A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608792



Internal ID6995716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41896982..41897554hg38UCSC Ensembl
Innerchr6:41897019..41897517hg38UCSC Ensembl
Outerchr6:41896945..41897591hg38UCSC Ensembl
chr6:41864720..41865292hg19UCSC Ensembl
Innerchr6:41864757..41865255hg19UCSC Ensembl
Outerchr6:41864683..41865329hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38573
hg19573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12328295, essv12327900, essv12327820, essv12328196, essv12328492, essv12328318, essv12327748, essv12327936, essv12327781, essv12328003, essv12327841, essv12328432, essv12328189, essv12328031, essv12327855, essv12328143, essv12327984, essv12328456, essv12328306, essv12328118, essv12328188, essv12328374, essv12328204, essv12327923, essv12328198, essv12328267, essv12328062, essv12327950, essv12327947, essv12328120, essv12328038, essv12328414, essv12327844, essv12328484, essv12328411, essv12328308, essv12328385, essv12328323, essv12328403, essv12328121, essv12328138, essv12328170, essv12328288, essv12328317, essv12328271, essv12328137, essv12328394, essv12327998, essv12328070, essv12328436, essv12328431, essv12328247, essv12328337, essv12328234, essv12328020, essv12327942, essv12328339, essv12328067, essv12328123, essv12328498, essv12328195, essv12327971, essv12327932, essv12328310, essv12328200, essv12328369, essv12328208, essv12328486, essv12328061, essv12327882, essv12327740, essv12328140, essv12328279, essv12328409, essv12327953, essv12327800, essv12327858, essv12327886, essv12327913, essv12327754, essv12328324, essv12328101, essv12328334, essv12328368, essv12328386, essv12327883, essv12328183, essv12327735, essv12328051, essv12328280, essv12328044, essv12327838, essv12327995, essv12328389, essv12328448, essv12328166, essv12328116, essv12327794, essv12328223, essv12328002, essv12328174, essv12328163, essv12328077, essv12328129, essv12328326, essv12328022, essv12328378, essv12327961, essv12327869, essv12328447, essv12328381, essv12328025, essv12327896, essv12328375, essv12327956, essv12328428, essv12328186, essv12328410, essv12328365, essv12327986, essv12328220, essv12328290, essv12327779, essv12328454, essv12328294, essv12328404, essv12328133, essv12327963, essv12327840, essv12327769, essv12328069, essv12327902, essv12328355, essv12327862, essv12327806, essv12328033, essv12328313, essv12328009, essv12327918, essv12328085, essv12328006, essv12327846, essv12328173, essv12328469, essv12328227, essv12328086, essv12328497, essv12328350, essv12328001, essv12327826, essv12328455, essv12327775, essv12328500, essv12327941, essv12328270, essv12327906, essv12327857, essv12328201, essv12328155, essv12328149, essv12327764, essv12328063, essv12328495, essv12327753, essv12328176, essv12328345, essv12328424, essv12328465, essv12328024, essv12328056, essv12327885, essv12327849, essv12327734, essv12328343, essv12328131, essv12328135, essv12328213, essv12327964, essv12327822, essv12328371, essv12328322, essv12328283, essv12327850, essv12328095, essv12327847, essv12327983, essv12327843, essv12327827, essv12328463, essv12328187, essv12328421, essv12327916, essv12327851, essv12328096, essv12328302, essv12327922, essv12327831, essv12327948, essv12327943, essv12328142, essv12327925, essv12328147, essv12328160, essv12327972, essv12327741, essv12328004, essv12327824, essv12328362, essv12327898, essv12328259, essv12328064, essv12328342, essv12328231, essv12328073, essv12327924, essv12327908, essv12328221, essv12327888, essv12328237, essv12328480, essv12328426, essv12328153, essv12327878, essv12327920, essv12328058, essv12328450, essv12328287, essv12328151, essv12328360, essv12328415, essv12328144, essv12328197, essv12328419, essv12327751, essv12327750, essv12328325, essv12328045, essv12328071, essv12328488, essv12327768, essv12328320, essv12328235, essv12328113, essv12328