6320451,essv6018103,essv6222217,essv5654792,essv6527287,essv5656480,essv6353846,essv5656889,essv6496266,essv5811222,essv6346408,essv6098705,essv6400883,essv5659744,essv6409483,essv6200060,essv6299388,essv5749467,essv6312618,essv5664725,essv6500341,essv5928710,essv6500839,essv6129397,essv6360623,essv5672844,essv6379903,essv5967351,essv6418450,essv5818983,essv6458202,essv5811874,essv6263204,essv6148007,essv6496663,essv5680664,essv6250228,essv5682478,essv6438354,essv5909672,essv6393006,essv5835891,essv6577306,essv5951665,essv6564891,essv5940836,essv6454477,essv6048428,essv6299749,essv6117694,essv6552307,essv5881823,essv6458803,essv5703696,essv6563347,essv6065949,essv6382905,essv5816332,essv6381478,essv6006923,essv6267779,essv6016217,essv6573741,essv5878348,essv6370159,essv5769073,essv6430975,essv5926916,essv6309141,essv5933672,essv6265404,essv5942273,essv6587964,essv5783168,essv6508337,essv5670435,essv6330699,essv6108595,essv6361825,essv5794174,essv6544710,essv5677097,essv5943189,essv5997307,essv5741046,essv5751143,essv6008394,essv5778072,essv5905508,essv6038952,essv6149811,essv5704637,essv5785715,essv6194858,essv5823925,essv6167763,essv5698404,essv5401619,essv5402906,essv5403437,essv6124623,essv6186558,essv5769349,essv5697499,essv6212909,essv6188391,essv5412726,essv6204799,essv5413866,essv5852592,essv6060776,essv5416571,essv5851825,essv5849793,essv5418410,essv5422410,essv5423115,essv5694564,essv5424286,essv5424711,essv6081416,essv5425926,essv5429995,essv5857210,essv5859251,essv5857844,essv5714832,essv5438604,essv5740556,essv5440277,essv5694999,essv5442437,essv5863752,essv6152435,essv5868366,essv5449560,essv5691789,essv5458729,essv5459012,essv5869539,essv5680691,essv5735089,essv5870497,essv6005883,essv5473856,essv5474373,essv5969357,essv5770146,essv5487006,essv6161004,essv5990544,essv5489417,essv5490529,essv5493535,essv5988819,essv6200201,essv5496598,essv5496811,essv5498011,essv5782020,essv5784967,essv6019561,essv5504469,essv6011390,essv5736333,essv6098042,essv5510105,essv5983099,essv5994467 M 1151 0 321 CDA HG00108,HG00114,HG00116,HG00118,HG00126,HG00131,HG00136,HG00137,HG00143,HG00146,HG00150,HG00151,HG00154,HG00156,HG00158,HG00159,HG00173,HG00174,HG00176,HG00177,HG00178,HG00179,HG00180,HG00181,HG00182,HG00186,HG00188,HG00190,HG00231,HG00232,HG00242,HG00243,HG00247,HG00251,HG00252,HG00253,HG00254,HG00260,HG00261,HG00262,HG00264,HG00265,HG00266,HG00267,HG00269,HG00271,HG00272,HG00273,HG00274,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00306,HG00310,HG00311,HG00312,HG00315,HG00318,HG00319,HG00320,HG00321,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00330,HG00331,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00344,HG00346,HG00357,HG00366,HG00368,HG00369,HG00403,HG00404,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00472,HG00473,HG00475,HG00478,HG00479,HG00500,HG00501,HG00513,HG00530,HG00531,HG00533,HG00534,HG00553,HG00554,HG00556,HG00559,HG00565,HG00566,HG00577,HG00578,HG00584,HG00589,HG00592,HG00593,HG00595,HG00596,HG00607,HG00608,HG00610,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00629,HG00634,HG00635,HG00637,HG00638,HG00650,HG00651,HG00653,HG00656,HG00672,HG00683,HG00684,HG00689,HG00698,HG00699,HG00701,HG00707,HG00708,HG00732,HG00734,HG00740,HG01047,HG01048,HG01051,HG01060,HG01061,HG01066,HG01067,HG01070,HG01072,HG01073,HG01083,HG01107,HG01124,HG01125,HG01136,HG01137,HG01140,HG01148,HG01149,HG01173,HG01174,HG01188,HG01190,HG01350,HG01351,HG01354,HG01366,HG01374,HG01383,HG01437,HG01440,HG01461,HG01465,HG01489,HG01491,NA11893,NA11994,NA12058,NA12155,NA12273,NA12275,NA12340,NA12400,NA12718,NA18523,NA18530,NA18534,NA18536,NA18541,NA18543,NA18549,NA18557,NA18559,NA18561,NA18566,NA18576,NA18577,NA18579,NA18582,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18612,NA18613,NA18615,NA18616,NA18619,NA18624,NA18628,NA18631,NA18633,NA18637,NA18638,NA18867,NA18868,NA18874,NA18908,NA18910,NA18941,NA18961,NA18963,NA18982,NA18987,NA18990,NA18999,NA19003,NA19004,NA19007,NA19009,NA19055,NA19056,NA19058,NA19064,NA19072,NA19080,NA19081,NA19082,NA19084,NA19085,NA19107,NA19130,NA19213,NA19247,NA19248,NA19312,NA19360,NA19373,NA19374,NA19377,NA19381,NA19383,NA19391,NA19395,NA19397,NA19401,NA19428,NA19431,NA19440,NA19443,NA19445,NA19452,NA19453,NA19455,NA19457,NA19461,NA19468,NA19470,NA19473,NA19648,NA19652,NA19654,NA19655,NA19657,NA19661,NA19663,NA19664,NA19675,NA19676,NA19678,NA19679,NA19681,NA19684,NA19685,NA19700,NA19704,NA19712,NA19713,NA19719,NA19722,NA19723,NA19726,NA19749,NA19750,NA19755,NA19762,NA19773,NA19774,NA19780,NA19834,NA19916,NA19920,NA19982,NA20510,NA20518,NA20586,NA20778,NA20819 esv24339 1 20932517 20933644 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19697 S 451 0 1 CDA NA18517 esv2667482 1 20932686 20933893 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6560816,essv5518407,essv5544381,essv6196714,essv6137654,essv5433646 M 1151 0 6 CDA HG00578,HG00581,HG00635,NA11920,NA18561,NA18574 nsv834369 1 20936263 21106330 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 20944715 20945069 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 20949897 20950285 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230908 S 1 1 0 "" NA18507 nsv870827 1 20951359 21337313 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 20951823 20953416 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192304 S 1 0 1 "" NA18507 esv2744986 1 20952011 20952854 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 19 "" SSM007,SSM026,SSM027,SSM029,SSM030,SSM031,SSM050,SSM052,SSM053,SSM057,SSM058,SSM059,SSM061,SSM063,SSM064,SSM078,SSM087,SSM088,SSM089 esv3920 1 20952262 20952778 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26361 S 1 0 1 Single Asian sample YH "" YH esv2744997 1 20952454 20952643 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 8 "" SSM026,SSM027,SSM031,SSM064,SSM078,SSM087,SSM088,SSM089 esv1075995 1 20952488 20952668 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629701 S 2 0 1 "" HuRef esv2745008 1 20952529 20952620 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 6 "" SSM026,SSM027,SSM031,SSM087,SSM088,SSM089 nsv522796 1 20994952 21002726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698440 S 2026 0 1 KIF17 nsv520013 1 21011182 21054726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697177 S 2026 0 1 KIF17,SH2D5 esv2667782 1 21018054 21019463 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5525773,essv6557917,essv5547289,essv6594100,essv5731404,essv6494223,essv5928540,essv6550563,essv5780634,essv5883895,essv5602906,essv5798637,essv6292798,essv6400707,essv5646836,essv5658876,essv5691986,essv6214188,essv6414528,essv5780664,essv6092160,essv6182331,essv5863408,essv6369625 M 1151 0 24 KIF17 NA10847,NA11930,NA11932,NA11994,NA12348,NA12748,NA12761,NA12827,NA12829,NA12889,NA18519,NA18522,NA18547,NA18550,NA18572,NA18608,NA18853,NA18912,NA18943,NA18952,NA18956,NA20761,NA20772,NA20812 nsv870993 1 21026961 21054726 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 21035578 21054726 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871506,nsv871790 M 6533 0 2 KIF17,SH2D5 SP54043,SP54725 nsv871858 1 21075458 21455915 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545849 S 6533 0 1 EIF4G3,HP1BP3 MS16986 esv2745019 1 21076725 21076859 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" S 96 0 1 HP1BP3 SSM036 nsv5742 1 21084887 21120011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3942 S 9 1 0 HP1BP3 NA12878 esv1356855 1 21142549 21142991 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611504 S 2 0 1 EIF4G3 HuRef esv2669682 1 21246359 21246520 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6064844,essv5778335,essv5988728,essv5924971 M 1151 0 4 EIF4G3 HG00136,HG00284,HG00318,HG00323 esv2745031 1 21307601 21308603 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 "" M 96 0 31 EIF4G3 SSM009,SSM012,SSM013,SSM015,SSM017,SSM018,SSM021,SSM022,SSM025,SSM026,SSM027,SSM028,SSM029,SSM037,SSM043,SSM045,SSM049,SSM052,SSM053,SSM055,SSM056,SSM059,SSM061,SSM064,SSM065,SSM067,SSM068,SSM070,SSM081,SSM084,SSM087 esv2675549 1 21343961 21345038 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5523132,essv5880328,essv5864480 M 1151 0 3 EIF4G3 NA19373,NA19374,NA19463 esv2672607 1 21346335 21346941 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5786414 S 1151 0 1 EIF4G3 NA19374 nsv834380 1 21399270 21574441 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443907 S 95 1 0 ECE1,EIF4G3 nsv160811 1 21428069 21431373 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179389 M 24 EIF4G3 esv1007787 1 21484792 21486447 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 21507888 21583311 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 21507888 21966833 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 21521167 21539904 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 21534237 21545582 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 21537097 21537519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804670 S 2 0 1 "" HuRef esv1006358 1 21573816 21586344 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 21627318 21627736 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765838 S 1 0 1 ECE1 NA18507 nsv515620 1 21657162 21657239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656270,nssv664134 M 2026 0 2 ECE1 esv23912 1 21658828 21659448 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14361 S 451 0 1 ECE1 NA19225 esv2671442 1 21684972 21687314 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5520850,essv6591962,essv6068623 M 1151 0 3 "" HG00501,HG00512,HG00524 esv34155 1 21693577 22166616 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ALPL,HSPG2,LDLRAD2,NBPF3,RAP1GAP,USP48 esv26055 1 21697490 21815162 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11019,esv14172,esv14152 M 451 8 0 NBPF3 NA15510,NA18502,NA18511,NA18523,NA18907,NA18909,NA18916,NA19225 esv2673455 1 21728786 21729157 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6394063,essv6384977,essv6074796,essv6326047,essv5422558,essv5453123 M 1151 0 6 "" NA18501,NA18504,NA18853,NA19704,NA19901,NA20287 nsv820559 1 21735472 21815162 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420269 S 1 1 0 NBPF3 NA10851 dgv42e1 1 21736184 21942414 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11654,esv191,essv11511 M 271 0 0 ALPL,NBPF3,RAP1GAP NA19154,NA19173 nsv428432 1 21736184 21942414 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454598,nssv454554,nssv454620,nssv454565,nssv454609,nssv454587,nssv454576 M 62 7 0 ALPL,NBPF3,RAP1GAP HGDP00460,HGDP00463,HGDP00472,HGDP01093,HGDP01094,NA18916,NA19096 nsv9435 1 21737743 21800195 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 21754443 21806350 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29510 S 1 0 0 NBPF3 SJK esv2675012 1 21757180 21760264 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6364153,essv6526188,essv5648710,essv6452771,essv6505857,essv5474967 M 1151 0 6 "" HG00186,HG00278,HG00373,NA19676,NA19720,NA20806 esv2745042 1 21786354 21786781 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6761866,essv6946504,essv6769525,essv6710591,essv6797454,essv6738816,essv6916762,essv6917439,essv6793295,essv6773444,essv6954753,essv6877668,essv6744941,essv6950565,essv6883257,essv6703864,essv6750608,essv6921733,essv6910055,essv6937687,essv6722011,essv6925696,essv6766551,essv6733489,essv6776942,essv6832604,essv6801620,essv6839979,essv6961566,essv6689267,essv6895850,essv6829006,essv6764169,essv6695721,essv6753503,essv6914005,essv6801932,essv6789158,essv6692774,essv6679178,essv6816765,essv6843891,essv6933312,essv6847029,essv6742147,essv6929060,essv6756559,essv6675206,essv6714251,essv6718976 M 96 0 50 NBPF3 SSM002,SSM003,SSM006,SSM007,SSM010,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM024,SSM025,SSM026,SSM027,SSM032,SSM033,SSM036,SSM037,SSM040,SSM042,SSM043,SSM045,SSM049,SSM052,SSM053,SSM055,SSM057,SSM058,SSM059,SSM062,SSM063,SSM064,SSM065,SSM066,SSM067,SSM070,SSM071,SSM072,SSM073,SSM081,SSM082,SSM084,SSM085,SSM086,SSM093,SSM095,SSM099 esv989724 1 21786418 21786689 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 21786420 21786691 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375893 S 1 0 1 NBPF3 NA18507 esv1311289 1 21786420 21786692 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347116 S 2 0 1 NBPF3 HuRef esv2745053 1 21787334 21787983 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6759053,essv6666905,essv6747790,essv6769526,essv6668962,essv6954754,essv6750610,essv6876920,essv6753504,essv6961567,essv6843887,essv6853247,essv6871721,essv6917441,essv6933313,essv6847030 M 96 0 16 NBPF3 SSM011,SSM012,SSM017,SSM021,SSM026,SSM027,SSM030,SSM031,SSM056,SSM057,SSM058,SSM061,SSM065,SSM086,SSM087,SSM091 esv2195718 1 21787551 21787999 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650166 S 1 0 1 NBPF3 NA18507 esv2745064 1 21787666 21787881 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668962,essv6954754,essv6961567,essv6843887,essv6853247,essv6871721,essv6847030 M 96 0 7 NBPF3 SSM011,SSM026,SSM027,SSM031,SSM086,SSM087,SSM091 esv1213372 1 21787745 21787809 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769496 S 2 0 1 NBPF3 HuRef nsv160214 1 21787746 21787809 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178792 M 24 NBPF3 esv2661318 1 21793442 21798216 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5446520 S 1151 0 1 NBPF3 HG00427 esv2677728 1 21822953 21828057 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6320059 S 1151 0 1 "" HG00174 nsv527108 1 21823292 21826566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703488 S 2026 0 1 "" nsv834391 1 21849933 22050482 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443918,nssv1443951,nssv1443940,nssv1443929,nssv1443963 M 95 0 5 ALPL,RAP1GAP,USP48 esv1457635 1 21853539 21853539 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639911 S 2 1 0 ALPL HuRef nsv517096 1 21863691 21996848 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 21864206 21996848 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871284,nsv871562 M 6533 0 2 ALPL,RAP1GAP MS10311,MS17208 esv2745075 1 21871040 21873481 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6839980 S 96 0 1 ALPL SSM084 dgv190n71 1 21882820 21910890 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870545,nsv870469 M 6533 0 2 ALPL IS30127,IS40799 nsv871612 1 21882820 21938375 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 21889506 21899491 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537258 S 1557 0 1 ALPL NINDS_181 esv2672081 1 21894315 21896436 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6529152 S 1151 0 1 ALPL HG00566 nsv871706 1 21901457 21953436 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 21904874 21980691 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622758 S 4 0 1 ALPL,RAP1GAP NA18994 nsv509002 1 21904874 21980691 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619779 S 4 1 0 ALPL,RAP1GAP NA10860 dgv191n71 1 21907604 21947720 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871398,nsv871444 M 6533 0 2 RAP1GAP IS39233,MS13770 nsv470704 1 21917234 21938374 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547717 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RAP1GAP HGDP00599 nsv871036 1 21917234 21966833 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 21921736 21953436 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870875,nsv871914 M 6533 0 2 RAP1GAP IS37172,MS18276 nsv870959 1 21927848 21996848 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 21935315 21944866 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 21935705 21983611 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 21958536 21988622 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537263 S 1557 0 1 RAP1GAP 1780854065_A nsv870764 1 21970289 22006721 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 22003149 22038109 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3954 S 9 1 0 USP48 NA12878 nsv5965 1 22040958 22071482 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6413 S 9 1 0 USP48 NA12156 nsv508470 1 22042665 22131109 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622759 S 4 0 1 USP48 NA18994 esv2678062 1 22086790 22087238 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5504319 S 1151 0 1 USP48 NA19311 nsv871274 1 22088841 22249589 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 esv2667441 1 22113086 22121370 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5484073 S 1151 0 1 "" NA19625 esv2660344 1 22117422 22121963 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6196403,essv5791389,essv6295021 M 1151 0 3 "" NA19102,NA19385,NA19439 nsv515659 1 22126329 22265293 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 22128578 22137971 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17753 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv509013 1 22131109 22301601 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621086 S 4 1 0 HSPG2,LDLRAD2 NA15510 dgv193n71 1 22131536 22184552 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 22131536 22216279 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870980,nsv871831,nsv870861 M 6533 0 4 HSPG2,LDLRAD2 MS10123,MS10769,MS16153,MS18276 esv33753 1 22131944 22137344 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93649 S 51 0 1 "" 21972 nsv834402 1 22135232 22323122 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443985,nssv1443996,nssv1443974 M 95 0 3 CELA3B,HSPG2,LDLRAD2 esv33407 1 22139098 22139218 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95073,essv94051,essv94306,essv97064,essv97380,essv95849,essv97131,essv99600,essv94942,essv99343,essv100572 M 51 11 0 LDLRAD2 21721,21802,21808,21817,21879,21911,22075,22217,22231,22275,22298 nsv460762 1 22141983 22184552 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537273 S 1557 0 1 HSPG2,LDLRAD2 NINDS_70 nsv870552 1 22141983 22321111 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 22142065 22346503 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 esv2745086 1 22144491 22144717 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6877669,essv6946505,essv6780879,essv6925697,essv6669310,essv6967936,essv6898616,essv6836194,essv6793296,essv6710592,essv6797455,essv6892323,essv6725851,essv6916773,essv6821190,essv6703866,essv6972355,essv6668963,essv6889012,essv6950566,essv6883258,essv6784996,essv6921734,essv6937688,essv6824986,essv6954755,essv6722012,essv6766552,essv6832605,essv6868718,essv6801622,essv6895851,essv6776943,essv6876932,essv6880421,essv6961568,essv6689268,essv6829007,essv6810341,essv6692775,essv6679179,essv6816776,essv6885985,essv6789159,essv6816592,essv6718168,essv6699596,essv6853248,essv6863966,essv6871722,essv6843892,essv6729629,essv6807380,essv6686157,essv6682836,essv6847032,essv6929061,essv6707273,essv6804407,essv6675207,essv6902544,essv6941791,essv6859199,essv6696994 M 96 0 64 LDLRAD2 SSM003,SSM005,SSM010,SSM012,SSM013,SSM018,SSM019,SSM020,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM041,SSM042,SSM044,SSM045,SSM046,SSM047,SSM064,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 esv2664487 1 22144620 22144756 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6427698,essv5515161,essv6547190,essv6118955,essv6375748,essv6063273,essv6514968,essv6127139,essv6349296,essv5846205,essv6382854,essv5521110,essv6503183,essv5521912,essv6497044,essv5522103,essv6443639,essv5884391,essv6409497,essv6002941,essv6500637,essv5951996,essv6596088,essv6157633,essv6475674,essv5529705,essv6559122,essv5835985,essv6569200,essv5530904,essv6333877,essv5531112,essv6595397,essv6196676,essv6333154,essv5785611,essv6380043,essv5537636,essv6493029,essv5958339,essv6582790,essv5539425,essv6587349,essv5539606,essv6570590,essv5541664,essv6392558,essv6073616,essv6415318,essv6071679,essv6450043,essv6045705,essv6336842,essv5834489,essv6480583,essv5552132,essv6593140,essv5552690,essv6382450,essv5557685,essv6562556,essv6288777,essv6544245,essv6118787,essv6327908,essv5566179,essv6357064,essv6173365,essv6530458,essv5758414,essv6549287,essv6151997,essv6413396,essv5573001,essv6375682,essv5893040,essv6431938,essv5577251,essv6524274,essv6288270,essv6428412,essv5581896,essv6568991,essv6139268,essv6350220,essv5584999,essv6460904,essv5922526,essv6467664,essv6306721,essv6576428,essv5587297,essv6587821,essv6295787,essv6471879,essv6114158,essv6384583,essv6211866,essv6528663,essv5746286,essv6385838,essv5749863,essv6328312,essv5596129,essv6580642,essv5787777,essv6532326,essv5599191,essv6540652,essv6013591,essv6416184,essv5747739,essv6596931,essv5760628,essv6346196,essv5606801,essv6583668,essv5607056,essv6488245,essv6012939,essv6373184,essv5609052,essv6569207,essv6289010,essv6438738,essv6056170,essv6516735,essv6227723,essv5626652,essv5946087,essv5998740,essv5742433,essv5735588,essv5637597,essv5765305,essv5723708,essv6212721,essv6121538,essv6248667,essv5742428,essv5652469,essv5812534,essv6166929,essv5916010,essv5659892,essv6068524,essv6316318,essv6081596,essv5667831,essv6297209,essv5818318,essv5987368,essv5824865,essv5847292,essv5926157,essv5874233,essv6033036,essv5917845,essv5986375,essv5801820,essv5890406,essv6302661,essv5709665,essv6183028,essv5889312,essv6095728,essv5950482,essv6021259,essv6178109,essv6094797,essv5934340,essv5783186,essv6258070,essv5925758,essv5812876,essv5711944,essv6103325,essv5883391,essv5750169,essv6167739,essv5753746,essv6112138,essv6019442,essv6055969,essv6310524,essv6080981,essv6197026,essv6256492,essv6284746,essv6037767,essv6057458,essv6076284,essv5703713,essv6040105,essv6295984,essv6050969,essv5767492,essv5406138,essv5705735,essv5780001,essv5413446,essv6182884,essv5704739,essv5851199,essv5417191,essv6110824,essv6102078,essv5420760,essv5421452,essv5775589,essv5688133,essv5429884,essv5857805,essv5858728,essv6308569,essv6218807,essv5436720,essv6061678,essv5442825,essv6276302,essv5688874,essv5444447,essv6187772,essv5447344,essv6094538,essv5862862,essv5451542,essv5453306,essv5867948,essv5454011,essv5865727,essv5866166,essv5868066,essv5870454,essv6163628,essv5458541,essv6079480,essv6211088,essv6106954,essv6098904,essv5467344,essv6091728,essv6238759,essv6251048,essv5476312,essv6070942,essv6297264,essv5685700,essv5481177,essv6248398,essv5484559,essv5485444,essv6308299,essv6149947,essv5490276,essv5496262,essv5497098,essv5504001,essv6179935,essv5509074,essv6197518,essv5887577,essv5996612,essv5777678,essv6124286,essv6182224,essv5901197 M 1151 0 267 LDLRAD2 HG00106,HG00108,HG00111,HG00114,HG00125,HG00136,HG00137,HG00138,HG00139,HG00140,HG00154,HG00185,HG00186,HG00187,HG00232,HG00237,HG00239,HG00246,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00259,HG00260,HG00261,HG00263,HG00268,HG00271,HG00272,HG00273,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00309,HG00310,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00330,HG00331,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00344,HG00345,HG00346,HG00369,HG00372,HG00373,HG00375,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00607,HG00608,HG00613,HG00614,HG00619,HG00620,HG00629,HG00635,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG01048,HG01051,HG01052,HG01055,HG01060,HG01061,HG01066,HG01069,HG01070,HG01072,HG01073,HG01079,HG01080,HG01082,HG01083,HG01101,HG01107,HG01108,HG01125,HG01133,HG01136,HG01171,HG01173,HG01174,HG01183,HG01187,HG01188,HG01334,HG01350,HG01351,HG01353,HG01356,HG01365,HG01366,HG01378,HG01383,HG01389,HG01390,HG01437,HG01440,HG01441,HG01488,HG01492,NA11918,NA18530,NA18532,NA18534,NA18536,NA18543,NA18544,NA18546,NA18549,NA18550,NA18557,NA18559,NA18561,NA18562,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18595,NA18597,NA18602,NA18603,NA18605,NA18606,NA18610,NA18611,NA18612,NA18613,NA18620,NA18621,NA18622,NA18623,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18638,NA18923,NA19009,NA19083,NA19087,NA19138,NA19360,NA19371,NA19372,NA19374,NA19376,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19394,NA19395,NA19396,NA19397,NA19398,NA19399,NA19401,NA19403,NA19404,NA19428,NA19457,NA20507,NA20513,NA20768 esv1196174 1 22144648 22144783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606269 S 2 0 1 LDLRAD2 HuRef nsv470706 1 22147077 22328278 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547718,nssv547719 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CELA3A,CELA3B,HSPG2,LDLRAD2 HGDP00546,HGDP00550 nsv871433 1 22158363 22216279 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 22184552 22216279 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537294 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSPG2 HGDP00857 esv1003020 1 22190533 22212334 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 esv2660403 1 22216021 22216245 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6386397,essv6146084,essv6440494,essv6083961,essv6166630,essv6232903 M 1151 0 6 HSPG2 NA18517,NA18907,NA18912,NA19099,NA19382,NA19703 dgv43e1 1 22222521 22412857 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 22235213 22420174 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 22249589 22284495 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537305 S 1557 0 1 HSPG2 NINDS_74 esv2745097 1 22286019 22286565 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961569,essv6769527,essv6710593,essv6946506,essv6916784,essv6703867,essv6780880,essv6668964,essv6950567,essv6910056,essv6917442,essv6921735,essv6972356,essv6937689,essv6824988,essv6954756,essv6722013,essv6876943,essv6689269,essv6829008,essv6892324,essv6692777,essv6853249,essv6843893,essv6941792,essv6847033,essv6929062,essv6902545 M 96 0 28 "" SSM003,SSM012,SSM013,SSM015,SSM017,SSM018,SSM020,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM029,SSM031,SSM036,SSM037,SSM040,SSM042,SSM045,SSM065,SSM068,SSM080,SSM081,SSM085,SSM086,SSM087,SSM098 esv2745108 1 22286320 22286496 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972356,essv6954756,essv6961569,essv6829008,essv6853249 M 96 0 5 "" SSM026,SSM027,SSM029,SSM081,SSM087 esv1468707 1 22286406 22286456 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697282 S 2 0 1 "" HuRef nsv871504 1 22293056 22321111 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511918 S 6533 1 0 CELA3B SP55174 esv2745119 1 22293817 22319550 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6883259,essv6669321,essv6889013,essv6793297,essv6780881,essv6954757,essv6824989,essv6868719,essv6733490,essv6906102,essv6829010,essv6692778,essv6718169,essv6917443 M 96 0 14 CELA3B SSM005,SSM014,SSM017,SSM026,SSM037,SSM044,SSM049,SSM068,SSM071,SSM080,SSM081,SSM090,SSM095,SSM097 esv24116 1 22293885 22342339 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9848,esv12969 M 451 0 3 CELA3A,CELA3B NA18861,NA18907,NA19257 nsv436921 1 22300173 22317969 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465918 S 2 1 0 Samples from several populations that are part of the HapMap project. CELA3B NA18505 esv2672264 1 22303664 22328299 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5760176,essv5960075,essv6205107 M 1151 0 3 CELA3A,CELA3B HG00254,HG00360,HG01137 dgv21e201 1 22307055 22332298 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2741931,esv2741303,esv2741534,esv2745130 M 96 0 83 CELA3A,CELA3B SSM002,SSM004,SSM006,SSM007,SSM008,SSM009,SSM011,SSM012,SSM013,SSM014,SSM015,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM028,SSM029,SSM031,SSM032,SSM033,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM047,SSM049,SSM050,SSM053,SSM055,SSM056,SSM057,SSM058,SSM061,SSM062,SSM063,SSM064,SSM065,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM079,SSM080,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM095,SSM097,SSM098,SSM099,SSM100 esv7729 1 22307730 22332363 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30170 S 1 0 1 CELA3A,CELA3B SJK nsv9657 1 22309526 22343331 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12446,nssv18083 M 31 0 2 Samples from several populations that are part of the HapMap project. CELA3A,CELA3B NA18972,NA19007 dgv27n67 1 22316058 22344104 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821954,nsv821965 M 31 0 2 CELA3A NA18570,NA18972 nsv441686 1 22320511 22337243 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CELA3A esv2422105 1 22320515 22330539 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip 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 22328279 22389327 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705302 S 2026 1 0 CDC42,CELA3A,LINC00339 nsv871778 1 22357217 22491984 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 22416299 22450404 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2871 S 9 1 0 CDC42,WNT4 NA18555 nsv460806 1 22451845 22512847 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537310 S 1557 0 1 WNT4 1780862415_A esv2745142 1 22489138 22489468 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836196 S 96 0 1 "" SSM083 nsv517086 1 22499530 22512847 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 "" esv2660559 1 22499758 22509304 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6523562,essv6041697,essv6576953,essv5953832,essv6527379,essv5846146,essv6095506,essv5680234,essv6101350 M 1151 0 9 "" NA18868,NA19107,NA19247,NA19379,NA19438,NA19451,NA19466,NA19713,NA20341 esv2421859 1 22500228 22509251 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip 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 22525718 22527154 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282711 S 1 0 1 "" NA18507 nsv871529 1 22533608 22598057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530427 S 6533 0 1 "" MS10311 nsv522370 1 22555993 22591456 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695150 S 2026 0 1 "" dgv195n71 1 22565371 22616978 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871707,nsv871660 M 6533 0 2 "" MS13770,MS20042 nsv516575 1 22588993 22598057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674738,nssv669268 M 2026 0 2 "" nsv522775 1 22600073 22600167 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698416 S 2026 0 1 "" nsv159512 1 22600080 22608663 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178090 M 24 "" nsv528939 1 22600167 22607557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705630 S 2026 0 1 "" esv2664761 1 22663050 22663480 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6514594,essv6211764,essv6444537,essv5824704,essv6337821,essv6086581,essv6372588,essv6161287,essv6498522,essv5733079,essv6451909,essv5570643,essv6515456,essv5816793,essv6575470,essv5572991,essv6339749,essv5953093,essv6497491,essv5584071,essv6388912,essv5585949,essv6513426,essv6275562,essv6478052,essv6216525,essv6432450,essv5592925,essv6390041,essv5595165,essv6365276,essv6098269,essv6467245,essv5901228,essv6566278,essv5748532,essv6441486,essv5786403,essv6373556,essv6136204,essv6467226,essv5622147,essv6538955,essv6261598,essv6403031,essv5634814,essv6546398,essv6133020,essv6400127,essv5645050,essv6362584,essv6210141,essv6571297,essv6326345,essv6490824,essv5807392,essv5714743,essv6031111,essv6247706,essv5702061,essv6138184,essv5714656,essv6012231,essv5752874,essv6137330,essv6215201,essv6086524,essv5990471,essv5751738,essv6307811,essv6038895,essv6037503,essv5398429,essv5698635,essv5700474,essv5401565,essv5408301,essv5423164,essv5852863,essv5860970,essv5775398,essv6215773,essv5454383,essv5687159,essv6300826,essv5870312,essv6242495,essv6173569,essv5469925,essv5883416,essv6086235,essv5997201,essv5983075,essv5481127,essv6113903 M 1151 0 95 "" HG00118,HG00122,HG00124,HG00127,HG00179,HG00181,HG00185,HG00246,HG00275,HG00306,HG00336,HG00338,HG00345,HG00368,HG00369,HG00404,HG00554,HG00595,HG00607,HG00650,HG00651,HG00699,HG00702,HG00704,HG00707,HG00734,HG01066,HG01101,HG01111,HG01124,HG01134,HG01251,HG01253,HG01254,HG01353,HG01378,HG01440,HG01461,HG01497,NA18908,NA18917,NA18945,NA18963,NA18988,NA19000,NA19004,NA19012,NA19072,NA19081,NA19102,NA19198,NA19312,NA19313,NA19319,NA19321,NA19324,NA19327,NA19331,NA19334,NA19355,NA19372,NA19376,NA19381,NA19395,NA19404,NA19443,NA19445,NA19446,NA19451,NA19457,NA19467,NA19474,NA19664,NA19670,NA19716,NA19731,NA19755,NA19773,NA19776,NA19780,NA19782,NA19785,NA19901,NA20126,NA20278,NA20289,NA20299,NA20332,NA20336,NA20348,NA20356,NA20528,NA20581,NA20769,NA20778 nsv520015 1 22675221 22683030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697178 S 2026 0 1 "" nsv159392 1 22679557 22679695 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177970 M 24 "" nsv6187 1 22715564 22735921 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3965 S 9 0 1 "" NA12878 esv2745153 1 22768651 22769492 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6666906,essv6933315 M 96 0 2 "" SSM021,SSM030 nsv6298 1 22832508 22877564 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8765 S 9 0 1 ZBTB40 NA12156 nsv506921 1 22834549 22840549 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619226,nssv620646,nssv623263 M 4 3 0 ZBTB40 NA10860,NA15510,NA18994 nsv819803 1 22855681 22855985 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 22863483 22908236 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619780 S 4 1 0 EPHA8 NA10860 nsv871044 1 22863993 23016006 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 esv2666301 1 22868673 22871033 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5771984 S 1151 0 1 "" NA19712 nsv870779 1 22877813 22933053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530428 S 6533 0 1 EPHA8 MS10311 esv2663187 1 22886488 22888331 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6533054,essv5967653 M 1151 0 2 "" NA18853,NA18858 esv27002 1 22886525 22888263 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17180 S 451 0 1 "" NA18858 esv26050 1 22889175 22891179 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12203,esv13267 M 451 3 0 EPHA8 NA06985,NA12044,NA18861 esv259650 1 22896824 22897119 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 22896841 22897136 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 22901386 22906644 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 22904316 22904674 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26018 S 1 0 1 Single Asian sample YH EPHA8 YH dgv28e199 1 22904316 22905637 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2672696,esv2661077,esv2663353 M 1151 0 128 EPHA8 HG00100,HG00120,HG00141,HG00142,HG00160,HG00178,HG00190,HG00264,HG00267,HG00311,HG00320,HG00324,HG00335,HG00343,HG00366,HG00421,HG00524,HG00553,HG00578,HG00620,HG00650,HG00732,HG00740,HG01047,HG01048,HG01055,HG01097,HG01133,HG01134,HG01136,HG01171,HG01359,HG01440,HG01498,NA07051,NA11830,NA11843,NA11892,NA12058,NA12275,NA12400,NA12718,NA12777,NA18488,NA18507,NA18520,NA18522,NA18543,NA18553,NA18562,NA18564,NA18577,NA18582,NA18619,NA18873,NA18917,NA18924,NA18963,NA18982,NA18988,NA18990,NA19003,NA19004,NA19072,NA19082,NA19083,NA19084,NA19092,NA19116,NA19130,NA19189,NA19198,NA19313,NA19350,NA19393,NA19445,NA19446,NA19448,NA19455,NA19457,NA19461,NA19466,NA19471,NA19472,NA19648,NA19654,NA19658,NA19678,NA19679,NA19681,NA19682,NA19685,NA19704,NA19717,NA19728,NA19780,NA19788,NA19818,NA19835,NA19900,NA19908,NA20334,NA20506,NA20522,NA20527,NA20541,NA20542,NA20581,NA20582,NA20755,NA20757,NA20759,NA20760,NA20761,NA20766,NA20769,NA20775,NA20783,NA20787,NA20792,NA20796,NA20798,NA20799,NA20800,NA20805,NA20807,NA20809,NA20810 nsv820259 1 22904399 22904495 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 22904487 22904487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714244 S 2 1 0 EPHA8 HuRef nsv160591 1 22904488 22905585 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179169 M 24 EPHA8 esv2677455 1 22904970 22905856 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5544672,essv6539725,essv5585472,essv5884612,essv5677500,essv6597139,essv6002413,essv6505499,essv6029810,essv6260214,essv6216357,essv5706718,essv5799989,essv6035399,essv6322859,essv5860170,essv5433105,essv6265105,essv6435834,essv5446269,essv6451817,essv5867279,essv5708481,essv6233400,essv6200664 M 1151 0 25 EPHA8 HG00336,HG00380,HG01489,NA11919,NA12347,NA12413,NA12546,NA12827,NA19256,NA19376,NA19377,NA19383,NA19446,NA19448,NA19701,NA19703,NA19776,NA19834,NA19835,NA19900,NA20765,NA20772,NA20801,NA20802,NA20812 esv2745164 1 22905160 22905934 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6797457,essv6750612,essv6972358,essv6668967,essv6816787,essv6876976,essv6829011,essv6843896,essv6859201 M 96 0 9 EPHA8 SSM010,SSM012,SSM029,SSM031,SSM057,SSM072,SSM081,SSM085,SSM088 esv4502 1 22905411 22905658 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26943 S 1 0 1 Single Asian sample YH EPHA8 YH esv2745175 1 22905462 22905574 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972358,essv6668967,essv6859201 M 96 0 3 EPHA8 SSM029,SSM031,SSM088 esv2745186 1 22925846 22926478 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6750613,essv6910058,essv6801624,essv6972359,essv6853251,essv6892326,essv6843897,essv6748475,essv6885987,essv6859202 M 96 0 10 EPHA8 SSM008,SSM015,SSM029,SSM057,SSM073,SSM085,SSM087,SSM088,SSM096,SSM098 esv2745197 1 22926039 22926197 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6853251,essv6859202,essv6885987 M 96 0 3 EPHA8 SSM087,SSM088,SSM096 esv2745208 1 22926129 22926582 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6722015,essv6853251 M 96 0 2 EPHA8 SSM045,SSM087 esv2745219 1 22926132 22926194 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6853251 S 96 0 1 EPHA8 SSM087 esv34161 1 22926255 23144223 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684 esv2745230 1 22984908 22985711 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6967938,essv6941794,essv6972360,essv6839982,essv6961570 M 96 0 5 C1QB SSM023,SSM027,SSM028,SSM029,SSM084 esv2742989 1 22985334 22986057 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6933316 S 96 0 1 C1QB SSM021 esv2745241 1 22985395 22985481 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961570 S 96 0 1 C1QB SSM027 esv2745253 1 22985647 22985981 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668968,essv6880423 M 96 0 2 C1QB SSM031,SSM094 esv2745264 1 22985731 22985878 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6880423 S 96 0 1 C1QB SSM094 esv1510090 1 22985821 22985883 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329170 S 2 0 1 C1QB HuRef nsv870805 1 23057190 23123589 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 23080863 23081608 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338263 S 1 1 0 EPHB2 NA18507 nsv512725 1 23081288 23081518 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625350 S 1 1 0 EPHB2 1 nsv469829 1 23082022 23263410 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 23098982 23169503 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 23106213 23142496 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 23106632 23185991 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619781 S 4 1 0 EPHB2 NA10860 esv1389294 1 23130139 23130189 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987352 S 2 0 1 EPHB2 HuRef nsv528926 1 23189123 23206684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705616 S 2026 0 1 EPHB2,MIR4253 nsv6409 1 23224798 23256651 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1954 S 9 1 0 EPHB2 NA18555 esv2504682 1 23276463 23277392 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188949 S 1 1 0 "" NA18507 esv1485438 1 23276947 23276947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125835 S 2 1 0 "" HuRef nsv819213 1 23311390 23338973 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 23372771 23403148 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 23404369 23423046 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5396 S 9 1 0 KDM1A,LUZP1 NA19129 esv2745275 1 23434084 23437516 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6829012 S 96 0 1 LUZP1 SSM081 nsv819728 1 23444732 23449173 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 23459404 23602702 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444051 S 95 0 1 HTR1D,LUZP1 esv2657917 1 23475241 23480097 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5401802,essv6296524,essv6554828,essv6335031 M 1151 0 4 LUZP1 HG00171,HG00266,HG00284,HG00375 nsv871587 1 23486977 23510850 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 23494701 23496410 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429554 S 31 1 0 LUZP1 AK14 nsv6631 1 23593894 23612773 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3974,nssv9804,nssv6423,nssv10760,nssv5405,nssv964,nssv1966 M 9 7 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 esv2673893 1 23595429 23595912 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6595907 S 1151 0 1 "" NA19102 esv2678093 1 23596104 23597377 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5575699,essv5651735 M 1151 0 2 "" HG00442,HG00692 nsv509047 1 23597965 23616571 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 23603136 23604264 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 esv2673750 1 23677121 23680537 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5855109 S 1151 0 1 "" NA19921 nsv525446 1 23696152 23701312 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701574 S 2026 1 0 C1orf213,ZNF436 nsv521882 1 23710475 23714665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694653 S 2026 0 1 TCEA3 esv2745286 1 23718590 23719359 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6769529,essv6710595,essv6793300,essv6773445,essv6950570,essv6954759,essv6784999,essv6689271,essv6839983,essv6679182,essv6729632,essv6707275,essv6686159,essv6902547,essv6714253 M 96 0 15 TCEA3 SSM013,SSM025,SSM026,SSM033,SSM035,SSM036,SSM041,SSM042,SSM043,SSM047,SSM065,SSM066,SSM069,SSM071,SSM084 nsv512726 1 23718769 23719127 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625351 S 1 1 0 TCEA3 1 esv2558689 1 23718859 23719060 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285756 S 1 0 1 TCEA3 NA18507 esv9540 1 23718954 23719135 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31981 S 1 0 1 TCEA3 SJK esv2745297 1 23736126 23737866 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874717,essv6710596,essv6744945,essv6733492,essv6789161,essv6950307,essv6871724,essv6764171,essv6718998 M 96 0 9 TCEA3 SSM004,SSM007,SSM042,SSM049,SSM055,SSM063,SSM070,SSM091,SSM092 esv2661255 1 23736151 23737760 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6199177,essv5518126,essv6342006,essv5790002,essv6328250,essv5543867,essv6358225,essv5544839,essv6307122,essv5561803,essv6226673,essv6030979,essv6293220,essv5568567,essv6570160,essv5575981,essv6294880,essv5586828,essv6234199,essv5744840,essv6266818,essv6059235,essv6396350,essv6018205,essv6357101,essv5881841,essv6500360,essv5806711,essv6264187,essv6038526,essv6354537,essv6037789,essv5810948,essv5702593,essv5850968,essv5458396,essv6008967,essv5480655,essv5491669,essv5805488 M 1151 0 40 TCEA3 HG00403,HG00442,HG00449,HG00478,HG00500,HG00557,HG00584,HG00593,HG00595,HG00607,HG00613,HG00614,HG00619,HG00628,HG00635,HG00657,HG00662,HG00683,HG00684,HG00699,HG00701,HG00708,NA18544,NA18546,NA18550,NA18560,NA18612,NA18631,NA18632,NA18634,NA18635,NA18637,NA18940,NA18977,NA18999,NA19012,NA19070,NA19074,NA19075,NA19082 dgv28n67 1 23736482 23737751 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821987,nsv821998 M 31 0 7 TCEA3 AK16,AK18,AK4,NA18547,NA18582,NA18592,NA18999 nsv834435 1 23799462 23977931 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444062,nssv1444074 M 95 0 2 ASAP3,E2F2,ID3,MDS2 nsv819574 1 23809640 23811315 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 23821744 23821744 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794850 S 2 1 0 "" HuRef esv2745308 1 23858109 23858592 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6916795 S 96 0 1 "" SSM003 esv2659031 1 23867341 23875011 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5618619 S 1151 0 1 "" HG00536 nsv871598 1 23875640 23895154 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 23891060 23895251 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178873 M 24 "" nsv460840 1 23937261 23988361 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537340 S 1557 0 1 MDS2 1780862162_A esv275297 1 23957771 23960856 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585424 S 1250 0 1 MDS2 esv267772 1 23981100 23981442 CNV Insertion 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 23981107 23981439 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 24003478 24006906 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178658 M 24 "" dgv29e199 1 24091454 24099936 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2658633,esv2663043 M 1151 0 15 LOC100506963 NA19350,NA19383,NA19393,NA19430,NA19431,NA19436,NA19438,NA19440,NA19443,NA19446,NA19448,NA19452,NA19468,NA19469,NA19470 esv2671952 1 24106738 24108455 