018, essv12328269, essv12328030, essv12328042, essv12327901, essv12328422, essv12327934, essv12327874, essv12327778, essv12328092, essv12328165, essv12328437, essv12328367, essv12328029, essv12327738, essv12328442, essv12327797, essv12327836, essv12327766, essv12327762, essv12328182, essv12327828, essv12328034, essv12328048, essv12328476, essv12328255, essv12328256, essv12327965, essv12328489, essv12328296, essv12328298, essv12328388, essv12328114, essv12327815, essv12327914, essv12327879, essv12327807, essv12328185, essv12328493, essv12328184, essv12327970, essv12327985, essv12327811, essv12328110, essv12328128, essv12327881, essv12328359, essv12327792, essv12328016, essv12327871, essv12328376, essv12328072, essv12328219, essv12327944, essv12327949, essv12328026, essv12328441, essv12327863, essv12328112, essv12328074, essv12327981, essv12327959, essv12327825, essv12327919, essv12327929, essv12328452, essv12327852, essv12328265, essv12328233, essv12327940, essv12327788, essv12328104, essv12328395, essv12328218, essv12327973, essv12328418, essv12328203, essv12327926, essv12328408, essv12327770, essv12327780, essv12327974, essv12328467, essv12327808, essv12328314, essv12328311, essv12327747, essv12328158, essv12327798, essv12328401, essv12328180, essv12328216, essv12327783, essv12327739, essv12328098, essv12328347, essv12328236, essv12327954, essv12328055, essv12328377, essv12328474, essv12328400, essv12328481, essv12327938, essv12328457, essv12327813, essv12327977, essv12328088, essv12328443, essv12327795, essv12328239, essv12328171, essv12328483, essv12327789, essv12328261, essv12328499, essv12328449, essv12328148, essv12328124, essv12328017, essv12327909, essv12328373, essv12328282, essv12328100, essv12328240, essv12328316, essv12327999, essv12327810, essv12328215, essv12328346, essv12327776, essv12328312, essv12328047, essv12328473, essv12327746, essv12328248, essv12328353, essv12328175, essv12327935, essv12327809, essv12328440, essv12328490, essv12327928, essv12327887, essv12327790, essv12328266, essv12328164, essv12328245, essv12327969, essv12327904, essv12327784, essv12328206, essv12327994, essv12327894, essv12327987, essv12327866, essv12328019, essv12327889, essv12327796, essv12328356, essv12328091, essv12328319, essv12328093, essv12328078, essv12328115, essv12328380, essv12328300, essv12328130, essv12328478, essv12328049, essv12327742, essv12327996, essv12328028, essv12327912, essv12328425, essv12327872, essv12328276, essv12328161, essv12328253, essv12328125, essv12328301, essv12328065, essv12328336, essv12328461, essv12328010, essv12328281, essv12328157, essv12327893, essv12328390, essv12327833, essv12327772, essv12328370, essv12328433, essv12328244, essv12328136, essv12328154, essv12327921, essv12328226, essv12328225, essv12328479, essv12328329, essv12328082, essv12328083, essv12327892, essv12328264, essv12327867, essv12327853, essv12328249, essv12327832, essv12328090, essv12327793, essv12327903, essv12327765, essv12328434, essv12328105, essv12327774, essv12328274, essv12327911, essv12328438, essv12328254, essv12328303, essv12328494, essv12327787, essv12328251, essv12327744, essv12328277, essv12327814, essv12328446, essv12328399, essv12328402, essv12327967, essv12328349, essv12328496, essv12328210, essv12328111, essv12328445, essv12328000, essv12327917, essv12328487, essv12327930, essv12327829, essv12328333, essv12327876, essv12328309, essv12328059, essv12328429, essv12328321, essv12328068, essv12327816, essv12328222, essv12328156, essv12328007, essv12328482, essv12328089, essv12327945, essv12328348, essv12327864, essv12328013, essv12327837, essv12328427, essv12328080, essv12327933, essv12328060, essv12328468, essv12328444, essv12328372, essv12328139, essv12328172, essv12327758, essv12327767, essv12328393, essv12327955, essv12327989, essv12327865, essv12328260, essv12328023, essv12328103, essv12327805, essv12328387, essv