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5775421 S 1151 0 1 PITHD1 NA19466 esv2665549 1 24161807 24166325 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6477099,essv5589265,essv6219908 M 1151 0 3 "" HG00448,HG00614,HG00663 esv2745319 1 24161877 24166110 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6729633 S 96 0 1 "" SSM047 esv1587089 1 24163918 24163918 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060701 S 2 1 0 "" HuRef esv2745330 1 24172353 24172545 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6829013 S 96 0 1 FUCA1 SSM081 esv2742159 1 24172353 24175102 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6829014 S 96 0 1 FUCA1 SSM081 esv2745341 1 24175320 24180805 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6829015 S 96 0 1 FUCA1 SSM081 esv2745352 1 24181094 24189598 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6829016 S 96 0 1 FUCA1 SSM081 esv2745364 1 24186432 24191938 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6829017 S 96 0 1 FUCA1 SSM081 esv2745375 1 24189799 24194373 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6829018,essv6829019 M 96 0 1 FUCA1 SSM081 esv29329 1 24200146 24201391 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12811,esv15695 M 451 0 15 CNR2 NA11894,NA11931,NA11993,NA12004,NA12749,NA12878,NA18505,NA18511,NA18517,NA18861,NA18907,NA18909,NA19147,NA19190,NA19225 dgv29n67 1 24200462 24201312 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822020,nsv822043,nsv822032,nsv822009 M 31 0 5 CNR2 AK2,AK6,NA18947,NA18951,NA18972 esv991485 1 24208737 24214884 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 24210363 24210844 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625352 S 1 1 0 CNR2 1 esv1663042 1 24210836 24210836 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228988 S 2 1 0 CNR2 HuRef esv2672735 1 24223616 24224201 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6123658,essv5527943,essv6247228,essv5537794,essv5538620,essv5641765,essv5783832,essv5406869,essv6338724,essv5478506,essv5499108,essv6346688,essv6211625 M 1151 0 13 CNR2 HG00418,HG00437,HG00543,HG00559,HG00596,HG00634,HG00654,HG00698,NA18599,NA18606,NA18963,NA19000,NA19083 esv2745386 1 24223618 24224160 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6946509 S 96 0 1 CNR2 SSM024 nsv6742 1 24253913 24287381 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2882 S 9 1 0 MIR378F,PNRC2 NA18555 esv2676255 1 24256545 24319892 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6133992,essv5523576,essv5535735,essv5837996,essv5543571,essv5553999,essv5556143,essv5568989,essv6502255,essv6205556,essv5815793,essv5589908,essv5935079,essv5776834,essv6470712,essv6223000,essv5632388,essv5741543,essv5640877,essv5641327,essv6032725,essv6008683,essv5652043,essv5657971,essv6174404,essv5826734,essv6471479,essv6530819,essv6065453,essv6029480,essv5846032,essv5834335,essv6267797,essv5696689,essv6038427,essv6150791,essv6419179,essv5775587,essv5420473,essv6329332,essv5854710,essv6407576,essv5458279,essv5460111,essv6223248,essv5685776,essv6285848,essv5468498,essv6263821,essv5491374,essv6541778,essv5502878,essv5839876 M 1151 0 53 PNRC2,SRSF10 HG00553,HG00554,HG00637,HG00638,HG00640,HG00641,HG00731,HG00732,HG00734,HG00736,HG00737,HG00740,HG01047,HG01048,HG01051,HG01052,HG01055,HG01060,HG01061,HG01066,HG01067,HG01069,HG01070,HG01072,HG01073,HG01075,HG01079,HG01080,HG01082,HG01083,HG01095,HG01097,HG01098,HG01101,HG01102,HG01107,HG01108,HG01167,HG01168,HG01170,HG01171,HG01173,HG01174,HG01176,HG01182,HG01183,HG01187,HG01188,HG01190,HG01191,HG01197,HG01198,HG01204 esv2662136 1 24256545 24362092 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6527098,essv5517465,essv6050165,essv6022055,essv5767080,essv5503809 M 1151 0 6 PNRC2,SRSF10 HG01515,HG01516,HG01518,HG01519,HG01521,HG01522 nsv511683 1 24318869 24322191 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626322 S 1 0 1 "" 1 esv2664644 1 24320745 24363092 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6338953,essv5536010,essv6344657,essv5823947,essv6439575,essv5741434,essv6476962,essv6113943,essv6495667,essv5557158,essv6573974,essv6064513,essv6404520,essv6014316,essv6595708,essv5586584,essv6451010,essv6013408,essv6568064,essv5600832,essv6453339,essv5606643,essv6503308,essv5897276,essv6522409,essv6135323,essv6570082,essv6058151,essv6461631,essv6210221,essv6397744,essv5925653,essv5923798,essv5940786,essv5789365,essv6297184,essv5976176,essv5754038,essv6127531,essv5897000,essv6235489,essv6024427,essv6194609,essv6038186,essv5700305,essv5406255,essv5805601,essv6245513,essv5477683,essv5964709,essv5499575,essv6132678,essv5512455 M 1151 0 53 "" HG00553,HG00554,HG00637,HG00638,HG00640,HG00641,HG00731,HG00732,HG00734,HG00736,HG00737,HG00740,HG01047,HG01048,HG01051,HG01052,HG01055,HG01060,HG01061,HG01066,HG01067,HG01069,HG01070,HG01072,HG01073,HG01075,HG01079,HG01080,HG01082,HG01083,HG01095,HG01097,HG01098,HG01101,HG01102,HG01107,HG01108,HG01167,HG01168,HG01170,HG01171,HG01173,HG01174,HG01176,HG01182,HG01183,HG01187,HG01188,HG01190,HG01191,HG01197,HG01198,HG01204 esv270413 1 24328737 24328822 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 esv2745397 1 24341681 24342623 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6950571,essv6668969,essv6766555,essv6750614,essv6703869,essv6733493,essv6972362,essv6843909,essv6789162,essv6748487,essv6847035,essv6961571,essv6742150 M 96 0 13 "" SSM008,SSM011,SSM025,SSM027,SSM029,SSM031,SSM040,SSM049,SSM053,SSM057,SSM064,SSM070,SSM086 esv2745408 1 24342014 24342386 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6950571,essv6668969,essv6703869,essv6972362,essv6766555,essv6843909,essv6789162,essv6961571,essv6847035 M 96 0 9 "" SSM011,SSM025,SSM027,SSM029,SSM031,SSM040,SSM064,SSM070,SSM086 esv2745419 1 24342079 24342253 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6950571,essv6668969,essv6703869,essv6972362,essv6843909,essv6961571,essv6847035 M 96 0 7 "" SSM011,SSM025,SSM027,SSM029,SSM031,SSM040,SSM086 esv2674928 1 24367369 24367790 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6551327,essv6371620,essv6250066,essv6150592,essv6028652,essv5776849,essv6086473,essv5607650,essv6414442,essv6447787,essv5966423,essv5873139,essv6120722,essv5708663,essv5932308 M 1151 0 15 "" HG01069,HG01365,NA18501,NA18868,NA19093,NA19114,NA19190,NA19318,NA19360,NA19398,NA19430,NA19453,NA19703,NA19711,NA19985 esv2609872 1 24402453 24404236 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352209 S 1 0 1 MYOM3 NA18507 esv1968924 1 24402803 24403489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552184 S 1 0 1 MYOM3 NA18507 esv2745430 1 24402938 24403305 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6793301,essv6925699,essv6832607,essv6972363,essv6766556,essv6810344,essv6892327,essv6871725,essv6748498,essv6961572,essv6885988 M 96 0 11 MYOM3 SSM008,SSM019,SSM027,SSM029,SSM064,SSM071,SSM076,SSM082,SSM091,SSM096,SSM098 esv989974 1 24402987 24403303 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 24403003 24403320 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762899 S 2 0 1 MYOM3 HuRef esv5851 1 24403012 24403304 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28292 S 1 0 1 MYOM3 SJK nsv822054 1 24408340 24408971 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431798 S 31 0 1 MYOM3 AK20 nsv506922 1 24474568 24480568 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619227,nssv623264,nssv617526,nssv620647 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv506923 1 24491646 24497646 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619228,nssv620649,nssv623265,nssv617527 M 4 4 0 IL28RA CHM,NA10860,NA15510,NA18994 nsv6853 1 24492113 24526221 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8821 S 9 1 0 IL28RA NA12156 esv2745441 1 24520318 24523689 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6761868,essv6784743,essv6747792,essv6967939,essv6759057,essv6738817,essv6710597,essv6797458,essv6821192,essv6725853,essv6916806,essv6666907,essv6883261,essv6950572,essv6950318,essv6793302,essv6925700,essv6785000,essv6750615,essv6877671,essv6766557,essv6876987,essv6816798,essv6689272,essv6880424,essv6839984,essv6695743,essv6753506,essv6871726,essv6933318,essv6829021,essv6843920,essv6843899,essv6789163,essv6917445,essv6699600,essv6718171,essv6816595,essv6941796,essv6863968,essv6748509,essv6929065,essv6961574,essv6847036,essv6742151,essv6714255,essv6902548,essv6885989,essv6719009,essv6696996 M 96 0 50 "" SSM003,SSM004,SSM006,SSM007,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM017,SSM019,SSM020,SSM021,SSM023,SSM025,SSM027,SSM028,SSM030,SSM036,SSM038,SSM039,SSM042,SSM043,SSM044,SSM046,SSM052,SSM053,SSM056,SSM057,SSM058,SSM061,SSM062,SSM064,SSM069,SSM070,SSM071,SSM072,SSM078,SSM079,SSM081,SSM084,SSM085,SSM086,SSM089,SSM091,SSM093,SSM094,SSM095,SSM096 esv29789 1 24520344 24523704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14913 S 451 0 7 "" NA07037,NA07045,NA11993,NA12004,NA12044,NA12414,NA12749 dgv30e199 1 24520347 24523686 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2666896,esv2672510 M 1151 0 248 "" HG00116,HG00117,HG00120,HG00126,HG00131,HG00138,HG00140,HG00141,HG00146,HG00159,HG00160,HG00173,HG00174,HG00178,HG00182,HG00231,HG00244,HG00245,HG00246,HG00250,HG00252,HG00267,HG00269,HG00271,HG00272,HG00276,HG00280,HG00284,HG00310,HG00323,HG00326,HG00329,HG00331,HG00357,HG00373,HG00377,HG00418,HG00419,HG00422,HG00428,HG00437,HG00442,HG00448,HG00463,HG00472,HG00473,HG00513,HG00530,HG00557,HG00559,HG00565,HG00578,HG00580,HG00581,HG00583,HG00589,HG00592,HG00595,HG00596,HG00607,HG00610,HG00611,HG00613,HG00614,HG00620,HG00625,HG00629,HG00634,HG00635,HG00651,HG00656,HG00657,HG00662,HG00671,HG00684,HG00690,HG00693,HG00702,HG00704,HG00708,HG00737,HG01048,HG01055,HG01060,HG01067,HG01075,HG01125,HG01134,HG01136,HG01197,HG01359,HG01365,HG01374,HG01384,HG01461,NA07037,NA11881,NA11893,NA11993,NA11995,NA12004,NA12044,NA12249,NA12283,NA12286,NA12399,NA12414,NA12546,NA12716,NA12748,NA12749,NA12751,NA12761,NA12775,NA12829,NA18522,NA18532,NA18542,NA18544,NA18546,NA18547,NA18550,NA18557,NA18559,NA18561,NA18562,NA18563,NA18565,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18609,NA18611,NA18612,NA18614,NA18617,NA18619,NA18620,NA18623,NA18626,NA18630,NA18631,NA18632,NA18633,NA18634,NA18638,NA18856,NA18941,NA18942,NA18945,NA18951,NA18961,NA18963,NA18965,NA18973,NA18977,NA18982,NA18985,NA18988,NA19002,NA19005,NA19012,NA19055,NA19060,NA19064,NA19065,NA19066,NA19067,NA19068,NA19076,NA19079,NA19080,NA19085,NA19087,NA19116,NA19130,NA19197,NA19213,NA19311,NA19313,NA19316,NA19334,NA19360,NA19375,NA19429,NA19438,NA19449,NA19457,NA19462,NA19468,NA19648,NA19651,NA19654,NA19658,NA19660,NA19663,NA19679,NA19684,NA19716,NA19725,NA19726,NA19762,NA19773,NA19776,NA19779,NA20276,NA20278,NA20289,NA20296,NA20341,NA20342,NA20506,NA20510,NA20512,NA20517,NA20531,NA20537,NA20540,NA20542,NA20544,NA20581,NA20582,NA20585,NA20588,NA20755,NA20760,NA20765,NA20773,NA20774,NA20775,NA20778,NA20785,NA20787,NA20792,NA20799,NA20800,NA20802,NA20806,NA20810,NA20818,NA20819 dgv30n67 1 24520813 24523406 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 24527095 24678272 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871102,nsv871580 M 6533 2 0 GRHL3,LOC284632 MS23257,SP55010 esv2745452 1 24538078 24539158 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6967940,essv6950574,essv6668970,essv6785001,essv6954760,essv6780883,essv6972364,essv6961575 M 96 0 8 LOC284632 SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM068,SSM069 esv2745463 1 24538470 24538584 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6954760,essv6668970 M 96 0 2 "" SSM026,SSM031 esv2745475 1 24538548 24539158 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6780883,essv6692780,essv6785001 M 96 0 3 "" SSM037,SSM068,SSM069 nsv822098 1 24555999 24556787 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434162 S 31 0 1 "" NA18570 dgv197n71 1 24575345 24640314 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871048,nsv871751 M 6533 2 0 "" SP52428,SP55100 nsv469575 1 24579697 24776396 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 24592383 24592762 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922131 S 1 0 1 "" NA18507 nsv834447 1 24649583 24805208 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444085 S 95 0 1 C1orf201,GRHL3,NIPAL3 esv2745486 1 24652964 24653554 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972365 S 96 0 1 GRHL3 SSM029 esv2745497 1 24671380 24671726 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6725855,essv6793303,essv6699601 M 96 0 3 GRHL3 SSM039,SSM046,SSM071 esv1739869 1 24671563 24671563 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074743 S 2 1 0 GRHL3 HuRef esv1745617 1 24671765 24671765 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185921 S 2 1 0 GRHL3 HuRef esv994910 1 24774896 24778511 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 esv2675642 1 24787797 24788122 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5546110,essv5995185,essv6102526,essv6049949,essv6292877,essv6125001 M 1151 0 6 NIPAL3 NA18867,NA18870,NA19129,NA19707,NA20294,NA20322 nsv6965 1 24794996 24815142 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1967 S 9 0 1 NIPAL3 NA18555 esv2670447 1 24804145 24809692 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6513308,essv6266555,essv5725222,essv5977901,essv6451545,essv5641460,essv6431983,essv6322013,essv5782178,essv6038566,essv5438808,essv6461066,essv6574503,essv5911074,essv5499710 M 1151 0 15 "" HG00403,HG00422,HG00428,HG00443,HG00472,HG00536,HG00583,HG00596,HG00610,HG00613,HG00625,HG00628,HG00657,HG00662,HG00704 esv23193 1 24804297 24807640 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9733,esv19100 M 451 0 4 "" NA11931,NA11993,NA12489,NA12749 esv2745508 1 24804527 24807508 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874718,essv6769530,essv6821193,essv6744946,essv6695754 M 96 0 5 "" SSM006,SSM055,SSM065,SSM079,SSM092 esv2670985 1 24804536 24807440 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5721262,essv5725333,essv5525382,essv6428266,essv5530633,essv5531321,essv5531999,essv5532188,essv5536283,essv6023618,essv5538944,essv6428469,essv5548274,essv5551148,essv6299811,essv6470865,essv6556738,essv5961587,essv5877550,essv5788791,essv6436678,essv6275951,essv5561848,essv6574936,essv5836163,essv6050708,essv5568354,essv5912186,essv6315914,essv5809900,essv5906583,essv5878782,essv6483266,essv5914147,essv6136615,essv6130210,essv5968164,essv6411509,essv6576837,essv6596716,essv6204281,essv6086634,essv5812137,essv6023826,essv6089604,essv6301264,essv6539074,essv5768654,essv5766700,essv6248581,essv6375670,essv5899702,essv6203028,essv5613639,essv6584179,essv6147689,essv5948982,essv5817113,essv5838845,essv6242230,essv5625856,essv6052799,essv6230076,essv6286480,essv6199614,essv6143711,essv6595541,essv6590748,essv6387008,essv6076186,essv5974962,essv6528259,essv5937699,essv5648622,essv6380878,essv5676327,essv5662170,essv6118937,essv6459993,essv6124308,essv5767065,essv6249655,essv5677268,essv6060329,essv6003210,essv5944543,essv6134882,essv5889410,essv5938733,essv5706652,essv5719976,essv5668897,essv6075146,essv6286316,essv6062247,essv5811807,essv6359428,essv6413073,essv5702489,essv6519849,essv5801792,essv6414568,essv6230216,essv6039526,essv6038544,essv5844997,essv6297211,essv6332341,essv6167767,essv6170420,essv6476858,essv6432220,essv5785035,essv5701823,essv6422152,essv6117357,essv6171268,essv6243194,essv5419749,essv5420719,essv5850053,essv6175661,essv5855936,essv5861254,essv5692325,essv5862120,essv6387214,essv5863364,essv6348073,essv5863230,essv6403161,essv6468491,essv5686445,essv5469076,essv5469783,essv6002457,essv6043918,essv6182738,essv5683875,essv6367232,essv6424986,essv6545275,essv6511706,essv5486001,essv5487086,essv6094043,essv6149973,essv6057512,essv5494686,essv5981797,essv6222302,essv6423320,essv5500312,essv5501005,essv6190534,essv5507348,essv6069134,essv5512001 M 1151 0 158 "" HG00112,HG00117,HG00119,HG00123,HG00127,HG00148,HG00159,HG00160,HG00173,HG00178,HG00231,HG00239,HG00244,HG00256,HG00261,HG00276,HG00306,HG00309,HG00310,HG00311,HG00320,HG00328,HG00330,HG00334,HG00339,HG00372,HG00422,HG00428,HG00443,HG00472,HG00534,HG00536,HG00559,HG00583,HG00613,HG00625,HG00637,HG00640,HG00641,HG00657,HG00662,HG00672,HG00701,HG00704,HG00705,HG01061,HG01069,HG01075,HG01102,HG01124,HG01136,HG01167,HG01176,HG01342,HG01366,HG01374,HG01375,HG01377,HG01437,NA06984,NA11933,NA12272,NA12348,NA12383,NA12399,NA12718,NA12748,NA12842,NA18486,NA18536,NA18543,NA18544,NA18546,NA18561,NA18565,NA18574,NA18576,NA18582,NA18597,NA18602,NA18617,NA18618,NA18619,NA18623,NA18626,NA18631,NA18633,NA18638,NA18868,NA18874,NA18910,NA18924,NA18956,NA18960,NA18961,NA18977,NA18982,NA18985,NA18988,NA18989,NA19010,NA19054,NA19058,NA19060,NA19065,NA19082,NA19189,NA19247,NA19315,NA19318,NA19332,NA19347,NA19377,NA19379,NA19380,NA19393,NA19394,NA19398,NA19403,NA19429,NA19434,NA19444,NA19452,NA19461,NA19462,NA19471,NA19473,NA19655,NA19660,NA19661,NA19663,NA19675,NA19679,NA19681,NA19684,NA19685,NA19701,NA19703,NA19711,NA19720,NA19759,NA19785,NA19904,NA19909,NA19920,NA19921,NA20281,NA20314,NA20512,NA20521,NA20533,NA20761,NA20770,NA20787,NA20798,NA20799,NA20808,NA20815 nsv498665 1 24804536 24807450 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585415 S 9 0 1 "" nsv822109 1 24805694 24806860 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431800 S 31 0 1 "" AK20 dgv31n67 1 24805694 24807922 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822120,nsv822131 M 31 0 6 "" AK16,NA18537,NA18547,NA18582,NA18949,NA18969 nsv513983 1 24805893 24806705 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627736 S 1414 0 1 "" esv1298380 1 24821569 24821569 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759955 S 2 1 0 "" HuRef nsv436645 1 24895458 24902243 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465929 S 2 0 1 Samples from several populations that are part of the HapMap project. C1orf130 NA18505 dgv31e199 1 24895660 24900868 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2676241,esv2675930 M 1151 0 32 C1orf130 HG01390,NA18486,NA18487,NA18498,NA18505,NA18508,NA18511,NA18522,NA18853,NA18874,NA18910,NA18912,NA18924,NA18933,NA19098,NA19152,NA19172,NA19204,NA19207,NA19210,NA19235,NA19311,NA19313,NA19331,NA19395,NA19436,NA19449,NA19466,NA19654,NA19704,NA19711,NA19834 esv27046 1 24895796 24901144 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13814 S 451 0 3 C1orf130 NA18505,NA18508,NA18511 nsv834458 1 24904319 24996135 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444096 S 95 0 1 C1orf130,SRRM1 esv1961948 1 24928605 24929273 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674738 S 1 0 1 C1orf130 NA18507 esv2665308 1 24928795 24929081 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6526222,essv5939585,essv6355607,essv5528341,essv6358573,essv5816663,essv6432556,essv5746116,essv6387852,essv5569192,essv6465990,essv6077142,essv6433569,essv5593183,essv6421404,essv6240158,essv6408206,essv5604401,essv6494969,essv5604757,essv6447770,essv5969827,essv6387071,essv5634883,essv6500505,essv5765750,essv6496607,essv6188318,essv6013804,essv5912861,essv5722616,essv5756969,essv6199634,essv5712599,essv5734067,essv5984778,essv5972078,essv5705755,essv6104522,essv5411889,essv5479800,essv6319652,essv5964681,essv6022447,essv5511314 M 1151 0 45 C1orf130 HG01051,HG01098,HG01366,HG01390,NA18486,NA18498,NA18511,NA18522,NA18853,NA18871,NA18874,NA18910,NA18912,NA18916,NA18923,NA19093,NA19189,NA19197,NA19210,NA19238,NA19240,NA19311,NA19332,NA19360,NA19371,NA19372,NA19379,NA19384,NA19401,NA19404,NA19429,NA19436,NA19443,NA19445,NA19446,NA19457,NA19469,NA19703,NA19704,NA19834,NA19908,NA19916,NA19917,NA20341,NA20348 esv2560351 1 24940648 24941441 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277621 S 1 1 0 "" NA18507 esv270489 1 24941243 24941593 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 24941243 24941593 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 24958744 24967010 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179500 M 24 "" nsv460862 1 24986877 25039867 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537354 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SRRM1 HGDP00974 esv2745519 1 24994512 24997171 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6797459,essv6877672,essv6766558,essv6729634 M 96 0 4 SRRM1 SSM047,SSM064,SSM072,SSM093 nsv870740 1 25015418 25344155 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 25080522 25186716 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705795 S 2026 1 0 CLIC4 nsv871066 1 25082852 25147750 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 25112575 25185197 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 25116318 25196628 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 25157720 25161753 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183045 S 1 0 1 CLIC4 NA18507 esv2082154 1 25158490 25161719 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974766 S 1 0 1 CLIC4 NA18507 nsv511684 1 25158545 25161741 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626323 S 1 0 1 CLIC4 1 esv3809 1 25158670 25161579 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26250 S 1 0 1 Single Asian sample YH CLIC4 YH esv2745530 1 25158671 25161525 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6967942,essv6874719,essv6747793,essv6710600,essv6759058,essv6769532,essv6836197,essv6813179,essv6797460,essv6761869,essv6946510,essv6821194,essv6725856,essv6950575,essv6916819,essv6669332,essv6666908,essv6889015,essv6773446,essv6917446,essv6744947,essv6738818,essv6954761,essv6668971,essv6910059,essv6937691,essv6921737,essv6824991,essv6925701,essv6780884,essv6722016,essv6703870,essv6735983,essv6801625,essv6868722,essv6750616,essv6906104,essv6972366,essv6733494,essv6832608,essv6883262,essv6766559,essv6877673,essv6695765,essv6793304,essv6776946,essv6876998,essv6816809,essv6689273,essv6880425,essv6692781,essv6839985,essv6753507,essv6802265,essv6810345,essv6933319,essv6843900,essv6784754,essv6707277,essv6829022,essv6914006,essv6898618,essv6895853,essv6853252,essv6679183,essv6892328,essv6843932,essv6714256,essv6885990,essv6789164,essv6699602,essv6865263,essv6816596,essv6718172,essv6950329,essv6863969,essv6729635,essv6742152,essv6748520,essv6764172,essv6682837,essv6929066,essv6847037,essv6871727,essv6785002,essv6961576,essv6807382,essv6941797,essv6675210,essv6756560,essv6804409,essv6719020,essv6859203,essv6902549,essv6686160,essv6696997 M 96 0 96 CLIC4 SSM001,SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM030,SSM031,SSM032,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM047,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM057,SSM058,SSM059,SSM061,SSM062,SSM063,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 nsv498666 1 25158687 25161526 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585426 S 9 0 1 CLIC4 esv995974 1 25158690 25161511 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 25158703 25161525 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781063 S 2 0 1 CLIC4 HuRef esv995045 1 25158703 25164490 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + 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 25158704 25161525 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178897 M 24 CLIC4 esv7429 1 25158705 25161513 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29870 S 1 0 1 CLIC4 SJK esv2666206 1 25178744 25184034 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6495623,essv5595917,essv6375305,essv5663264,essv6128224,essv5789878,essv6257033 M 1151 0 7 "" HG00247,HG00256,HG01170,HG01353,NA07347,NA18613,NA19648 esv2676912 1 25201821 25203635 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6467934,essv6427064,essv6311922,essv6242585,essv5547532,essv6132954,essv6390559,essv5561533,essv5572604,essv6029705,essv6481745,essv5581784,essv6322336,essv6386766,essv5719321,essv5594196,essv5604107,essv6131769,essv5613087,essv5743179,essv5624314,essv5719706,essv6060659,essv5786661,essv6221636,essv5645591,essv6597131,essv5650557,essv5814707,essv6445070,essv6416129,essv5712086,essv6257988,essv6583252,essv6051384,essv5995495,essv6238313,essv6045505,essv6563092,essv5410620,essv6137910,essv5855472,essv5480758,essv5686297,essv5503349,essv6230682,essv5788096,essv6364089,essv6171360 M 1151 0 49 "" HG00638,HG01101,NA18519,NA18909,NA19099,NA19107,NA19130,NA19238,NA19239,NA19240,NA19256,NA19316,NA19317,NA19319,NA19327,NA19331,NA19332,NA19338,NA19346,NA19347,NA19360,NA19371,NA19373,NA19375,NA19399,NA19428,NA19430,NA19435,NA19436,NA19437,NA19438,NA19440,NA19443,NA19444,NA19446,NA19448,NA19452,NA19453,NA19457,NA19461,NA19462,NA19467,NA19468,NA19469,NA19472,NA19701,NA19703,NA19835,NA19920 esv26140 1 25201833 25203426 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10325 S 451 0 3 "" NA18909,NA19099,NA19240 nsv508581 1 25210979 25294719 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622760 S 4 0 1 RUNX3 NA18994 nsv871803 1 25230131 25267922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509732 S 6533 0 1 RUNX3 SP54956 dgv22e201 1 25328724 25329093 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2745563,esv2745541 M 96 0 6 "" SSM008,SSM011,SSM014,SSM028,SSM035,SSM052 dgv23e201 1 25328814 25329017 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2745552,esv2745574 M 96 0 3 "" SSM011,SSM014,SSM028 esv2745586 1 25346444 25346865 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6793305 S 96 0 1 "" SSM071 dgv198n71 1 25384533 25429473 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870575,nsv871482 M 6533 0 2 "" IS35701,MS20041 nsv870720 1 25397967 25486203 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558424 S 6533 1 0 "" MS23257 nsv526082 1 25409607 25419442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702326 S 2026 0 1 "" nsv471772 1 25410887 25411058 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646053 M 0.021 95 "" dgv44e1 1 25445510 25463851 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5839,esv1221 M 271 0 0 "" NA18524 nsv523480 1 25459432 25460648 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699245 S 2026 0 1 "" esv2745597 1 25493307 25493450 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6725857 S 96 0 1 "" SSM046 nsv818112 1 25519623 25525881 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417310 S 112 0 1 "" NA18608 nsv7187 1 25523618 25555997 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6432 S 9 1 0 SYF2 NA12156 esv2658297 1 25535878 25539752 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6064166 S 1151 0 1 "" NA19900 nsv7298 1 25571068 25672138 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 25573018 25672138 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv232 S 1 0 1 C1orf63,RHD,TMEM50A NA15510 nsv834469 1 25582406 25762535 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 25583315 25767616 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 25585016 25665386 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 25585016 25665432 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420280 S 1 0 1 RHD,TMEM50A NA10851 esv22615 1 25585225 25665195 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17091,esv19712 M 451 24 6 RHD,TMEM50A NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv32921 1 25585345 25664858 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96835,essv101286,essv101732,essv93733,essv95026,essv100169 M 51 3 3 RHD,TMEM50A 21659,21805,21909,21972,22231,22286 dgv3e180 1 25585436 25664813 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009924,esv990723 M 3 1 0 RHD,TMEM50A HuRef esv2745608 1 25586246 25656259 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6756561 S 96 0 1 RHD SSM059 esv2421857 1 25589146 25662212 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip 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 25589623 25664666 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871877,nsv870828 M 6533 0 2 RHD SP56089,SP56380 nsv433185 1 25589623 25664666 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463066 S 9 0 1 Samples from several populations that are part of the HapMap project. RHD NA12156 nsv820028 1 25590778 25664198 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 esv2677880 1 25590945 25662792 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5800248,essv5540999,essv6125030,essv6512070,essv5466236 M 1151 0 5 RHD HG01516,HG01518,HG01519,HG01521,HG01522 nsv498667 1 25590970 25662955 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585437 S 9 0 1 RHD esv2656832 1 25591745 25610392 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6287382,essv5516471,essv6227566,essv5521057,essv6121943,essv5676997,essv6415878,essv5828384,essv6534784,essv5553671,essv6465670,essv6016439,essv6052654,essv5562400,essv6296342,essv5571873,essv6482795,essv5584210,essv6414935,essv5588552,essv6191013,essv5916446,essv6570509,essv5600122,essv6139482,essv5969740,essv6062519,essv5902927,essv6567765,essv5887710,essv6570589,essv5611603,essv6260838,essv5615723,essv6049915,essv5939418,essv6120121,essv5727396,essv6107254,essv5632957,essv6435338,essv5636855,essv6237647,essv5777756,essv6544420,essv5653207,essv6354502,essv6024054,essv6586123,essv5781714,essv6597030,essv5676232,essv6310525,essv5990190,essv6575867,essv5767672,essv6222588,essv5920003,essv6316228,essv5741443,essv6337337,essv5903420,essv6587900,essv5796702,essv6258093,essv5768634,essv6209943,essv5706326,essv6057359,essv6033167,essv6361179,essv5703613,essv6149601,essv5735325,essv6461358,essv5416946,essv6412577,essv6042063,essv6063162,essv5775494,essv6079016,essv5432168,essv6208047,essv5867377,essv5451781,essv5870973,essv5770421,essv5490325,essv5980877 M 1151 0 89 RHD HG00096,HG00100,HG00108,HG00116,HG00118,HG00119,HG00122,HG00124,HG00126,HG00127,HG00131,HG00133,HG00136,HG00137,HG00138,HG00140,HG00142,HG00143,HG00146,HG00148,HG00150,HG00151,HG00152,HG00155,HG00156,HG00157,HG00158,HG00171,HG00173,HG00174,HG00176,HG00177,HG00179,HG00181,HG00182,HG00185,HG00188,HG00189,HG00231,HG00236,HG00239,HG00242,HG00243,HG00249,HG00251,HG00252,HG00253,HG00254,HG00258,HG00261,HG00262,HG00263,HG00265,HG00266,HG00268,HG00272,HG00273,HG00274,HG00275,HG00277,HG00278,HG00281,HG00285,HG00310,HG00313,HG00315,HG00319,HG00321,HG00323,HG00324,HG00327,HG00329,HG00330,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00353,HG00357,HG00366,HG00368,HG00375,HG00377,HG01334 nsv7174 1 25591787 25718224 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9251,nssv9262 M 9 0 0 RHCE,RHD,TMEM50A NA18517 nsv513984 1 25592663 25663607 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627847 S 1414 1 0 RHD nsv442830 1 25593128 25662005 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RHD nsv7409 1 25595332 25628187 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 25595981 25665432 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431065,nssv1429556 M 31 2 0 RHD,TMEM50A AK14,AK18 esv2451224 1 25596651 25659162 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204513 S 1 0 1 RHD NA18507 nsv482212 1 25598981 25656936 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 25609449 25663551 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 dgv32e199 1 25614045 25661892 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2677938,esv2657070 M 1151 0 82 RHD HG00096,HG00100,HG00108,HG00116,HG00118,HG00119,HG00122,HG00124,HG00126,HG00127,HG00131,HG00133,HG00136,HG00137,HG00138,HG00140,HG00143,HG00146,HG00148,HG00150,HG00152,HG00155,HG00156,HG00157,HG00158,HG00171,HG00173,HG00174,HG00176,HG00177,HG00179,HG00181,HG00185,HG00188,HG00189,HG00231,HG00236,HG00239,HG00243,HG00249,HG00251,HG00252,HG00253,HG00254,HG00258,HG00261,HG00262,HG00263,HG00265,HG00266,HG00268,HG00272,HG00273,HG00274,HG00275,HG00277,HG00278,HG00281,HG00285,HG00310,HG00313,HG00315,HG00319,HG00321,HG00323,HG00324,HG00327,HG00329,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00353,HG00366,HG00368,HG00375,HG01334 esv29997 1 25616136 25648458 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 25637805 25686904 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 25638598 25769298 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 25655520 25693203 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585484 S 9 0 0 RHCE,RHD,TMEM50A nsv870470 1 25659687 25914219 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 25665971 25695835 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 25666243 25679236 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 25670457 25732548 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 25672806 25732548 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 25680844 25695835 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 25688566 25750568 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 25688611 25751772 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 25688741 25747363 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 25711737 25744418 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 25748407 25768937 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 25755101 25798123 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 25758523 25760034 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375032 S 1 0 1 TMEM57 NA18507 esv2656499 1 25900344 25908041 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6229162,essv5974609,essv6239852 M 1151 0 3 "" NA18597,NA18618,NA19080 nsv834491 1 26052902 26240608 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 26069507 26144674 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 26088942 26092837 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 esv2745619 1 26094069 26095008 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836199,essv6843954,essv6785003 M 96 0 3 MAN1C1 SSM011,SSM069,SSM083 esv2116011 1 26094076 26094942 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648407 S 1 0 1 MAN1C1 NA18507 esv2671844 1 26094102 26094549 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6302272,essv5971021,essv5534911,essv6451449,essv6501573,essv5549242,essv5931704,essv5766028,essv6500767,essv5578674,essv6438205,essv6152211,essv5748706,essv5597764,essv5600099,essv6356210,essv5944376,essv6514627,essv6104479,essv6001839,essv5662503,essv5663711,essv6305917,essv6419141,essv6488467,essv6128223,essv5823134,essv6152273,essv5809589,essv6580691,essv6244162,essv5900991,essv6022301,essv6052212,essv6542553,essv6463989,essv6039679,essv6169379,essv6199445,essv6511818,essv6336565,essv5949810,essv5923415,essv5507160,essv5899214,essv5509131 M 1151 0 46 MAN1C1 HG00149,HG00182,HG00242,HG00265,HG00366,HG00690,HG00704,HG00708,HG01112,HG01134,HG01137,HG01148,HG01353,HG01366,HG01389,HG01518,HG01519,NA12272,NA18606,NA18615,NA18618,NA18870,NA18963,NA19010,NA19072,NA19082,NA19084,NA19331,NA19355,NA19373,NA19385,NA19397,NA19431,NA19452,NA19717,NA19729,NA19750,NA19756,NA19783,NA20294,NA20344,NA20356,NA20581,NA20755,NA20757,NA20778 esv2745630 1 26095040 26095643 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6769533 S 96 0 1 MAN1C1 SSM065 nsv460884 1 26104973 26218084 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 26124348 26170028 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 dgv24e201 1 26134471 26135204 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2743347,esv2745641,esv2741631 M 96 0 39 SEPN1 SSM003,SSM008,SSM013,SSM014,SSM015,SSM017,SSM018,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM028,SSM029,SSM031,SSM032,SSM034,SSM037,SSM039,SSM040,SSM042,SSM043,SSM047,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM072,SSM073,SSM079,SSM080,SSM081,SSM084,SSM085,SSM087 esv2353706 1 26134600 26135049 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4547374 S 1 0 1 SEPN1 NA18507 esv2742604 1 26134636 26135065 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6892329 S 96 0 1 SEPN1 SSM098 esv2745652 1 26134691 26134830 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6675211 S 96 0 1 SEPN1 SSM032 esv1998326 1 26148779 26149450 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882212 S 1 0 1 FAM54B,LOC646471 NA18507 esv2671091 1 26148939 26149265 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6231927,essv6079568,essv5541892,essv5999992,essv6277930,essv6151447,essv6361928,essv5578526,essv5769662,essv6245172,essv5587061,essv5588725,essv5594137,essv6516520,essv5597437,essv6289516,essv5664671,essv6339323,essv5622593,essv5637828,essv6008796,essv5916659,essv5884073,essv6061331,essv5833127,essv6001882,essv5712234,essv5877205,essv5717068,essv5784399,essv6301192,essv6339472,essv5769786,essv6355477,essv5956744,essv5754214,essv6069253,essv6126063,essv5397231,essv6394726,essv5422356,essv5852850,essv6500975,essv6484123,essv5857195,essv6412534,essv6251633,essv5440775,essv6403543,essv6385446,essv6506113,essv6504522,essv5954357,essv6065592,essv6333831,essv6523331,essv5485353,essv6368133 M 1151 0 58 FAM54B,LOC646471 HG01101,NA18498,NA18502,NA18508,NA18517,NA18853,NA18871,NA18873,NA18874,NA18907,NA18908,NA18910,NA18912,NA18916,NA19099,NA19108,NA19129,NA19130,NA19189,NA19198,NA19257,NA19319,NA19332,NA19346,NA19360,NA19371,NA19372,NA19373,NA19395,NA19396,NA19397,NA19398,NA19404,NA19428,NA19429,NA19436,NA19437,NA19440,NA19445,NA19448,NA19452,NA19453,NA19462,NA19471,NA19654,NA19703,NA19704,NA19707,NA19712,NA19713,NA19819,NA19901,NA20127,NA20281,NA20287,NA20291,NA20294,NA20346 nsv834502 1 26160772 26313919 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 26162815 26163288 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423950 S 31 0 1 C1orf135 NA18582 nsv871062 1 26188625 26283961 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 26249471 26413876 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 esv2664402 1 26268407 26269100 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6321765,essv5958621,essv6570918,essv6179240,essv5577635,essv5878810,essv5889028,essv5711041,essv6201025,essv6073791,essv5411285,essv6285818,essv5897977,essv6228959,essv6017624,essv5900309 M 1151 0 16 "" NA18486,NA18504,NA18505,NA18856,NA19138,NA19152,NA19204,NA19238,NA19240,NA19381,NA19382,NA19399,NA19834,NA19909,NA19917,NA20348 esv2671144 1 26274083 26274411 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6077443,essv5574179,essv6303005,essv5802954,essv5625271,essv5626186,essv6020522,essv6014836,essv6009263,essv5713581,essv5706561,essv5750407,essv5676336,essv6500308,essv6466004,essv5433387,essv5861714,essv6323824,essv5872269,essv6419842,essv6052305 M 1151 0 21 "" NA11892,NA11893,NA12286,NA12546,NA12748,NA12829,NA12842,NA19256,NA20513,NA20514,NA20759,NA20761,NA20769,NA20790,NA20795,NA20802,NA20806,NA20812,NA20816,NA20818,NA20819 nsv7501 1 26313473 26346914 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 26335929 26380805 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 26377557 26432627 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 26450101 26467994 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 26450295 26450997 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 26454424 26483333 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 26456140 26464455 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 26459315 26464924 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626324 S 1 0 1 "" 1 esv23014 1 26459570 26464632 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 dgv33e199 1 26459745 26464769 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2670836,esv2675387,esv2660377 M 1151 0 228 "" HG00106,HG00108,HG00122,HG00140,HG00141,HG00150,HG00154,HG00158,HG00160,HG00177,HG00178,HG00181,HG00188,HG00189,HG00190,HG00242,HG00243,HG00260,HG00262,HG00263,HG00269,HG00275,HG00276,HG00309,HG00310,HG00318,HG00320,HG00323,HG00325,HG00326,HG00328,HG00330,HG00334,HG00338,HG00346,HG00353,HG00361,HG00377,HG00553,HG00638,HG00641,HG00731,HG00737,HG01048,HG01060,HG01067,HG01069,HG01070,HG01083,HG01095,HG01107,HG01112,HG01124,HG01173,HG01183,HG01190,HG01197,HG01198,HG01204,HG01250,HG01353,HG01384,HG01390,HG01461,HG01462,HG01488,HG01491,HG01492,NA06984,NA07000,NA07357,NA10851,NA11830,NA11831,NA11893,NA11894,NA12043,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12341,NA12348,NA12399,NA12400,NA12546,NA12775,NA12813,NA12828,NA12842,NA12889,NA18487,NA18499,NA18505,NA18508,NA18510,NA18511,NA18532,NA18552,NA18636,NA18637,NA18868,NA18874,NA18907,NA18909,NA18910,NA18912,NA18923,NA18924,NA19093,NA19098,NA19102,NA19107,NA19108,NA19116,NA19119,NA19131,NA19137,NA19147,NA19171,NA19197,NA19198,NA19200,NA19207,NA19209,NA19223,NA19225,NA19235,NA19238,NA19256,NA19312,NA19313,NA19315,NA19321,NA19324,NA19331,NA19350,NA19355,NA19359,NA19376,NA19379,NA19383,NA19390,NA19393,NA19394,NA19396,NA19397,NA19399,NA19401,NA19403,NA19428,NA19429,NA19431,NA19434,NA19435,NA19438,NA19439,NA19443,NA19444,NA19445,NA19446,NA19449,NA19453,NA19456,NA19457,NA19461,NA19466,NA19467,NA19468,NA19472,NA19654,NA19660,NA19664,NA19679,NA19711,NA19713,NA19725,NA19914,NA19917,NA19921,NA19985,NA20289,NA20296,NA20317,NA20340,NA20344,NA20348,NA20502,NA20504,NA20509,NA20510,NA20512,NA20513,NA20514,NA20515,NA20516,NA20522,NA20524,NA20525,NA20527,NA20532,NA20533,NA20535,NA20541,NA20544,NA20581,NA20588,NA20754,NA20755,NA20758,NA20760,NA20766,NA20771,NA20772,NA20774,NA20775,NA20787,NA20795,NA20798,NA20800,NA20802,NA20804,NA20806,NA20811,NA20816,NA20828 nsv498668 1 26460095 26464807 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585448 S 9 0 1 "" nsv821140 1 26460498 26465112 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420292 S 1 0 1 "" NA10851 nsv822187 1 26460498 26465112 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 26460557 26464161 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 26470998 26471411 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736067 S 1 0 1 "" NA18507 nsv871237 1 26482556 26515860 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 26489777 26490342 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27236 S 1 0 1 Single Asian sample YH "" YH esv2745663 1 26489809 26490144 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6902551,essv6836200,essv6759059,essv6710602,essv6950577,essv6725858,essv6916841,essv6669343,essv6889016,essv6773448,essv6906108,essv6744948,essv6668973,essv6954764,essv6801627,essv6937693,essv6921739,essv6780886,essv6824993,essv6722017,essv6703872,essv6785005,essv6868723,essv6910061,essv6813180,essv6714258,essv6832609,essv6766560,essv6877674,essv6972368,essv6816821,essv6689274,essv6933321,essv6880426,essv6793306,essv6692783,essv6810346,essv6883263,essv6892330,essv6707278,essv6829024,essv6699604,essv6679184,essv6843965,essv6853255,essv6729637,essv6789167,essv6885991,essv6816597,essv6718173,essv6863970,essv6802376,essv6847038,essv6764173,essv6682839,essv6843902,essv6686162,essv6895855,essv6871728,essv6675212,essv6961577,essv6804411,essv6756562,essv6859204,essv6941799,essv6807383,essv6696999 M 96 0 67 "" SSM002,SSM003,SSM005,SSM010,SSM011,SSM013,SSM014,SSM015,SSM018,SSM021,SSM022,SSM023,SSM025,SSM026,SSM027,SSM029,SSM031,SSM032,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM047,SSM055,SSM059,SSM061,SSM063,SSM064,SSM066,SSM068,SSM069,SSM070,SSM071,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM080,SSM081,SSM082,SSM083,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM099 nsv160685 1 26489813 26490138 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179263 M 24 "" esv1290851 1 26489823 26490149 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833066 S 2 0 1 "" HuRef esv9535 1 26489847 26490139 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31976 S 1 0 1 "" SJK dgv201n71 1 26521140 26570009 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871627,nsv871728 M 6533 3 0 CATSPER4,CEP85 MS25751,SP50856,SP54720 esv2745674 1 26608638 26609076 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6839988 S 96 0 1 UBXN11 SSM084 nsv871165 1 26658391 26709504 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592101 S 6533 0 1 AIM1L,ZNF683 IS39233 esv2658785 1 26661234 26661788 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6596271,essv5662530,essv6432689 M 1151 0 3 AIM1L HG00418,NA18632,NA19074 esv2745685 1 26670841 26672080 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6868724,essv6759060,essv6836201,essv6714259,essv6937694,essv6780887,essv6972369,essv6729638,essv6898619 M 96 0 9 AIM1L SSM022,SSM029,SSM043,SSM047,SSM061,SSM068,SSM083,SSM090,SSM100 esv2745697 1 26671160 26671804 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6759060,essv6836201,essv6868724,essv6780887,essv6937694,essv6714259,essv6729638,essv6898619 M 96 0 8 AIM1L SSM022,SSM043,SSM047,SSM061,SSM068,SSM083,SSM090,SSM100 esv2745708 1 26671406 26671587 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6898619,essv6836201,essv6868724 M 96 0 3 AIM1L SSM083,SSM090,SSM100 esv1007945 1 26671507 26671557 