12327907, essv12328262, essv12327990, essv12327785, essv12328076, essv12327771, essv12328229, essv12327760, essv12328258, essv12328194, essv12328079, essv12327752, essv12328272, essv12328102, essv12328097, essv12328035, essv12328041, essv12328491, essv12327835, essv12327875, essv12328338, essv12327859, essv12328392, essv12328413, essv12328420, essv12328289, essv12328396, essv12328335, essv12328119, essv12327962, essv12327799, essv12328027, essv12328327, essv12328246, essv12327733, essv12328383, essv12327845, essv12328332, essv12327763, essv12328181, essv12328053, essv12327910, essv12327966, essv12328284, essv12327773, essv12328273, essv12328191, essv12328286, essv12327891, essv12328344, essv12328046, essv12327791, essv12327782, essv12328477, essv12328217, essv12328075, essv12327960, essv12328361, essv12328084, essv12328146, essv12328453, essv12328341, essv12327801, essv12327905, essv12327812, essv12328397, essv12328357, essv12328291, essv12327890, essv12327877, essv12327761, essv12328108, essv12328179, essv12327951, essv12328159, essv12328211, essv12327777, essv12328352, essv12328145, essv12328040, essv12327818, essv12327830, essv12328152, essv12327988, essv12328228, essv12328122, essv12328011, essv12328238, essv12328354, essv12328015, essv12328052, essv12327860, essv12328205, essv12328168, essv12328043, essv12328466, essv12328379, essv12327915, essv12327737, essv12328307, essv12328081, essv12328470, essv12327821, essv12328106, essv12327817, essv12328407, essv12328275, essv12328243, essv12328193, essv12328250, essv12328412, essv12328230, essv12328032, essv12328471, essv12328037, essv12327980, essv12327993, essv12328416, essv12328192, essv12328364, essv12327745, essv12328252, essv12328021, essv12328257, essv12327957, essv12328212, essv12327991, essv12328475, essv12327870, essv12328315, essv12328107, essv12328435, essv12328241, essv12328127, essv12328299, essv12327861, essv12328162, essv12328209, essv12328199, essv12327975, essv12328039, essv12327958, essv12327927, essv12328169, essv12328405, essv12328109, essv12328014, essv12327897, essv12327743, essv12328177, essv12328126, essv12328331, essv12327997, essv12327834, essv12328036, essv12328094, essv12327931, essv12328134, essv12328351, essv12328485, essv12328202, essv12328150, essv12327854, essv12328232, essv12328278, essv12328293, essv12327749, essv12328458, essv12327802, essv12327842, essv12328460, essv12328363, essv12327880, essv12328382, essv12328050, essv12327937, essv12328167, essv12328462, essv12328268, essv12327976, essv12327884, essv12328328, essv12328451, essv12328423, essv12328297, essv12328190, essv12327899, essv12328459, essv12327992, essv12328008, essv12327939, essv12328054, essv12327978, essv12327979, essv12328178, essv12327952, essv12328472, essv12328439, essv12328417, essv12328340, essv12328099, essv12328285, essv12327756, essv12328292, essv12327968, essv12328207, essv12328384, essv12328141, essv12327819, essv12328398, essv12328005, essv12327759, essv12328391, essv12327848, essv12328066, essv12328263, essv12327856, essv12327873, essv12328366, essv12328406, essv12327757, essv12328358, essv12328012, essv12327839, essv12327786, essv12328087, essv12327804, essv12328464, essv12327755, essv12328430, essv12328242, essv12328304, essv12328214, essv12328224, essv12328132, essv12327982, essv12328330, essv12327736, essv12327895, essv12327868, essv12328057, essv12327946, essv12327823, essv12328305, essv12328117, essv12327803