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 26671522 26671573 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874525 S 2 0 1 AIM1L HuRef esv993255 1 26671529 26671579 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 26726303 26726303 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860909 S 2 1 0 "" HuRef esv1539325 1 26726309 26726309 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612388 S 2 1 0 "" HuRef dgv202n71 1 26785926 26899444 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871510,nsv871045 M 6533 0 2 DHDDS,HMGN2,MIR1976,RPS6KA1 IS37646,MS17208 nsv526179 1 26861281 26905567 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702441 S 2026 1 0 MIR1976,RPS6KA1 esv8356 1 26921741 26921804 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30797 S 1 1 0 "" SJK nsv7175 1 26924474 27013442 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 esv2675869 1 26960845 26964542 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5664973,essv5517951,essv6267957,essv5888950,essv6159954,essv6587450,essv6566398,essv6559479,essv6529752,essv5990676,essv5776993,essv5534434,essv5748576,essv6556068,essv5752424,essv5724819,essv5991736,essv6468592,essv5890061,essv6589909,essv5559459,essv6462027,essv5565156,essv6517337,essv6029269,essv5736488,essv6208659,essv5750699,essv5819757,essv6065791,essv6507943,essv6023037,essv5601284,essv6238872,essv5602542,essv5807183,essv5605635,essv6328750,essv5929796,essv5608011,essv6198991,essv5726142,essv6134468,essv6247509,essv6544205,essv6531873,essv6478476,essv6029109,essv6435458,essv6110156,essv5710359,essv5634157,essv5635087,essv5635409,essv5636077,essv6203073,essv6529960,essv6405732,essv5725531,essv5777934,essv6172130,essv5835264,essv6115109,essv5654616,essv5750114,essv5656579,essv6500522,essv5741634,essv6465137,essv5874843,essv6156340,essv5820257,essv6273283,essv6317292,essv6278167,essv6157685,essv5824535,essv6066746,essv5710313,essv5711764,essv6585924,essv6124040,essv5832642,essv6295124,essv6025720,essv5961638,essv6252935,essv6457208,essv5898139,essv6351309,essv5943179,essv6590244,essv6583254,essv6249690,essv5935301,essv6072634,essv5824210,essv6355154,essv6146079,essv5817535,essv5403542,essv6252533,essv5838761,essv6147646,essv5828172,essv6593383,essv6178506,essv5698801,essv5848002,essv6249713,essv5415815,essv5416539,essv5417997,essv5420380,essv6091890,essv5730013,essv5775357,essv6157312,essv5437475,essv6316913,essv5861817,essv5443462,essv6333802,essv6229490,essv6333035,essv5687760,essv6471335,essv5870410,essv5870473,essv5680938,essv6174958,essv5466097,essv5468708,essv5680427,essv6139602,essv6073574,essv5474126,essv6394375,essv5681896,essv6531213,essv6565967,essv6085083,essv6456316,essv6373838,essv5716306,essv6450879,essv6287432,essv5939566,essv5756525,essv5728665,essv5505611,essv6049375,essv5821621,essv5512034,essv5514039 M 1151 0 155 "" HG00403,HG00418,HG00419,HG00421,HG00422,HG00428,HG00442,HG00443,HG00448,HG00463,HG00464,HG00473,HG00476,HG00478,HG00500,HG00513,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00556,HG00578,HG00580,HG00584,HG00589,HG00590,HG00596,HG00607,HG00610,HG00613,HG00614,HG00619,HG00620,HG00628,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG01124,HG01136,HG01137,HG01140,HG01148,HG01149,HG01350,HG01351,HG01353,HG01354,HG01356,HG01383,HG01384,HG01389,HG01390,HG01437,HG01440,HG01441,HG01461,HG01489,HG01491,HG01492,HG01497,HG01498,NA18526,NA18535,NA18541,NA18546,NA18557,NA18560,NA18565,NA18566,NA18567,NA18572,NA18595,NA18599,NA18602,NA18606,NA18611,NA18613,NA18617,NA18618,NA18619,NA18624,NA18626,NA18627,NA18636,NA18637,NA19312,NA19313,NA19319,NA19347,NA19355,NA19377,NA19391,NA19396,NA19397,NA19429,NA19431,NA19434,NA19436,NA19437,NA19438,NA19440,NA19443,NA19445,NA19449,NA19452,NA19453,NA19455,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19664,NA19675,NA19678,NA19679,NA19681,NA19682,NA19717,NA19720,NA19729,NA19732,NA19747,NA19750,NA19762,NA19773,NA19774,NA19777,NA19780 esv2671795 1 26961278 26963544 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6113134,essv5534944,essv5938040,essv5536961,essv6237104,essv6131743,essv5789197,essv6547581,essv6073124,essv5950987,essv6277030,essv5578617,essv6481122,essv5584876,essv6334972,essv5605829,essv6355964,essv6537243,essv5719493,essv6027946,essv5654801,essv5658852,essv6472545,essv6254661,essv5959918,essv5978522,essv6136779,essv6305338,essv5711570,essv6394515,essv5713756,essv5966284,essv6506209,essv6016668,essv6448542,essv6165822,essv5801159,essv5897027,essv5907424,essv6356548,essv6104520,essv5409818,essv5415167,essv6422612,essv5420406,essv6423972,essv6297040,essv5433272,essv6595086,essv5856166,essv5859958,essv5441817,essv6484145,essv5451796,essv6540148,essv5733153,essv6541024,essv6405808,essv5466253,essv6490593,essv6257012,essv5756465,essv5770217,essv5771176,essv6405909,essv6226046,essv6175225,essv5509127 M 1151 0 68 "" HG00190,HG00501,HG00512,HG00531,HG00610,HG00637,HG00698,HG00736,HG01051,HG01061,HG01079,HG01082,HG01124,HG01133,HG01137,HG01149,HG01168,HG01187,HG01188,HG01351,HG01383,HG01437,HG01461,HG01489,HG01498,NA18520,NA18523,NA18535,NA18541,NA18557,NA18567,NA18602,NA18605,NA18618,NA18619,NA18624,NA18941,NA18942,NA18952,NA18999,NA19007,NA19068,NA19072,NA19083,NA19256,NA19319,NA19396,NA19397,NA19445,NA19449,NA19453,NA19467,NA19675,NA19678,NA19679,NA19681,NA19682,NA19717,NA19720,NA19732,NA19747,NA19762,NA19770,NA19773,NA19777,NA19783,NA19835,NA19916 esv994838 1 26964851 26977135 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 26966259 26974522 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513635,nsv513634 M 1 0 0 "" 1 nsv499540 1 26966819 26973363 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585485 S 9 0 0 "" esv1761897 1 26967822 26973219 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4032934 S 2 0 0 "" HuRef nsv822198 1 26970748 26972771 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427251 S 31 1 0 "" AK8 esv275548 1 26997066 27025789 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586060 S 1250 0 1 ARID1A esv1007463 1 27009901 27014649 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 27068189 27113031 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 27112461 27158344 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 27127409 27151009 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 27156675 27320993 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 27183584 27204314 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 27238953 27285997 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 27253775 27253775 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022881 S 2 1 0 NUDC HuRef esv2671514 1 27287667 27288062 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6531659,essv6312555,essv5827975,essv6041653,essv6487371,essv5545135,essv5559363,essv5922137,essv6390557,essv5996080,essv6152808,essv6042012,essv5911882,essv6174480,essv5806053,essv6330238,essv6100320,essv6371698,essv6509461,essv6126844,essv5935073,essv5623078,essv6341931,essv5626743,essv6286697,essv5674645,essv6127615,essv6248633,essv5633661,essv5636100,essv6283118,essv6405738,essv6188311,essv6108865,essv6084185,essv6317538,essv6050516,essv5882293,essv5997698,essv6055621,essv6071216,essv5708963,essv6094520,essv5797781,essv6142312,essv5799790,essv6541642,essv6426336,essv6597925,essv5418416,essv6548667,essv6530760,essv5426638,essv5693358,essv6578635,essv5860587,essv6498050,essv5867432,essv6338259,essv5680263,essv5459836,essv6188587,essv6594541,essv6572899,essv6207800,essv5486119,essv5495486,essv6376934,essv5506767,essv5812587 M 1151 0 70 "" HG00640,HG00641,HG01048,HG01067,HG01070,HG01083,HG01125,NA11831,NA12751,NA18486,NA18498,NA18502,NA18507,NA18508,NA18516,NA18517,NA18519,NA18522,NA18542,NA18858,NA18908,NA18909,NA18947,NA18956,NA18960,NA18967,NA18971,NA18981,NA19092,NA19093,NA19114,NA19116,NA19137,NA19144,NA19152,NA19159,NA19171,NA19172,NA19197,NA19201,NA19204,NA19209,NA19223,NA19328,NA19346,NA19350,NA19355,NA19359,NA19372,NA19373,NA19376,NA19384,NA19385,NA19393,NA19395,NA19399,NA19403,NA19404,NA19439,NA19449,NA19453,NA19456,NA19466,NA19761,NA19900,NA19908,NA19909,NA19921,NA19982,NA20282 nsv870497 1 27316178 27345751 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 27333076 27506417 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 esv2745719 1 27359255 27359475 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6769535,essv6902553 M 96 0 2 "" SSM013,SSM065 nsv509058 1 27395339 27435856 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 27412765 27413175 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196385 S 1 1 0 "" NA18507 esv28309 1 27464813 27466118 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 esv2659298 1 27464868 27466108 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6572730,essv6044840,essv5916469,essv5731995,essv5944633,essv5426497,essv5745283 M 1151 0 7 SLC9A1 HG01390,NA19108,NA19114,NA19375,NA19431,NA19439,NA19461 esv1220296 1 27487003 27487650 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949051 S 2 0 1 "" HuRef esv2666973 1 27487343 27491650 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5947985 S 1151 0 1 "" HG00500 esv2671524 1 27502034 27515688 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5398043 S 1151 0 1 "" NA19726 esv2665584 1 27571330 27572366 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6566921,essv6286247,essv6478667,essv5524500,essv6401614,essv6024848,essv6571527,essv5911852,essv5556556,essv5563340,essv5730220,essv5573274,essv5882481,essv5833299,essv5883640,essv5966725,essv5973720,essv6168864,essv6038244,essv6091461,essv5476047,essv5494353,essv5770268 M 1151 0 23 WDTC1 HG01137,NA18487,NA18867,NA19093,NA19235,NA19247,NA19346,NA19355,NA19359,NA19371,NA19380,NA19395,NA19396,NA19397,NA19429,NA19430,NA19434,NA19435,NA19437,NA19444,NA19451,NA19452,NA19468 nsv526051 1 27610746 27772009 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 27610746 27931698 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 27662235 27731651 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 27671698 27695777 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870964,nsv871238,nsv870756 M 6533 0 3 FCN3,MAP3K6,SYTL1 SP54043,SP54725,SP54988 nsv870665 1 27679797 27705565 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 27693067 27707009 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 esv2661510 1 27768246 27769036 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6464969,essv5573219,essv6331675,essv5748912,essv6406462,essv5656985 M 1151 0 6 WASF2 HG00595,HG00683,NA18541,NA18635,NA18638,NA19070 dgv14n27 1 27772009 27945359 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 27800482 27951127 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871344,nsv870647 M 6533 0 2 AHDC1,FGR,WASF2 IS37646,MS16153 esv2459986 1 27803299 27804869 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207086 S 1 0 1 WASF2 NA18507 esv2248480 1 27803915 27804641 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593459 S 1 0 1 WASF2 NA18507 esv2745730 1 27804017 27804455 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6954765,essv6898620,essv6950578,essv6666909,essv6876374,essv6937696,essv6703873,essv6776948,essv6839989,essv6679185,essv6729639,essv6748553,essv6961578,essv6784765 M 96 0 14 WASF2 SSM001,SSM008,SSM009,SSM022,SSM025,SSM026,SSM027,SSM030,SSM033,SSM040,SSM047,SSM067,SSM084,SSM100 esv4796 1 27804067 27804536 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27237 S 1 0 1 Single Asian sample YH WASF2 YH esv2671164 1 27804112 27804441 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6260395,essv6441199,essv6112107,essv5517948,essv6080799,essv5520889,essv5936892,essv6397001,essv6100133,essv6258189,essv6013184,essv6506664,essv6029157,essv5817783,essv5526788,essv6180838,essv5733547,essv6397014,essv5899747,essv5946540,essv6287694,essv6124918,essv5535849,essv6442647,essv6440712,essv5538367,essv6341358,essv6447581,essv6399532,essv5541373,essv5541790,essv5829901,essv5832427,essv6596666,essv5546068,essv6242067,essv5994696,essv6276449,essv5550038,essv5814963,essv5550834,essv6017155,essv6427098,essv6215862,essv6331828,essv5555057,essv6439308,essv6085762,essv5780015,essv6523872,essv5948450,essv6068265,essv5559498,essv6535413,essv6103896,essv5969595,essv6231143,essv6103026,essv5720598,essv5830147,essv6190973,essv6030218,essv5570883,essv6424807,essv5884529,essv6242109,essv5778654,essv6094682,essv6168658,essv6511191,essv5805021,essv5730859,essv6383142,essv6019690,essv6500171,essv6598435,essv6185508,essv6071742,essv5596772,essv5597255,essv6288330,essv6399601,essv5600994,essv6344485,essv5602130,essv5803540,essv5602860,essv5800074,essv5725938,essv5605763,essv6500483,essv6123131,essv5610100,essv6122602,essv6581949,essv5613267,essv6546878,essv6350981,essv5614513,essv6417125,essv5618272,essv6299068,essv6180248,essv5620097,essv6063374,essv6072524,essv6385129,essv6148378,essv6328000,essv6194454,essv5804009,essv6362424,essv6175935,essv5787919,essv5632973,essv5847055,essv6241796,essv5638084,essv6027426,essv6140705,essv6157277,essv6415335,essv6439359,essv6544626,essv6256005,essv6317252,essv5645133,essv5647793,essv6329771,essv5796746,essv6416400,essv5649758,essv6237908,essv5650599,essv5651342,essv6561922,essv6596775,essv5654604,essv6517587,essv6590796,essv6111039,essv5942358,essv6270565,essv5728867,essv5741683,essv6173551,essv6285024,essv6217473,essv6361071,essv5998769,essv6528547,essv5943744,essv6517533,essv6208128,essv5793667,essv5900809,essv6126155,essv5676724,essv5960840,essv6372990,essv6581448,essv6078138,essv5983262,essv5960298,essv6573520,essv6030499,essv5804181,essv6245775,essv5923963,essv6028820,essv6271585,essv5960925,essv6079621,essv6587180,essv5999494,essv5819554,essv6051183,essv6528760,essv5799079,essv5836076,essv5846995,essv5938748,essv5907962,essv5760489,essv5972713,essv5936815,essv5876719,essv5880614,essv5703113,essv6436076,essv6278800,essv6178149,essv6493642,essv5741276,essv5912507,essv5966790,essv6183112,essv6024491,essv6070550,essv6114553,essv5697456,essv5841233,essv6315564,essv6153236,essv6450729,essv5396943,essv6561715,essv6492950,essv5398333,essv6546474,essv6071907,essv6104100,essv5814959,essv5673761,essv5801748,essv6438247,essv5408394,essv6473587,essv5699664,essv5696713,essv5410798,essv6533530,essv5411308,essv5766920,essv5702794,essv5716088,essv5745892,essv5413441,essv6208231,essv6108242,essv6520028,essv5415834,essv6073532,essv6046955,essv5419990,essv5420608,essv6483853,essv5851125,essv6113749,essv6096773,essv5424657,essv6471909,essv5426352,essv5426627,essv5695084,essv6193884,essv5856382,essv6510144,essv5695628,essv6512191,essv5857219,essv5763922,essv5438092,essv5860097,essv5439305,essv5440087,essv6094877,essv6090982,essv5862011,essv6194665,essv6520052,essv5443280,essv6330752,essv6077576,essv6568116,essv5862715,essv6384346,essv6398380,essv5447288,essv5451087,essv6504114,essv5453205,essv5456217,essv5457342,essv5873590,essv6256249,essv6515249,essv6306367,essv5721150,essv5731123,essv6595875,essv6006704,essv5683641,essv5957900,essv6064725,essv5473547,essv5473843,essv5474518,essv5729620,essv5477339,essv6200776,essv6416043,essv5685040,essv6218258,essv6463027,essv5481033,essv5481314,essv5687203,essv5980177,essv5680172,essv6158008,essv6252849,essv6409392,essv5733171,essv6366311,essv5494526,essv5495832,essv6051127,essv6155143,essv5500894,essv6208608,essv5503841,essv5504556,essv5927048,essv6401778,essv5505541,essv5904980,essv5507866,essv5508080,essv5509932,essv6119585,essv5512125,essv5513834 M 1151 0 323 WASF2 HG00108,HG00111,HG00117,HG00140,HG00145,HG00156,HG00158,HG00171,HG00183,HG00185,HG00188,HG00245,HG00252,HG00259,HG00266,HG00273,HG00274,HG00275,HG00278,HG00281,HG00285,HG00308,HG00310,HG00334,HG00336,HG00338,HG00339,HG00343,HG00346,HG00353,HG00367,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00437,HG00442,HG00443,HG00448,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00533,HG00534,HG00537,HG00542,HG00543,HG00557,HG00560,HG00565,HG00566,HG00578,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00593,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00628,HG00629,HG00634,HG00635,HG00638,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG01048,HG01066,HG01069,HG01072,HG01101,HG01108,HG01125,HG01170,HG01204,HG01365,HG01378,HG01521,NA07051,NA07346,NA11992,NA12006,NA12342,NA12546,NA18486,NA18487,NA18489,NA18498,NA18499,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18530,NA18534,NA18537,NA18543,NA18545,NA18546,NA18559,NA18561,NA18562,NA18565,NA18566,NA18567,NA18570,NA18571,NA18574,NA18576,NA18579,NA18593,NA18595,NA18597,NA18599,NA18605,NA18608,NA18611,NA18612,NA18613,NA18614,NA18615,NA18626,NA18628,NA18630,NA18634,NA18635,NA18636,NA18637,NA18853,NA18856,NA18858,NA18861,NA18868,NA18870,NA18871,NA18873,NA18874,NA18907,NA18908,NA18909,NA18910,NA18916,NA18923,NA18933,NA18934,NA18940,NA18950,NA18960,NA18963,NA18983,NA18986,NA18989,NA18990,NA19003,NA19004,NA19007,NA19009,NA19010,NA19054,NA19055,NA19059,NA19062,NA19064,NA19074,NA19078,NA19084,NA19088,NA19093,NA19098,NA19099,NA19107,NA19108,NA19114,NA19119,NA19129,NA19131,NA19137,NA19144,NA19147,NA19159,NA19160,NA19172,NA19189,NA19190,NA19197,NA19198,NA19200,NA19204,NA19207,NA19213,NA19225,NA19247,NA19248,NA19256,NA19257,NA19315,NA19327,NA19334,NA19350,NA19371,NA19372,NA19376,NA19377,NA19381,NA19382,NA19390,NA19391,NA19396,NA19398,NA19399,NA19404,NA19434,NA19436,NA19438,NA19440,NA19449,NA19455,NA19466,NA19469,NA19625,NA19654,NA19658,NA19700,NA19701,NA19703,NA19704,NA19707,NA19711,NA19712,NA19713,NA19818,NA19819,NA19834,NA19835,NA19900,NA19901,NA19904,NA19908,NA19909,NA19916,NA19917,NA19920,NA19921,NA19982,NA19985,NA20126,NA20127,NA20281,NA20289,NA20291,NA20294,NA20322,NA20346,NA20348,NA20521,NA20525,NA20528,NA20538,NA20543,NA20585,NA20760,NA20765,NA20770,NA20785,NA20786,NA20809 esv2049917 1 27815838 27816153 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809581 S 1 0 1 WASF2 NA18507 nsv159932 1 27815903 27815985 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178510 M 24 WASF2 nsv460917 1 27849300 27937456 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 27849300 28011854 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698494 S 2026 1 0 AHDC1,FGR,IFI6 dgv206n71 1 27849938 27931698 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870862,nsv871168 M 6533 0 2 AHDC1 IS33684,IS39233 dgv207n71 1 27849938 27965892 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870747,nsv871256,nsv871871 M 6533 0 3 AHDC1,FGR IS32737,IS32841,SP54956 nsv520790 1 27859036 27876482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697612 S 2026 0 1 AHDC1 esv6834 1 27874078 27874157 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29275 S 1 1 0 AHDC1 SJK nsv508700 1 27883154 27980196 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 27921423 27922378 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 esv2745741 1 27935044 27935874 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6759061,essv6954766,essv6801628,essv6972370,essv6832611,essv6695776,essv6816600,essv6742155,essv6784776,essv6917448 M 96 0 10 "" SSM006,SSM009,SSM017,SSM026,SSM029,SSM053,SSM061,SSM073,SSM078,SSM082 esv3938 1 27935256 27935801 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26379 S 1 0 1 Single Asian sample YH "" YH esv2671833 1 27935377 27935497 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6132419,essv6212112,essv6238428,essv5519483,essv6128902,essv6050075,essv5674560,essv5526558,essv5533020,essv5935364,essv6419329,essv5944165,essv5920276,essv5548433,essv6566685,essv6532210,essv6559019,essv5930573,essv5746059,essv5928496,essv6057171,essv5567779,essv5569055,essv5575018,essv5576206,essv5580602,essv6318817,essv6008794,essv5731888,essv6130995,essv5591625,essv5596147,essv6441982,essv5969014,essv5776929,essv5718325,essv5898116,essv5606064,essv5890768,essv5764770,essv6560994,essv6234435,essv6342310,essv5805930,essv5626132,essv5631059,essv5938399,essv5748794,essv6023411,essv5731724,essv6068321,essv6576928,essv5808951,essv5645280,essv6236283,essv5653142,essv5654365,essv5654837,essv5657651,essv6359565,essv6111054,essv5792046,essv6000224,essv6297502,essv6462440,essv5726382,essv5897839,essv5876626,essv5709266,essv6479146,essv5815082,essv5952684,essv5827798,essv6404629,essv6207391,essv6598044,essv6038317,essv5400050,essv6376003,essv5408921,essv5409966,essv5851744,essv5414807,essv5416066,essv6046864,essv6384142,essv6083652,essv5695168,essv6418609,essv5860010,essv5731118,essv5863213,essv5452097,essv5455188,essv5457909,essv5459034,essv6416988,essv5869118,essv5471203,essv6286416,essv5716941,essv5995609,essv5928309,essv5687246,essv5911098,essv6120027,essv5491598,essv5924614,essv5750100,essv5795808,essv6565442,essv6232771,essv5505281,essv5673763,essv6172799,essv5841213,essv6091942,essv5770782,essv5514301 M 1151 0 119 "" HG00108,HG00111,HG00125,HG00137,HG00138,HG00140,HG00154,HG00186,HG00232,HG00237,HG00253,HG00256,HG00257,HG00259,HG00261,HG00268,HG00273,HG00281,HG00282,HG00284,HG00285,HG00309,HG00313,HG00315,HG00318,HG00319,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00329,HG00330,HG00334,HG00335,HG00337,HG00338,HG00339,HG00343,HG00344,HG00345,HG00375,HG00421,HG00436,HG00437,HG00449,HG00463,HG00473,HG00475,HG00478,HG00500,HG00512,HG00525,HG00531,HG00533,HG00534,HG00536,HG00542,HG00556,HG00580,HG00583,HG00589,HG00590,HG00619,HG00650,HG00654,HG00656,HG00663,HG00672,HG00689,HG00692,HG00699,HG00702,HG00704,HG00707,HG01051,HG01060,HG01066,HG01070,HG01072,HG01073,HG01083,HG01101,HG01107,HG01173,HG01174,HG01350,HG01366,HG01374,HG01375,HG01377,HG01389,HG01440,NA07347,NA11830,NA11894,NA11919,NA11992,NA12003,NA12004,NA12043,NA12829,NA18536,NA18542,NA18557,NA18572,NA18576,NA18577,NA18595,NA18605,NA18610,NA18612,NA18621,NA18622,NA18623,NA18624,NA18951,NA20504 esv2527619 1 27935391 27935519 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200455 S 1 0 1 "" NA18507 esv2745752 1 27935403 27935524 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6954766,essv6816600 M 96 0 2 "" SSM026,SSM078 esv259985 1 27979191 27979572 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 27979436 27979436 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178639 M 24 "" esv2677722 1 27979651 27980508 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5620706 S 1151 0 1 "" NA19360 esv2745763 1 27995434 27995696 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6954767,essv6933322,essv6776949,essv6692784,essv6829025,essv6789168,essv6853256,essv6699605,essv6675213 M 96 0 9 IFI6 SSM021,SSM026,SSM032,SSM037,SSM039,SSM067,SSM070,SSM081,SSM087 esv2745774 1 27995490 27995618 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6692784,essv6829025,essv6853256,essv6699605,essv6675213 M 96 0 5 IFI6 SSM032,SSM037,SSM039,SSM081,SSM087 esv2745785 1 27995552 27995696 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6789168 S 96 0 1 IFI6 SSM070 esv2664138 1 28036280 28038946 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6481352 S 1151 0 1 "" HG00331 esv2667993 1 28094221 28096018 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5975750 S 1151 0 1 "" NA19835 nsv509069 1 28143971 28232467 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 28179214 28182030 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626325 S 1 0 1 "" 1 nsv871591 1 28187716 28282292 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 28200562 28201496 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179319 M 24 C1orf38 nsv870553 1 28203653 28240648 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 28204691 28204969 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625353 S 1 1 0 C1orf38 1 nsv871458 1 28209366 28267869 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 28247621 28248290 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647745 S 1 0 1 "" NA18507 esv3840 1 28247722 28248170 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26281 S 1 0 1 Single Asian sample YH "" YH esv2745796 1 28247777 28248156 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6707279,essv6747794,essv6769536,essv6967945,essv6836202,essv6797462,essv6759062,essv6710603,essv6946512,essv6950579,essv6669354,essv6954768,essv6906109,essv6916852,essv6725859,essv6773449,essv6887486,essv6668974,essv6744949,essv6801629,essv6925702,essv6937697,essv6780889,essv6868725,essv6921741,essv6738822,essv6722018,essv6776950,essv6703874,essv6695787,essv6750617,essv6832612,essv6902554,essv6910063,essv6733495,essv6735984,essv6766561,essv6816832,essv6917449,essv6802487,essv6933323,essv6689275,essv6793307,essv6753508,essv6692785,essv6972371,essv6813181,essv6839990,essv6714260,essv6810347,essv6785006,essv6895856,essv6914008,essv6789169,essv6699606,essv6816601,essv6950340,essv6748564,essv6764174,essv6729640,essv6682840,essv6843903,essv6719031,essv6929068,essv6742156,essv6871729,essv6961579,essv6675214,essv6847039,essv6804412,essv6859205,essv6941800,essv6807384 M 96 0 73 "" SSM001,SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM008,SSM010,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM034,SSM036,SSM037,SSM039,SSM040,SSM041,SSM042,SSM043,SSM045,SSM046,SSM047,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM057,SSM058,SSM061,SSM063,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM082,SSM083,SSM084,SSM085,SSM086,SSM088,SSM090,SSM091,SSM099 esv6007 1 28247804 28248122 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28448 S 1 0 1 "" SJK esv1132135 1 28247807 28248116 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106955 S 2 0 1 "" HuRef esv2255639 1 28327785 28328232 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919567 S 1 0 1 EYA3 NA18507 esv2641492 1 28327956 28328055 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244068 S 1 0 1 EYA3 NA18507 nsv871151 1 28432549 28639893 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 esv2665172 1 28445900 28448371 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6553486 S 1151 0 1 "" HG00281 esv2671570 1 28457852 28458534 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6521150,essv6265668,essv6279414 M 1151 0 3 "" HG00732,HG01055,HG01072 esv2678105 1 28472036 28475736 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6176068 S 1151 0 1 PTAFR NA19009 nsv7546 1 28492212 28509966 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 esv2674175 1 28551345 28554060 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5518849,essv6108476,essv5908178,essv6273074,essv6216120,essv6140953,essv6559029,essv5764259,essv6532214,essv6381390,essv5931775,essv5617150,essv5754896,essv5727964,essv5920560,essv5628829,essv5639784,essv5916020,essv5663258,essv5678681,essv6150745,essv5893505,essv6450521,essv5835053,essv6039336,essv6389834,essv6165694,essv5784064,essv5703707,essv5690757,essv5437382,essv5442852,essv5456362,essv5679754,essv5679307,essv6147927,essv5498108,essv6525251 M 1151 0 38 DNAJC8 HG00173,HG00180,HG00245,HG00312,HG00323,HG00342,HG01107,HG01204,HG01354,HG01465,NA07051,NA11930,NA11994,NA12383,NA12546,NA18519,NA18856,NA18917,NA18923,NA19312,NA19313,NA19331,NA19334,NA19463,NA19648,NA19700,NA19711,NA19755,NA19780,NA19901,NA20294,NA20503,NA20529,NA20543,NA20586,NA20770,NA20807,NA20816 dgv208n71 1 28564279 28826341 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871033,nsv871702 M 6533 2 0 ATPIF1,MED18,PHACTR4,SESN2 IS32843,MS16060 nsv819729 1 28564466 28572232 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 28597404 28607470 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 28621066 28622571 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173712 S 1 0 1 "" NA18507 esv1987510 1 28621432 28621852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722951 S 1 0 1 "" NA18507 esv2745808 1 28621541 28621903 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6773450,essv6756563 M 96 0 2 "" SSM059,SSM066 nsv870624 1 28638259 28774148 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 28653097 28654894 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 28663633 28695510 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 28707803 28738632 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 esv2657760 1 28833990 28835181 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5915835,essv6313218,essv5961619,essv6131820,essv5837648,essv6254550,essv5630402,essv6501840,essv5752110,essv6388223,essv5400589,essv6598125,essv5409692,essv5507069,essv5724691 M 1151 0 15 RCC1,SNHG3 HG00179,HG00244,HG00321,HG00330,HG00344,HG00353,HG00732,HG01055,HG01072,HG01167,NA11829,NA12286,NA12340,NA12748,NA20792 dgv34e199 1 28900625 28902609 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2676168,esv2666765 M 1151 0 1 TRNAU1AP HG00701 esv2671121 1 28906067 28906414 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6295781,essv6334657,essv6479047,essv6006760,essv6383136 M 1151 0 5 SNHG12,SNORA61 NA18861,NA19391,NA19394,NA19704,NA19917 esv2745819 1 28912360 28912588 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6824994,essv6703875 M 96 0 2 "" SSM040,SSM080 nsv506924 1 28934592 28940592 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 28938187 28947611 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 28949968 28955683 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439451 S 31 0 1 TAF12 NA18537 esv2660216 1 28957474 28960912 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6570317,essv5940228,essv5876413 M 1151 0 3 TAF12 NA20334,NA20336,NA20795 esv2665007 1 28959492 28961682 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5645809 S 1151 0 1 TAF12 HG00513 esv27154 1 29008566 29009882 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 29053051 29081927 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 29077612 29079870 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178843 M 24 YTHDF2 esv2745830 1 29091064 29091225 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6832613 S 96 0 1 YTHDF2 SSM082 dgv3n21 1 29107895 29145188 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525553,nsv517547 M 2026 0 3 OPRD1 nsv460928 1 29107895 29166138 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537404 S 1557 0 1 OPRD1 1782681216_A nsv519203 1 29107895 29175373 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696691 S 2026 1 0 OPRD1 nsv871326 1 29128551 29203907 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 29138975 29145188 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701417 S 2026 0 1 OPRD1 esv2745841 1 29147691 29147956 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6753510 S 96 0 1 OPRD1 SSM058 esv2672867 1 29227581 29227903 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6014491,essv6030678,essv5522869,essv6129564,essv6082205,essv6049761,essv5531163,essv5531363,essv6540514,essv5533653,essv6242058,essv5984519,essv5552749,essv6238343,essv5565404,essv6394874,essv5575812,essv5922160,essv6205028,essv6191546,essv5584720,essv6554226,essv6021947,essv5762975,essv6386247,essv5606181,essv5606895,essv5886548,essv6234105,essv5618748,essv5877077,essv5961717,essv6363802,essv5764386,essv6507222,essv6006292,essv5631079,essv6293536,essv6005302,essv5718745,essv6371757,essv6277831,essv6192948,essv5657689,essv5930904,essv6286029,essv5830510,essv5671612,essv5950842,essv5806516,essv5792199,essv5817506,essv5992880,essv6418293,essv6202845,essv6556148,essv6409465,essv6146383,essv5808973,essv6111797,essv5672666,essv5712179,essv6242358,essv6139128,essv6100058,essv5664325,essv6419718,essv5706623,essv6187150,essv5975363,essv5938813,essv5804329,essv6245436,essv6180839,essv5413675,essv5415766,essv6511944,essv6189990,essv6115245,essv6269717,essv5695657,essv5434848,essv6237082,essv5435499,essv6424967,essv5769253,essv5860896,essv5441281,essv5445145,essv6047438,essv6556286,essv6478113,essv5464878,essv6212039,essv5474064,essv5686508,essv5478397,essv6240431,essv6220207,essv6045680,essv5973830,essv6060390,essv6062309,essv5494808,essv5498562,essv6479288,essv6403531,essv6051765,essv6475220,essv5503366,essv6242722,essv5886200,essv5772342 M 1151 0 113 EPB41 HG00096,HG00111,HG00154,HG00157,HG00176,HG00179,HG00265,HG00274,HG00277,HG00318,HG00321,HG00328,HG00337,HG00338,HG00346,HG00418,HG00419,HG00427,HG00428,HG00448,HG00472,HG00478,HG00500,HG00513,HG00533,HG00534,HG00537,HG00543,HG00565,HG00566,HG00581,HG00589,HG00607,HG00608,HG00619,HG00620,HG00638,HG00650,HG00651,HG00654,HG00662,HG00663,HG00672,HG00683,HG00689,HG00690,HG00693,HG00698,HG00699,HG00704,HG00705,HG00707,HG00708,HG00732,HG00734,HG00739,HG01069,HG01073,HG01080,HG01082,HG01113,HG01124,HG01171,HG01183,HG01187,HG01188,HG01197,HG01254,HG01342,HG01374,HG01378,HG01551,NA07056,NA18530,NA18542,NA18543,NA18546,NA18549,NA18557,NA18559,NA18562,NA18566,NA18571,NA18577,NA18597,NA18617,NA18618,NA18620,NA18622,NA18623,NA18624,NA18628,NA18633,NA18950,NA18956,NA18963,NA18977,NA18985,NA19082,NA19087,NA19130,NA19355,NA19379,NA19385,NA19404,NA19670,NA19719,NA19770,NA20126,NA20314,NA20506,NA20801,NA20819 esv2673135 1 29263935 29265121 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5662887 S 1151 0 1 EPB41 NA18552 nsv511687 1 29304288 29306446 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626326 S 1 0 1 EPB41 1 esv25713 1 29304427 29306310 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 esv2745852 1 29304434 29306135 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972375 S 96 0 1 EPB41 SSM029 esv2670595 1 29304451 29306209 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6246310,essv5906413,essv5559875,essv6387264,essv5583618,essv6233067,essv5912226,essv6463801,essv6087254,essv5980330,essv6460097,essv5642496,essv5732508,essv5658047,essv6182760,essv6328030,essv5904087,essv5990446,essv6167765,essv6352559,essv5922813 M 1151 0 21 EPB41 HG00115,HG01069,HG01108,HG01125,NA18517,NA18858,NA18933,NA19130,NA19197,NA19350,NA19393,NA19403,NA19435,NA19440,NA19455,NA19456,NA19468,NA19472,NA19651,NA19707,NA20778 nsv7579 1 29347461 29392105 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 29429732 29490411 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 esv2745863 1 29440959 29441829 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6950351 S 96 0 1 EPB41 SSM004 nsv871249 1 29542637 29670241 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 29561997 29565391 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433414 S 31 1 0 PTPRU NA18526 nsv834546 1 29572282 29760301 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 29736216 29794247 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558427 S 6533 1 0 "" MS23257 nsv7590 1 29836316 29867893 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 29845254 29845254 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292225 S 2 1 0 "" HuRef esv2513036 1 29845255 29845330 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332447 S 1 0 1 "" NA18507 esv2745874 1 29860026 29860243 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6880427 S 96 0 1 "" SSM094 esv2745885 1 29861580 29862134 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6880428 S 96 0 1 "" SSM094 esv271099 1 29862372 29862675 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 esv2745896 1 29863003 29863162 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6722019 S 96 0 1 "" SSM045 nsv870907 1 29870454 30171995 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589574 S 6533 1 0 "" IS38384 esv2665600 1 30030063 30030359 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6418033,essv6354229,essv6475090,essv6041150,essv6427709,essv5535120,essv6407389,essv5957883,essv6552465,essv5992165,essv6407078,essv6327709,essv6572283,essv6218310,essv6394269,essv5942592,essv6400125,essv6334438,essv6596038,essv5555170,essv6478127,essv5831166,essv6543811,essv5563387,essv6414944,essv5573185,essv6572089,essv5577078,essv6486343,essv5582285,essv6389536,essv6201234,essv6443043,essv6356017,essv6421142,essv5833543,essv6418988,essv5603640,essv6490860,essv5925316,essv6390778,essv6342344,essv5625167,essv5626585,essv5632347,essv5728220,essv6271783,essv5918376,essv6028032,essv6272609,essv6244095,essv5826926,essv6165030,essv5959224,essv5722367,essv5803148,essv5741762,essv6024370,essv6102544,essv5801771,essv5916873,essv6039147,essv6035639,essv5395635,essv6083447,essv5420909,essv5850666,essv5693378,essv5431178,essv6126622,essv6133799,essv5454502,essv6300127,essv5771602,essv6224667,essv6024496,essv6016694,essv5682306,essv5488020,essv6135054,essv5919324,essv6123789,essv5503733,essv5945894,essv5510926 M 1151 0 85 "" HG00133,HG00158,HG00178,HG00181,HG00237,HG00244,HG00251,HG00252,HG00260,HG00265,HG00267,HG00273,HG00280,HG00282,HG00327,HG00328,HG00331,HG00336,HG00353,HG00421,HG00556,HG00559,HG00589,HG00590,HG00693,HG00705,HG01048,HG01052,HG01069,HG01095,HG01113,HG01124,HG01137,HG01171,HG01350,HG01359,HG01375,HG01441,HG01461,HG01498,NA07346,NA11881,NA11994,NA12155,NA12272,NA18510,NA18523,NA18560,NA18592,NA18612,NA18621,NA18923,NA18987,NA19005,NA19129,NA19138,NA19197,NA19225,NA19328,NA19347,NA19359,NA19360,NA19396,NA19397,NA19437,NA19448,NA19452,NA19457,NA19625,NA19655,NA19657,NA19682,NA19720,NA19722,NA19747,NA19774,NA19777,NA19786,NA19818,NA19908,NA19909,NA20276,NA20346,NA20519,NA20542 esv2745907 1 30030078 30030338 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6810348,essv6961580 M 96 0 2 "" SSM027,SSM076 dgv4n21 1 30133502 30134671 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv526370,nsv521489 M 2026 2 0 "" esv1005469 1 30134717 30140295 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 esv2674868 1 30144265 30149272 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5673754 S 1151 0 1 "" HG00704 esv1779209 1 30151031 30151082 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956446 S 2 0 1 "" HuRef esv2745919 1 30151069 30151285 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6967946,essv6917450,essv6666911,essv6910064 M 96 0 4 "" SSM015,SSM017,SSM028,SSM030 esv2660718 1 30154856 30167410 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6098735 S 1151 0 1 "" HG00704 nsv7601 1 30158069 30184948 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2014 S 9 1 0 "" NA18555 dgv35e199 1 30167185 30979742 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2668677,esv2657775 M 1151 0 20 "" NA06986,NA11931,NA12763,NA18498,NA18505,NA18508,NA18517,NA18522,NA18563,NA18592,NA18603,NA18861,NA18952,NA18964,NA18965,NA19093,NA19129,NA19137,NA19238,NA20798 nsv509102 1 30172906 30237727 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 esv2674445 1 30173006 30173965 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5835052 S 1151 0 1 "" NA20510 esv2667679 1 30199947 30204111 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5533652,essv5743800,essv5617419 M 1151 0 3 "" NA19347,NA19373,NA19446 esv2667432 1 30203295 30203522 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6307949 S 1151 0 1 "" NA11919 esv1170546 1 30244159 30244159 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038385 S 2 1 0 "" HuRef esv1184465 1 30244213 30244213 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058687 S 2 1 0 "" HuRef nsv870789 1 30259725 30687128 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589575 S 6533 1 0 "" IS38384 esv2745930 1 30297869 30298383 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972376 S 96 0 1 "" SSM029 esv2745941 1 30332221 30332373 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972377 S 96 0 1 "" SSM029 esv8236 1 30345277 30346044 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30677 S 1 0 1 "" SJK nsv460951 1 30368883 30402968 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 30380590 30425525 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 30420265 30431564 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 30426443 30458952 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6516 S 9 1 0 "" NA12156 esv2675584 1 30435742 30436238 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6143611,essv6179235,essv5950890,essv5564127,essv6074480,essv5908213,essv6162133,essv6174481,essv5637643,essv5641497,essv5648390,essv6319498,essv6159144,essv5415213,essv6474833,essv5429947,essv6048763,essv5873911 M 1151 0 18 "" HG00418,HG00437,HG00443,HG00448,HG00449,HG00635,HG00656,HG00657,HG00702,HG00708,HG01492,NA18543,NA18550,NA18612,NA18623,NA19004,NA19007,NA19079 esv2745952 1 30435870 30436210 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6714261,essv6880429,essv6929069,essv6847040 M 96 0 4 "" SSM020,SSM043,SSM086,SSM094 esv2669879 1 30479703 30489418 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5412750 S 1151 0 1 "" NA20814 nsv515814 1 30486128 30488340 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 30531928 30532743 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 30532106 30553084 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 30588483 30768412 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444429 S 95 1 0 "" esv2664002 1 30617800 30621472 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6239715 S 1151 0 1 "" HG00146 esv2745963 1 30657006 30657666 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6769537,essv6967947,essv6950580,essv6744950,essv6802598,essv6750618,essv6776951,essv6816602,essv6843904,essv6756564 M 96 0 10 "" SSM002,SSM025,SSM028,SSM055,SSM057,SSM059,SSM065,SSM067,SSM078,SSM085 esv2072629 1 30664117 30664597 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969544 S 1 0 1 "" NA18507 esv2670310 1 30664336 30664461 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5525864,essv5788758,essv5548242,essv6437358,essv6017853,essv6313573,essv5614862,essv6285005,essv5629940,essv5825895,essv6417923,essv6022071,essv6340256,essv6462891,essv6096537,essv6194573,essv5702329,essv6496701,essv6232740,essv5701939,essv6044842,essv5849194,essv5423952,essv6127057,essv5464240,essv5469738,essv6480901,essv6525482,essv6513982 M 1151 0 29 "" HG01061,HG01066,HG01069,HG01101,HG01108,HG01183,HG01353,HG01365,HG01390,NA18502,NA18505,NA18522,NA18523,NA18934,NA19138,NA19147,NA19225,NA19374,NA19381,NA19382,NA19391,NA19397,NA19403,NA19404,NA19428,NA19457,NA19774,NA20126,NA20127 nsv870535 1 30669469 30749555 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558428 S 6533 1 0 "" MS23257 esv29671 1 30688669 30693813 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 30706335 30741656 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 30711813 30777089 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580216 S 6533 0 1 "" IS35244 esv2745974 1 30731497 30732866 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6797463,essv6710604,essv6950581,essv6916863,essv6972378,essv6914009,essv6699607,essv6929070 M 96 0 8 "" SSM003,SSM016,SSM020,SSM025,SSM029,SSM039,SSM042,SSM072 esv2745985 1 30731543 30732043 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6797463,essv6950581,essv6710604,essv6916863,essv6914009,essv6699607,essv6929070 M 96 0 7 "" SSM003,SSM016,SSM020,SSM025,SSM039,SSM042,SSM072 esv2745996 1 30731668 30731798 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6950581,essv6710604,essv6699607 M 96 0 3 "" SSM025,SSM039,SSM042 essv23694 1 30737373 30739796 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 30738408 30740073 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 30738432 30741496 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 30738470 30740479 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 esv2675865 1 30738620 30739931 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5524451,essv5733258,essv5901551,essv5537674,essv5887650,essv5543494,essv6475298,essv6022636,essv5558999,essv6342232,essv5822600,essv5998682,essv5763962,essv5839362,essv6504263,essv5949909,essv5736656,essv6074649,essv5717708,essv6488049,essv5643744,essv5645509,essv5656502,essv6290120,essv6534969,essv6395886,essv5789593,essv6335106,essv6271249,essv5887609,essv6143984,essv6356858,essv5973992,essv6539994,essv6437617,essv5949356,essv5794715,essv6128137,essv5808381,essv6033406,essv6245806,essv6272745,essv5415005,essv6598025,essv6419819,essv6419194,essv5435823,essv6166636,essv6342487,essv6287591,essv5868649,essv6454298,essv5871421,essv6245571,essv5723861,essv5716074,essv6166088,essv6144852,essv6418142,essv5504133,essv5504198,essv6065645 M 1151 0 62 "" HG00103,HG00112,HG00115,HG00137,HG00140,HG00150,HG00158,HG00186,HG00187,HG00189,HG00233,HG00245,HG00247,HG00250,HG00253,HG00257,HG00261,HG00312,HG00321,HG00326,HG00334,HG00335,HG00372,HG00739,HG01047,HG01060,HG01197,HG01354,HG01492,NA07048,NA07051,NA07056,NA11920,NA11932,NA12044,NA12155,NA12249,NA12399,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12778,NA12813,NA12830,NA12889,NA12892,NA19652,NA19780,NA19819,NA20521,NA20534,NA20538,NA20753,NA20761,NA20770,NA20796,NA20801,NA20815,NA20819 esv2746007 1 30758895 31134982 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6714262,essv6769538,essv6719065,essv6895857,essv6797466,essv6719054,essv6797465,essv6759063,essv6669365,essv6710605,essv6954769,essv6967949,essv6967948,essv6725860,essv6666912,essv6785007,essv6773451,essv6744951,essv6898621,essv6868727,essv6868726,essv6925703,essv6877675,essv6933324,essv6793308,essv6692788,essv6692786,essv6880432,essv6880430,essv6972379,essv6917452,essv6719043,essv6914011,essv6914010,essv6699608,essv6789171,essv6789170,essv6729641,essv6748575,essv6682841,essv6843905,essv6929071,essv6929072,essv6871730,essv6941802,essv6941801,essv6859206 M 96 0 36 "" SSM005,SSM007,SSM008,SSM016,SSM017,SSM019,SSM020,SSM021,SSM023,SSM026,SSM028,SSM029,SSM030,SSM034,SSM037,SSM039,SSM042,SSM043,SSM046,SSM047,SSM055,SSM061,SSM065,SSM066,SSM069,SSM070,SSM071,SSM072,SSM085,SSM088,SSM090,SSM091,SSM093,SSM094,SSM099,SSM100 dgv36e199 1 30758914 31134922 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2677487,esv2662099 M 1151 0 3 "" HG00249,HG01061,NA11843 nsv7646 1 30772246 30806392 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 30773957 30774557 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 30778063 30932356 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444440 S 95 1 0 "" esv2746018 1 30832599 30833243 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6895857,essv6898621 M 96 0 2 "" SSM099,SSM100 nsv871498 1 30844120 30873469 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 30863991 30882269 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 30871576 30883029 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 30878514 30878815 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586152 S 9 1 0 "" esv2214908 1 30882377 30882797 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593443 S 1 0 1 "" NA18507 nsv7668 1 30888346 30933633 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 30892637 31054759 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444451 S 95 0 1 "" esv2660539 1 30947122 30950772 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6276564 S 1151 0 1 "" NA20519 esv2668913 1 30961080 30961377 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6144916 S 1151 0 1 "" HG00261 nsv520401 1 30980786 30985651 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697394 S 2026 0 1 "" esv2746031 1 30988313 30988798 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6773451 S 96 0 1 "" SSM066 esv8551 1 31033842 31034052 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30992 S 1 0 0 "" SJK esv2746042 1 31040642 31041648 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6719043,essv6797465,essv6710605,essv6793308,essv6669365,essv6666912,essv6868726,essv6880430,essv6843905,essv6929071 M 96 0 10 "" SSM005,SSM007,SSM020,SSM030,SSM042,SSM071,SSM072,SSM085,SSM090,SSM094 esv2668966 1 31040644 31041659 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6565150,essv6454820,essv6533239,essv6220219,essv6541394,essv6347134,essv6570490,essv6004933,essv6553784,essv5519157,essv6556984,essv6431664,essv6534048,essv5898240,essv6588658,essv6300276,essv6531043,essv6436199,essv6541961,essv5788619,essv6579895,essv6323510,essv6594898,essv6023603,essv6292025,essv6268982,essv6382873,essv6320464,essv5538304,essv5538494,essv5946538,essv5799176,essv5785613,essv5543568,essv6449854,essv5545927,essv5548346,essv6376997,essv5930011,essv5910462,essv5556791,essv6426669,essv5558787,essv6489983,essv5940462,essv5806212,essv5565988,essv5568548,essv5998689,essv6136140,essv6328452,essv6191543,essv6486396,essv5876210,essv5589510,essv5594132,essv6288300,essv6045527,essv6190409,essv6241655,essv6366415,essv5891421,essv6442156,essv6447705,essv6216299,essv6244662,essv5823372,essv5622572,essv5624410,essv6506278,essv5626746,essv5629234,essv5629300,essv5630182,essv5632927,essv5638780,essv6291535,essv6415892,essv6342795,essv6304813,essv5998744,essv5786736,essv5645182,essv5646999,essv6085502,essv6013602,essv6489163,essv5652588,essv6332289,essv5656230,essv5659770,essv5833114,essv5965147,essv6202847,essv5819873,essv6428950,essv6468651,essv6315119,essv6476361,essv5927099,essv5885856,essv6228237,essv6203169,essv6371174,essv5830524,essv5709028,essv6425261,essv6309470,essv5973146,essv6004087,essv6332020,essv6102901,essv5877871,essv6116203,essv5785713,essv6000385,essv5759709,essv6025784,essv6313097,essv5699935,essv5999608,essv5702566,essv5403914,essv6265484,essv5405777,essv6405173,essv6072411,essv5776128,essv6483571,essv5411518,essv6186719,essv5412711,essv5414156,essv5725891,essv6098833,essv5418422,essv5691540,essv5423860,essv5849524,essv6144002,essv5426477,essv5690200,essv5427276,essv6067028,essv5775115,essv5860228,essv5434636,essv6481510,essv5435970,essv6044624,essv5859159,essv6204081,essv5861367,essv5861424,essv5443989,essv6309493,essv6205869,essv5732806,essv6429210,essv6119520,essv6081967,essv6341091,essv5872921,essv6457202,essv5463993,essv5465940,essv6321330,essv6242497,essv6045328,essv5474306,essv6244294,essv5484693,essv5720222,essv5486753,essv6242903,essv5488972,essv5760866,essv6051064,essv5497517,essv5500420,essv5500463,essv5500955,essv5731126,essv5506893,essv5673797,essv5510877 M 1151 0 186 "" HG00111,HG00112,HG00143,HG00176,HG00178,HG00189,HG00271,HG00284,HG00312,HG00321,HG00330,HG00344,HG00357,HG00373,HG00419,HG00428,HG00472,HG00537,HG00543,HG00554,HG00559,HG00566,HG00577,HG00578,HG00581,HG00608,HG00613,HG00634,HG00635,HG00637,HG00650,HG00654,HG00657,HG00672,HG00693,HG00701,HG00702,HG00705,HG00707,HG01048,HG01067,HG01069,HG01075,HG01101,HG01108,HG01365,HG01390,NA12749,NA18498,NA18499,NA18504,NA18505,NA18519,NA18522,NA18523,NA18535,NA18539,NA18545,NA18546,NA18548,NA18550,NA18555,NA18557,NA18558,NA18562,NA18563,NA18566,NA18567,NA18572,NA18574,NA18576,NA18596,NA18605,NA18606,NA18608,NA18609,NA18610,NA18613,NA18618,NA18620,NA18622,NA18624,NA18626,NA18853,NA18858,NA18870,NA18874,NA18908,NA18934,NA18941,NA18944,NA18948,NA18950,NA18963,NA18980,NA18984,NA18985,NA18990,NA19000,NA19007,NA19055,NA19056,NA19059,NA19064,NA19067,NA19077,NA19078,NA19080,NA19083,NA19085,NA19088,NA19093,NA19099,NA19108,NA19116,NA19137,NA19172,NA19223,NA19235,NA19236,NA19238,NA19239,NA19240,NA19248,NA19256,NA19312,NA19316,NA19347,NA19350,NA19371,NA19372,NA19374,NA19379,NA19380,NA19382,NA19390,NA19393,NA19394,NA19404,NA19430,NA19431,NA19436,NA19439,NA19440,NA19445,NA19446,NA19449,NA19451,NA19452,NA19453,NA19456,NA19457,NA19461,NA19466,NA19467,NA19471,NA19472,NA19625,NA19660,NA19685,NA19700,NA19701,NA19711,NA19713,NA19725,NA19780,NA19789,NA19818,NA19819,NA19834,NA19835,NA19901,NA19908,NA19916,NA19917,NA19921,NA20296,NA20527,NA20533,NA20541,NA20586,NA20760,NA20787,NA20795,NA20811,NA20818 esv6950 1 31040656 31041663 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29391 S 1 0 1 "" SJK esv2746053 1 31066591 31067388 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972379,essv6789170,essv6748575,essv6941801 M 96 0 4 "" SSM008,SSM023,SSM029,SSM070 esv2746064 1 31066955 31067341 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6789170,essv6941801 M 96 0 2 "" SSM023,SSM070 esv2746075 1 31067025 31067169 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6941801 S 96 0 1 "" SSM023 esv2746086 1 31082289 31083175 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6719054,essv6759063,essv6744951,essv6933324,essv6914010,essv6871730,essv6929072 M 96 0 7 "" SSM007,SSM016,SSM020,SSM021,SSM055,SSM061,SSM091 nsv871762 1 31096980 31148956 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558429 S 6533 1 0 "" MS23257 nsv7679 1 31107924 31141556 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 esv2675313 1 31113480 31116605 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6154418 S 1151 0 1 "" NA20522 nsv460995 1 31113723 31272051 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 esv2746097 1 31122686 31124389 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6785007,essv6797466,essv6967948,essv6725860,essv6714262,essv6868727,essv6692786,essv6925703,essv6880432,essv6699608,essv6789171,essv6682841,essv6729641 M 96 0 13 "" SSM019,SSM028,SSM034,SSM037,SSM039,SSM043,SSM046,SSM047,SSM069,SSM070,SSM072,SSM090,SSM094 esv6869 1 31122721 31124612 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29310 S 1 0 1 "" SJK esv24111 1 31124288 31124783 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 31124589 31124589 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283188 S 2 1 0 "" HuRef esv2746108 1 31127855 31128669 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6769538,essv6967949,essv6692788,essv6877675,essv6954769,essv6914011,essv6941802,essv6859206 M 96 0 8 "" SSM016,SSM023,SSM026,SSM028,SSM037,SSM065,SSM088,SSM093 esv2746119 1 31127950 31128335 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6954769,essv6967949,essv6692788,essv6941802,essv6859206 M 96 0 5 "" SSM023,SSM026,SSM028,SSM037,SSM088 esv2746130 1 31128077 31128208 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6954769,essv6859206 M 96 0 2 "" SSM026,SSM088 nsv512730 1 31128287 31128619 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625356 S 1 1 0 "" 1 esv2746142 1 31155697 31166035 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6699609,essv6885992 M 96 0 2 "" SSM039,SSM096 nsv871304 1 31167561 31238496 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 esv2656546 1 31169519 31171884 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6113791,essv5586299,essv6332223,essv5841656,essv6074816,essv5612857,essv6562708,essv5628809,essv6175794,essv5648646,essv6416122,essv5659778,essv6075996,essv6030102,essv6403387,essv5779664,essv6126681,essv5903354,essv6314283,essv5397852,essv6343059,essv5692088,essv6245055,essv5854634,essv5476416,essv5496188,essv5500377 M 1151 0 27 "" HG01080,HG01190,NA12891,NA18516,NA18557,NA18853,NA18868,NA18871,NA18907,NA18934,NA18953,NA19116,NA19130,NA19172,NA19201,NA19213,NA19236,NA19239,NA19240,NA19355,NA19374,NA19376,NA19443,NA19461,NA19470,NA19700,NA19901 esv26125 1 31169654 31171814 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 31183457 31232553 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 31203098 31205040 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 31205135 31205374 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625357 S 1 1 0 LAPTM5 1 nsv7690 1 31232350 31263356 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5460 S 9 1 0 "" NA19129 esv2746153 1 31244155 31245135 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6669377,essv6769539,essv6747795,essv6759064,essv6710606,essv6967950,essv6916874,essv6666913,essv6668975,essv6773452,essv6801630,essv6714263,essv6738823,essv6703877,essv6692789,essv6695798,essv6921742,essv6816843,essv6750619,essv6910065,essv6735985,essv6753511,essv6776952,essv6733496,essv6972380,essv6898597,essv6766562,essv6877009,essv6902555,essv6689276,essv6813182,essv6839991,essv6961581,essv6914012,essv6853257,essv6793309,essv6925704,essv6829026,essv6789172,essv6816603,essv6863971,essv6742157,essv6748586,essv6729643,essv6843906,essv6929073,essv6784787,essv6756566,essv6804413,essv6950362 M 96 0 50 "" SSM001,SSM003,SSM004,SSM005,SSM006,SSM008,SSM009,SSM010,SSM012,SSM013,SSM015,SSM016,SSM018,SSM019,SSM020,SSM027,SSM028,SSM029,SSM030,SSM031,SSM036,SSM037,SSM040,SSM042,SSM043,SSM047,SSM049,SSM050,SSM052,SSM053,SSM056,SSM057,SSM058,SSM059,SSM061,SSM064,SSM065,SSM066,SSM067,SSM070,SSM071,SSM073,SSM074,SSM077,SSM078,SSM081,SSM084,SSM085,SSM087,SSM089 esv1920491 1 31244478 31244868 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4835916 S 1 0 1 "" NA18507 esv2746164 1 31244564 31244672 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668975,essv6863971 M 96 0 2 "" SSM031,SSM089 nsv160695 1 31244571 31244662 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179273 M 24 "" esv1626816 1 31244661 31244755 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654771 S 2 0 1 "" HuRef nsv159749 1 31244662 31244755 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178327 M 24 "" esv2746175 1 31244671 31244881 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6853257 S 96 0 1 "" SSM087 nsv159205 1 31246007 31246007 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177783 M 24 "" esv2746186 1 31246075 31246220 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6769540,essv6780890,essv6892331,essv6929075,essv6941803 M 96 0 5 "" SSM020,SSM023,SSM065,SSM068,SSM098 esv2746197 1 31248586 31249647 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961582,essv6769541,essv6797467,essv6821196,essv6972381,essv6916885,essv6773454,essv6816854,essv6738824,essv6885993,essv6750621,essv6950374,essv6853258,essv6742158,essv6802709,essv6843907,essv6954770,essv6686163,essv6675215 M 96 0 19 "" SSM002,SSM003,SSM004,SSM010,SSM026,SSM027,SSM029,SSM032,SSM035,SSM052,SSM053,SSM057,SSM065,SSM066,SSM072,SSM079,SSM085,SSM087,SSM096 esv2746208 1 31249003 31249492 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961582,essv6769541,essv6797467,essv6821196,essv6916885,essv6773454,essv6738824,essv6750621,essv6885993,essv6950374,essv6954770,essv6853258,essv6742158,essv6686163,essv6843907,essv6675215 M 96 0 16 "" SSM003,SSM004,SSM026,SSM027,SSM032,SSM035,SSM052,SSM053,SSM057,SSM065,SSM066,SSM072,SSM079,SSM085,SSM087,SSM096 esv4431 1 31249037 31249527 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26872 S 1 0 1 Single Asian sample YH "" YH esv2746219 1 31249114 31249326 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6797467,essv6821196,essv6916885,essv6773454,essv6954770,essv6885993,essv6950374,essv6686163,essv6675215 M 96 0 9 "" SSM003,SSM004,SSM026,SSM032,SSM035,SSM066,SSM072,SSM079,SSM096 esv1377768 1 31249153 31249224 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095672 S 2 0 1 "" HuRef esv2746230 1 31268348 31268728 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6797468,essv6836203,essv6946513,essv6950385,essv6689278,essv6793311 M 96 0 6 "" SSM004,SSM024,SSM036,SSM071,SSM072,SSM083 esv2746241 1 31335968 31336244 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6747796,essv6761870 M 96 0 2 "" SSM056,SSM062 nsv519204 1 31337417 31402148 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696692 S 2026 1 0 SDC3 nsv461006 1 31347320 31375569 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 31362224 31417458 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 esv2746253 1 31366491 31367783 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6719076,essv6916896,essv6961583,essv6797469,essv6874721,essv6950582,essv6967951,essv6917453,essv6714264,essv6668976,essv6722020,essv6780891,essv6937698,essv6824995,essv6785008,essv6703878,essv6883266,essv6910066,essv6692790,essv6776953,essv6877020,essv6689279,essv6839992,essv6972382,essv6853259,essv6699611,essv6789173,essv6718174,essv6793312,essv6863972,essv6729644,essv6748599,essv6871732,essv6675216,essv6843908,essv6925705,essv6929076,essv6954771,essv6941804,essv6847041 M 96 0 40 SDC3 SSM003,SSM007,SSM008,SSM012,SSM015,SSM017,SSM019,SSM020,SSM022,SSM023,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM036,SSM037,SSM039,SSM040,SSM043,SSM044,SSM045,SSM047,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM080,SSM084,SSM085,SSM086,SSM087,SSM089,SSM091,SSM092,SSM095 esv2746264 1 31367124 31367817 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6714264,essv6785008,essv6950582,essv6961583,essv6874721,essv6797469,essv6719076,essv6916896,essv6967951,essv6722020,essv6917453,essv6668976,essv6780891,essv6816865,essv6937698,essv6824995,essv6703878,essv6776953,essv6692790,essv6910066,essv6883266,essv6877020,essv6689279,essv6839992,essv6853259,essv6699611,essv6789173,essv6829027,essv6793312,essv6718174,essv6863972,essv6902556,essv6729644,essv6843908,essv6925705,essv6929076,essv6941804,essv6675216,essv6871732,essv6847041,essv6859207,essv6954771 M 96 0 42 SDC3 SSM003,SSM007,SSM010,SSM012,SSM013,SSM015,SSM017,SSM019,SSM020,SSM022,SSM023,SSM025,SSM026,SSM027,SSM028,SSM031,SSM032,SSM036,SSM037,SSM039,SSM040,SSM043,SSM044,SSM045,SSM047,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM080,SSM081,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM091,SSM092,SSM095 esv2244846 1 31367289 31367731 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4651898 S 1 0 1 SDC3 NA18507 nsv160596 1 31367381 31367445 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179174 M 24 SDC3 esv2746275 1 31367421 31367512 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6675216 S 96 0 1 SDC3 SSM032 nsv160199 1 31367506 31367572 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178777 M 24 SDC3 esv2665407 1 31399299 31400013 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6553398,essv5816836,essv6410170,essv5559161,essv6425336,essv5613766,essv6584926,essv5623814,essv6522988,essv5768700,essv6460490,essv5880555,essv6365744,essv5886995,essv6413571,essv5414374,essv6365512,essv5418370,essv5857719,essv5691843,essv5772839,essv5483068 M 1151 0 22 "" HG00188,HG00325,HG00428,HG00443,HG00448,HG00475,HG00479,HG00536,HG00542,HG00559,HG00577,HG00654,HG00699,HG00701,HG00707,NA18550,NA18597,NA18599,NA18638,NA18940,NA18989,NA19067 esv2746286 1 31399359 31400071 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6769543,essv6801631,essv6776954,essv6753512,essv6686164,essv6761871 M 96 0 6 "" SSM035,SSM058,SSM062,SSM065,SSM067,SSM073 nsv7701 1 31438858 31468924 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 esv2746297 1 31470640 31470815 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6744952,essv6780892,essv6714267,essv6853260,essv6843910,essv6804414 M 96 0 6 PUM1 SSM043,SSM055,SSM068,SSM074,SSM085,SSM087 nsv506925 1 31471423 31477423 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 esv2661973 1 31514380 31515199 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6366898,essv6459551 M 1151 0 2 PUM1 NA19004,NA19078 esv2673927 1 31547341 31550766 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6290330 S 1151 0 1 "" NA18565 nsv508711 1 31558254 31665395 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 31574645 31575837 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11728 S 451 0 1 "" NA12878 esv2677324 1 31574928 31577364 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5616564,essv5989969,essv5975278,essv5721549,essv6553018,essv5483898 M 1151 0 6 "" HG00282,HG00367,HG01080,HG01101,NA11933,NA12413 nsv870772 1 31618766 31661921 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 31621415 31625389 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585894 S 1250 0 1 "" nsv870693 1 31673263 31714638 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 31676450 31678169 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179285 M 24 NKAIN1 dgv46e1 1 31682380 32466331 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 31696905 31697770 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 31719976 31723457 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 31719980 31721755 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438184,nssv1439453 M 31 0 2 "" NA18537,NA18592 esv2675442 1 31720005 31722524 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5823307,essv5529735,essv5554478,essv5569678,essv6180601,essv5677622,essv5731252,essv6510404,essv6070226,essv5810995,essv6001994,essv6416132,essv6366445,essv5792824,essv5813839,essv6107527,essv6039771,essv6266268,essv5440032,essv5460942,essv6463579,essv6485384 M 1151 0 22 "" HG00513,HG00543,HG00595,HG00611,HG00625,HG00689,NA18537,NA18549,NA18558,NA18561,NA18565,NA18592,NA18599,NA18608,NA18612,NA18618,NA18621,NA18941,NA18943,NA18953,NA18981,NA19081 esv2746308 1 31720136 31722531 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6695809,essv6877031,essv6729645 M 96 0 3 "" SSM006,SSM012,SSM047 esv1672561 1 31724900 31724900 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730001 S 2 1 0 "" HuRef nsv161067 1 31731974 31741142 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179645 M 24 SNRNP40 nsv10051 1 31734285 31737169 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 31818409 31818409 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776205 S 2 1 0 ZCCHC17 HuRef esv1003353 1 31842502 31849609 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 31855474 31857998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697507 S 2026 0 1 "" esv1538435 1 31859773 31860147 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880925 S 2 0 1 "" HuRef esv2746319 1 31860066 31860575 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836204,essv6679186,essv6941805 M 96 0 3 "" SSM023,SSM033,SSM083 esv2746330 1 31860392 31860708 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6769544,essv6961585,essv6669388,essv6950583,essv6725861,essv6967953,essv6889017,essv6714268,essv6744953,essv6801633,essv6921743,essv6776956,essv6703879,essv6733497,essv6750622,essv6892333,essv6902557,essv6863973,essv6929077,essv6697000 M 96 0 20 "" SSM005,SSM013,SSM018,SSM020,SSM025,SSM027,SSM028,SSM038,SSM040,SSM043,SSM046,SSM049,SSM055,SSM057,SSM065,SSM067,SSM073,SSM089,SSM097,SSM098 nsv7712 1 31887408 31915698 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 31893418 31945071 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 31903457 31904728 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 esv2746341 1 31904404 31905187 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6707280,essv6961586,essv6967954,essv6925709,essv6946514,essv6725862,essv6821197,essv6780893,essv6668978,essv6692791,essv6789174,essv6929078 M 96 0 12 SERINC2 SSM019,SSM020,SSM024,SSM027,SSM028,SSM031,SSM037,SSM041,SSM046,SSM068,SSM070,SSM079 esv21814 1 31904565 31905074 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 31904834 31904834 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979486 S 2 1 0 SERINC2 HuRef esv2746352 1 31904877 31905061 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6707280 S 96 0 1 SERINC2 SSM041 esv1676191 1 31904984 31904984 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990095 S 2 1 0 SERINC2 HuRef nsv509147 1 31960623 31992675 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 31962212 31993349 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 31966272 31989218 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 31967819 31967819 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825409 S 2 1 0 "" HuRef esv2559743 1 31971485 31993630 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234776 S 1 0 0 LOC149086,LOC284551 NA18507 esv1513298 1 31971544 31971544 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602292 S 2 1 0 "" HuRef nsv7734 1 32000739 32030393 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6550 S 9 1 0 "" NA12156 esv2746364 1 32011534 32012283 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961587,essv6759066,essv6950585,essv6725863,essv6868728,essv6703880,essv6917454,essv6885994,essv6877043,essv6839993,essv6785010,essv6853261,essv6972383,essv6789175,essv6686166,essv6675217,essv6929079,essv6950396,essv6847044,essv6859208,essv6954772 M 96 0 21 "" SSM004,SSM012,SSM017,SSM020,SSM025,SSM026,SSM027,SSM029,SSM032,SSM035,SSM040,SSM046,SSM061,SSM069,SSM070,SSM084,SSM086,SSM087,SSM088,SSM090,SSM096 esv4808 1 32011724 32012238 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27249 S 1 0 1 Single Asian sample YH "" YH esv2677626 1 32011912 32012061 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6186916,essv6437530,essv5555784,essv5741292,essv5582076,essv6274622,essv5948028,essv5888471,essv5881747,essv6198195,essv6012785,essv5630479,essv6458853,essv5644708,essv6305618,essv6377803,essv5666078,essv5717832,essv6129896,essv5805406,essv6037487,essv6535292,essv6039670,essv5675212,essv5751089,essv6374615,essv6410198,essv5426199,essv5430548,essv6222665,essv5447905,essv6248907,essv6405605,essv5684561,essv5869805,essv6524583,essv5467725,essv5772641,essv6329160,essv5832011,essv5504599,essv5973198 M 1151 0 42 "" HG00246,HG00271,HG00320,HG00443,HG00464,HG00475,HG00479,HG00500,HG00501,HG00512,HG00531,HG00533,HG00534,HG00556,HG00581,HG00583,HG00589,HG00608,HG00619,HG00650,HG00654,HG00657,HG00662,HG00671,HG00684,HG00692,HG00701,HG00707,HG00708,HG01069,NA18530,NA18543,NA18549,NA18550,NA18557,NA18570,NA18621,NA18623,NA19138,NA19381,NA19391,NA19398 dgv25e201 1 32011934 32012143 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2746397,esv2746375 M 96 0 13 "" SSM012,SSM025,SSM026,SSM027,SSM032,SSM035,SSM040,SSM046,SSM069,SSM086,SSM087,SSM088,SSM096 esv2746386 1 32011972 32012070 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6847044,essv6954772 M 96 0 2 "" SSM026,SSM086 nsv10062 1 32036901 32088982 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 dgv26e201 1 32043991 32044768 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2746408,esv2746430 M 96 0 6 TINAGL1 SSM009,SSM043,SSM071,SSM080,SSM088,SSM089 esv2746419 1 32043995 32044245 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6714269 S 96 0 1 TINAGL1 SSM043 dgv27e201 1 32044405 32044807 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2743254,esv2741429 M 96 0 2 TINAGL1 SSM027,SSM056 esv1695245 1 32044544 32044609 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937819 S 2 0 1 TINAGL1 HuRef esv2746441 1 32045516 32045969 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961589,essv6824997,essv6910067,essv6789176,essv6748610,essv6714271,essv6954774 M 96 0 7 TINAGL1 SSM008,SSM015,SSM026,SSM027,SSM043,SSM070,SSM080 esv2746452 1 32045760 32045845 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6961589 S 96 0 1 TINAGL1 SSM027 dgv209n71 1 32062066 32209469 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871735,nsv871205 M 6533 0 2 BAI2,COL16A1,HCRTR1,PEF1 MS13770,MS19771 nsv470708 1 32092525 32146764 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 32133737 32146764 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415933 S 112 0 1 COL16A1 NA12750 nsv870517 1 32142354 32160918 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 32146764 32157009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704951 S 2026 0 1 COL16A1 nsv461028 1 32165495 32215178 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 esv2660366 1 32186484 32187745 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6420077 S 1151 0 1 "" HG00174 dgv210n71 1 32188994 32247096 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870597,nsv871574 M 6533 0 2 BAI2,MIR4254 SP54956,SP54988 esv2517616 1 32272603 32273628 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181268 S 1 1 0 SPOCD1 NA18507 nsv870880 1 32280610 32343368 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 32280999 32281572 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431802 S 31 0 1 SPOCD1 AK20 esv260047 1 32281292 32281574 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 32281377 32281377 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179194 M 24 SPOCD1 esv33582 1 32362950 32412126 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 32371454 32525465 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444462 S 95 0 1 KHDRBS1,PTP4A2 esv2746463 1 32373264 32373992 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6747799,essv6874722,essv6961590,essv6666914,essv6773455,essv6916907,essv6668979,essv6853262,essv6933325,essv6735986,essv6972384,essv6847045,essv6784809,essv6756567,essv6859211,essv6954775 M 96 0 16 PTP4A2 SSM003,SSM009,SSM021,SSM026,SSM027,SSM029,SSM030,SSM031,SSM050,SSM056,SSM059,SSM066,SSM086,SSM087,SSM088,SSM092 esv2127776 1 32373526 32373977 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820483 S 1 0 1 PTP4A2 NA18507 esv2746475 1 32373719 32373889 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6853262,essv6668979,essv6972384,essv6847045,essv6954775,essv6859211 M 96 0 6 PTP4A2 SSM026,SSM029,SSM031,SSM086,SSM087,SSM088 esv2671041 1 32404344 32411575 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5454737 S 1151 0 1 "" NA20532 esv271107 1 32411248 32411333 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 32448285 32452422 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 esv2675881 1 32448660 32452206 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6542586,essv5568099,essv5870725,essv5765278 M 1151 0 4 "" HG00449,HG00614,NA18564,NA19062 esv2746486 1 32448772 32452095 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6874723,essv6744955,essv6933326,essv6832614,essv6689280,essv6816604,essv6843911 M 96 0 7 "" SSM021,SSM036,SSM055,SSM078,SSM082,SSM085,SSM092 nsv820067 1 32449243 32451856 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 32449975 32451566 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428021,nssv1440121 M 31 0 2 "" AK10,NA18564 esv2746497 1 32463015 32464914 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6769545,essv6692792,essv6733498,essv6807385 M 96 0 4 "" SSM037,SSM049,SSM065,SSM075 esv2662266 1 32535943 32537630 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5882475 S 1151 0 1 "" NA19054 esv25480 1 32544596 32547969 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 esv2674125 1 32551023 32552947 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5485947 S 1151 0 1 TMEM39B HG01073 nsv7745 1 32649471 32657670 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 32672513 32707290 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 esv2662740 1 32698948 32701021 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6509961 S 1151 0 1 MTMR9LP HG00246 dgv211n71 1 32792358 32831106 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871957,nsv870591 M 6533 0 2 BSDC1,HDAC1,LOC100128071,MARCKSL1,TSSK3 SP54956,SP54988 esv7048 1 32833238 32833321 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29489 S 1 1 0 BSDC1 SJK nsv521689 1 32866717 32875280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698309 S 2026 0 1 "" esv2660543 1 32871677 32871969 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6195180,essv5881366,essv5800506,essv6042259,essv5728274,essv6150232 M 1151 0 6 "" NA18874,NA19374,NA19390,NA19707,NA19834,NA19835 esv2675096 1 32874178 32875606 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5940337,essv6262725,essv6486048,essv6134483,essv6415354,essv5709303,essv6265773,essv5492160 M 1151 0 8 "" NA19247,NA19376,NA19472,NA19655,NA19707,NA19908,NA19921,NA20291 nsv517673 1 32874956 32875280 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 "" esv2660472 1 32969091 32973956 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6218541 S 1151 0 1 "" NA18606 esv2666068 1 33026346 33028032 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6307850 S 1151 0 1 ZBTB8A NA19247 nsv461039 1 33032412 33150951 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 esv2746508 1 33035477 33036829 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6797470 S 96 0 1 ZBTB8A SSM072 esv2576617 1 33046583 33047257 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236514 S 1 1 0 ZBTB8A NA18507 nsv512732 1 33046606 33047609 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625358 S 1 1 0 ZBTB8A 1 esv1277305 1 33046788 33046788 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891525 S 2 1 0 ZBTB8A HuRef esv2671633 1 33049926 33056997 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6040767,essv5604444,essv6178473 M 1151 0 3 ZBTB8A HG01342,NA18912,NA19248 nsv519188 1 33085244 33246440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696672 S 2026 0 1 KIAA1522,RBBP4,SYNC,YARS,ZBTB8OS esv2667534 1 33102049 33102922 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv5609534,essv5711338,essv5420948,essv5869961 M 1151 0 4 ZBTB8OS NA18519,NA19099,NA19403,NA19921 esv2746519 1 33111008 33111893 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6972386 S 96 0 1 ZBTB8OS SSM029 nsv160489 1 33119261 33124151 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179067 M 24 RBBP4 esv2746530 1 33156617 33156895 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6710607,essv6689281 M 96 0 2 SYNC SSM036,SSM042 esv2746541 1 33156755 33156966 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6759067 S 96 0 1 SYNC SSM061 esv2661423 1 33156761 33156938 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6595588,essv5519820,essv6213100,essv5524979,essv6501981,essv6136065,essv6565155,essv5739439,essv6592644,essv6070987,essv6283654,essv6052404,essv6577491,essv6191840,essv6231301,essv5592148,essv6401881,essv5606933,essv6478421,essv5615463,essv6434720,essv6024792,essv6569317,essv5626364,essv6567607,essv5630010,essv6513711,essv5777029,essv6529232,essv5996325,essv6569476,essv6117821,essv6451437,essv5650373,essv6541687,essv5893252,essv6145103,essv6062336,essv5709829,essv5903304,essv5669649,essv6152250,essv5767375,essv5978534,essv5697463,essv5800960,essv5850265,essv5435021,essv5692554,essv5457670,essv5477077,essv6113415,essv5486193,essv6092459,essv5773803 M 1151 0 55 SYNC HG00259,HG00311,HG00421,HG00436,HG00437,HG00449,HG00463,HG00472,HG00500,HG00531,HG00543,HG00589,HG00590,HG00593,HG00619,HG00663,HG00698,HG01047,HG01051,HG01079,HG01082,HG01124,HG01133,HG01137,HG01149,HG01188,HG01204,HG01356,HG01357,HG01366,HG01374,HG01440,HG01488,HG01551,NA07347,NA12829,NA18526,NA18532,NA18548,NA18558,NA18576,NA18596,NA18597,NA18599,NA18603,NA18620,NA18635,NA18636,NA18953,NA18964,NA18977,NA18987,NA19663,NA19676,NA19750 nsv509158 1 33157314 33249421 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 33176459 33196345 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 33194678 33196080 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440808 S 31 1 0 "" NA18969 esv2746552 1 33216200 33216643 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6916918,essv6917455,essv6816605,essv6784821 M 96 0 4 KIAA1522 SSM003,SSM009,SSM017,SSM078 esv2657788 1 33216347 33216827 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6134224,essv5583786,essv6228999,essv5650378,essv6083139,essv5756695,essv6228733 M 1151 0 7 KIAA1522 HG00500,HG00536,HG00656,HG00701,HG00702,NA18603,NA18624 esv2746563 1 33218308 33218988 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6744956 S 96 0 1 KIAA1522 SSM055 nsv322 1 33223960 33247596 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 esv2664118 1 33226412 33228411 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6431078 S 1151 0 1 KIAA1522 NA19000 nsv516302 1 33320601 33380108 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 33350183 33371330 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871455,nsv870946 M 6533 0 2 HPCA,TMEM54 SP54956,SP54988 nsv509169 1 33409238 33497506 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 33413292 33581822 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 esv2664245 1 33418171 33421160 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6561745,essv5789952,essv6514084,essv5843458,essv6552025 M 1151 0 5 RNF19B HG01067,HG01441,NA11830,NA12775,NA20527 nsv512734 1 33451996 33452408 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625360 S 1 1 0 "" 1 esv2080204 1 33476252 33478971 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892698 S 1 0 1 AK2 NA18507 esv7538 1 33476352 33478910 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29979 S 1 0 1 AK2 SJK esv2746574 1 33476377 33478846 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6747800,essv6769546,essv6679187,essv6785011,essv6797471,essv6707281,essv6874724,essv6961591,essv6925710,essv6669399,essv6950586,essv6836205,essv6895858,essv6761872,essv6759068,essv6906110,essv6917456,essv6710608,essv6946515,essv6719087,essv6802820,essv6821198,essv6902373,essv6725864,essv6889018,essv6950407,essv6916930,essv6967955,essv6801634,essv6773456,essv6744957,essv6933327,essv6738825,essv6816876,essv6668980,essv6780894,essv6868729,essv6753513,essv6722022,essv6703881,essv6937699,essv6824999,essv6695821,essv6885995,essv6692793,essv6921744,essv6776957,essv6733500,essv6750623,essv6883267,essv6910068,essv6832615,essv6766563,essv6853263,essv6877677,essv6877054,essv6689282,essv6880433,essv6810349,essv6839994,essv6735988,essv6813183,essv6847046,essv6914013,essv6699612,essv6789178,essv6829028,essv6843976,essv6718175,essv6972387,essv6892334,essv6816606,essv6686167,essv6742159,essv6863976,essv6793314,essv6784832,essv6764175,essv6682842,essv6748621,essv6729646,essv6898623,essv6843912,essv6714272,essv6929080,essv6941807,essv6675218,essv6807386,essv6804415,essv6871733,essv6756568,essv6954776,essv6859212,essv6902558,essv6697001 M 96 0 95 AK2 SSM001,SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM047,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM057,SSM058,SSM059,SSM061,SSM062,SSM063,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 esv2326918 1 33478922 33487030 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754145 S 1 0 1 AK2 NA18507 esv1076420 1 33517497 33517497 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933980 S 2 1 0 "" HuRef esv1009865 1 33650862 33653938 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 33651811 33652446 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625361 S 1 1 0 "" 1 nsv520532 1 33690698 33696157 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697472 S 2026 0 1 "" nsv524709 1 33732192 33737426 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700693 S 2026 0 1 ZNF362 nsv522364 1 33732192 33832933 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695144 S 2026 0 1 MIR3605,PHC2,ZNF362 nsv871813 1 33760743 33867102 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 33784627 33820134 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689909,nssv670196,nssv657897,nssv687609 M 2026 0 4 MIR3605,PHC2 esv2659665 1 33785376 33787934 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6196136,essv5519090,essv6294894,essv5944118,essv6267051,essv5975939,essv6568178,essv5755092,essv6268608,essv5935693,essv5679037,essv5907324,essv5670530,essv6000318,essv5514472 M 1151 0 15 "" HG00689,HG01047,HG01079,HG01137,HG01342,HG01350,HG01366,HG01390,HG01462,NA18548,NA19007,NA19682,NA19720,NA19728,NA19729 nsv834613 1 33800206 33961788 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444484 S 95 1 0 PHC2,ZSCAN20 esv2658876 1 33806758 33809167 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6497009 S 1151 0 1 PHC2 HG00472 esv1384773 1 33821895 33821895 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757381 S 2 1 0 PHC2 HuRef nsv333 1 33857358 33902508 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 33870800 33877060 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179637 M 24 "" esv2669223 1 33898087 33899105 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6550886,essv6093949,essv6253837,essv5449565 M 1151 0 4 "" HG00118,HG01134,NA20534,NA20537 nsv344 1 33933815 33955008 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 34001594 34035249 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 34024675 34025020 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 34028738 34029620 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 esv2659435 1 34028739 34029733 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6444182,essv5575525 M 1151 0 2 CSMD2 NA19147,NA20346 nsv518591 1 34029070 34032417 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696037 S 2026 0 1 CSMD2 esv25436 1 34041090 34042831 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 34094567 34126955 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 esv2746586 1 34205745 34206073 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6668981 S 96 0 1 CSMD2 SSM031 nsv524359 1 34210532 34213400 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700270 S 2026 1 0 CSMD2 nsv509180 1 34230324 34316023 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 34280034 34280334 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 34294222 34294847 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 34305673 34471832 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 34323487 34361831 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 34328279 34410992 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 34406948 34412032 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 esv2746597 1 34409812 34412951 CNV Deletion Wong_et_al_2012b 23290073 Sequencing Illumina HiSeq2000 essv6836206 S 96 0 1 CSMD2 SSM083 nsv834635 1 34419338 34611975 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 34420696 34924596 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 34514166 34688706 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 34544130 34546694 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 dgv28e201 1 34567942 34568908 CNV Deletion Wong_et_al_2012b 23290073 Sequencing esv2740966,esv2746608 M 96 0 19 CSMD2 SSM001,SSM002,SSM006,SSM009,SSM016,SSM017,SSM020,SSM026,SSM029,SSM033,SSM043,SSM057,SSM061,SSM064,SSM068,SSM080,SSM085,SSM090,SSM099 esv2267346 1 34567969 34568469 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4953377 S 1 0 1 CSMD2 NA18507 nsv834657 1 34568086 34744466 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 34568178 34568273 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968445 S 2 0 1 CSMD2 HuRef esv2659708 1 34568180 34568256 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6493849,essv5516911,essv6164423,essv5553195,essv6183847,essv6124570,essv6215167,essv5779840,essv6241509,essv5830094,essv6220939,essv5584295,essv6309891,essv5618100,essv5949568,essv6097038,essv6126531,essv5739922,essv5977225,essv5776138,essv5433832,essv6044746,essv5911092,essv5485741 M 1151 0 24 CSMD2 HG00111,HG00125,HG00137,HG00154,HG00249,HG00250,HG00275,HG00282,HG00310,HG00650,HG00654,NA07000,NA07357,NA11992,NA12761,NA18526,NA18534,NA18563,NA18612,NA18613,NA18636,NA18947,NA18980,NA19138 nsv158970 1 34568204 34568298 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177548 M 24 CSMD2 nsv506926 1 34597680 34603680 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 34636315 34636410 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 34649017 34826841 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 34746680 34790295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518416 S 6533 0 1 "" SP57553 nsv377 1 34755970 34786223 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 34764974 34783684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697737 S 2026 0 1 "" nsv524723 1 34790295 34854628 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700709 S 2026 1 0 "" nsv870768 1 34813681 35012426 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558431 S 6533 1 0 "" MS23257 nsv528365 1 34821831 34834958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704952 S 2026 0 1 "" nsv388 1 34863547 34908671 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 34866656 34867368 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698303 S 2026 0 1 "" esv2664160 1 34926078 34932566 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6463521 S 1151 0 1 "" NA19473 esv2497338 1 35006664 35007096 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255546 S 1 1 0 "" NA18507 esv2671649 1 35030545 35037892 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array essv6381166,essv5523116,essv6477365,essv6338902,essv6136999,essv6183759,essv5559434,essv5565063,essv5568683,essv6290828,essv5733768,essv6533261,essv5719248,essv6514103,essv6105547,essv6436230,essv6437834,essv5816935,essv5824438,essv5898769,essv5962985,essv6091392,essv5700278,essv6476830,essv5703992,essv6557169,essv5425435,essv5436295,essv5439539,essv5450644,essv5770563,essv5869158,essv5464802,essv6271416,essv5905563,essv5990545,essv5751717,essv5498137 M 1151 0 38 "" NA18526,NA18534,NA18536,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18557,NA18558,NA18559,NA18561,NA18563,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18595,NA18596,NA18597,NA18599,NA18603,NA18606,NA18608,NA18609,NA18610,NA18632,NA18635,NA18636,NA18637,NA18638 nsv10084 1 35074459 35081059 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 35089540 35114591 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv243 S 1 0 1 "" NA15510 nsv399 1 35089540 35121160 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 35094987 35110817 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 35095652 35113184 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625599 S 1 0 1 "" 1 nsv10095 1 35097030 35112290 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 35097520 35113184 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 35097520 35142875 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 35097520 35232472 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 35100825 35112862 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626327 S 1 0 1 "" 1 esv1009124 1 35101224 35117966 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 dgv37e199 1 35101421 35111976 CNV Deletion 1000_Genomes_Consortium_Phase_1 23128226 Oligo_aCGH,PCR,Sequencing,SNP_array esv2660604,esv2674298 M 1151 0 239 "" HG00096,HG00100,HG00106,HG00114,HG00116,HG00122,HG00131,HG00140,HG00141,HG00142,HG00149,HG00155,HG00156,HG00158,HG00159,HG00171,HG00177,HG00178,HG00180,HG00183,HG00187,HG00188,HG00189,HG00233,HG00237,HG00239,HG00242,HG00245,HG00250,HG00252,HG00253,HG00260,HG00261,HG00262,HG00267,HG00268,HG00269,HG00271,HG00272,HG00274,HG00275,HG00276,HG00281,HG00282,HG00306,HG00310,HG00311,HG00313,HG00320,HG00321,HG00325,HG00326,HG00327,HG00330,HG00336,HG00343,HG00344,