SamplesHG01986, HG03593, HG00650, HG00442, HG01402, HG01965, HG00608, NA18621, HG00384, NA18647, HG01031, HG04222, NA12414, NA21099, HG01602, NA11920, HG01326, HG02661, HG00257, NA18999, NA18528, NA12751, HG02691, HG01486, HG02050, HG03018, HG02382, NA18530, HG02215, HG02040, NA21128, NA12750, HG04059, NA19446, HG03603, HG00138, HG00589, HG02140, HG01177, HG02156, HG01676, HG01167, NA21130, HG04206, NA20756, NA20911, NA18558, HG03913, HG01492, NA18574, HG03874, NA11918, NA18582, HG03234, NA20768, HG01365, HG00537, HG00243, HG00158, NA19720, HG03910, HG00632, HG00335, HG01519, NA20812, HG02597, HG02389, HG01849, HG02082, HG01284, NA18985, HG01771, NA20757, HG03585, HG00323, HG01967, NA20755, NA19921, HG01851, HG02134, HG01565, HG00137, NA12489, HG00731, HG01847, HG01867, NA19056, HG01200, HG01122, HG02070, HG01857, HG02380, HG03786, NA20521, NA19184, HG01879, NA19717, HG03711, HG01845, NA12718, HG02728, NA18572, NA18948, HG01796, NA12234, NA18548, NA20903, NA19084, HG00404, HG02445, NA12829, NA21112, HG01613, NA18532, NA19059, HG04063, NA19009, HG00463, NA12778, HG04176, HG02219, HG04118, HG02896, HG00126, NA18593, HG02127, HG04200, HG01811, HG02772, NA20851, NA20799, HG00611, HG03848, NA18533, HG04216, HG01597, HG03539, HG03708, NA18628, HG02355, HG03920, NA12873, HG02391, HG01174, HG02232, HG01620, NA20281, NA19360, NA12763, NA18615, HG01342, HG03729, HG01861, NA20906, NA20897, NA19117, HG03600, HG02379, HG02128, HG02373, NA18631, HG00381, HG01804, NA19779, HG03849, HG02079, HG03279, HG01799, NA18609, HG03716, HG04098, HG02182, NA20826, HG04171, HG01794, HG00274, HG02353, HG01756, HG00628, NA18624, NA20827, HG03815, HG01509, NA19074, HG01437, HG00581, NA18577, NA11832, HG03989, HG03864, HG01507, NA20762, HG00114, HG00235, HG01795, HG00121, NA20853, NA19794, NA19397, HG03965, NA18592, NA12814, HG00100, HG02648, HG02035, HG04202, HG01188, NA18599, HG03015, HG01389, HG00306, NA18641, HG02061, HG03558, HG01305, HG00699, NA12004, HG02058, HG00452, NA21115, HG00341, HG00150, NA20507, HG03172, NA18526, HG01809, HG01500, NA19068, NA19746, HG01341, NA19076, NA18550, HG00109, HG03706, HG03640, NA18595, HG01064, HG00173, NA18635, HG03765, HG04144, HG02620, HG00458, NA20769, HG00634, NA18942, HG00610, NA19649, NA19197, NA19023, NA19054, HG03479, NA20513, HG01110, HG00590, NA20541, NA19038, HG03851, HG00277, HG02703, HG02395, HG00683, HG03986, HG02224, HG01170, NA20896, HG01813, HG01757, NA18560, NA12889, NA12815, HG03995, HG03352, HG02138, NA20884, NA19725, NA18520, NA20764, NA20587, HG03832, NA18973, NA18638, NA12748, HG00464, HG01524, HG03709, HG01784, HG00188, HG00629, HG01360, HG00183, HG00176, NA19082, HG00982, NA19707, NA20787, HG01797, NA20524, HG03787, NA12342, HG04062, HG03644, HG02334, HG02236, HG01790, NA20809, NA18644, HG02076, HG01612, HG00584, NA21118, NA21098, NA18976, HG01852, HG01948, HG03123, HG01777, HG01392, HG01094, HG01414, HG00844, HG00373, HG02048, HG01182, NA19001, HG02081, HG01705, HG01708, HG01679, HG01403, NA20828, HG00141, NA21142, HG02408, HG00445, HG03940, NA18646, HG01700, HG00128, HG01363, HG03028, HG02684, NA20801, NA18535, NA18952, NA18559, NA18950, HG03838, HG00136, HG03689, NA07051, HG00631, HG03127, HG01205, HG00607, HG01260, HG00319, HG00256, HG04003, HG02181, HG00125, HG01606, HG00707, HG00672, HG01917, HG00409, NA20868, HG02238, HG01028, HG00378, NA12749, HG00288, HG02396, NA12830, HG02410, NA20807, NA18972, HG00343, HG00372, HG01617, HG01377, HG00472, HG03922, NA19146, NA19004, HG01863, NA18549, HG01191, NA19394, NA18745, NA12383, HG04210, NA20882, NA20761, HG02658, HG01173, HG00304, HG02385, NA12286, HG00671, HG00559, NA20783, NA18565, HG02375, HG02026, HG03111, HG02029, HG00457, HG03115, HG00244, HG01802, NA12340, HG00115, NA18616, HG00449, NA20517, HG02384, HG00654, HG00261, NA20771, HG03999, NA12399, HG01522, HG00693, HG00271, HG03782, NA18940, HG02185, NA18597, HG01351, HG03808, HG01277, NA20774, HG01168, NA18567, HG04042, HG03604, HG02085, HG04182, NA20822, NA07347, NA18571, HG01840, HG00334, NA20287, HG00185, NA19904, NA11930, NA20518, NA20278, HG00148, NA12156, HG02736, HG00325, HG00113, NA12044, NA11994, HG00705, HG01525, HG04020, HG02190, NA20889, HG00118, HG01844, NA18557, HG01133, HG01058, HG00253, HG00365, HG02164, NA20753, HG00743, NA18645, HG02716, HG02047, HG00349, HG00154, NA19908, HG00443, HG03861, HG00268, NA19091, HG00380, HG00282, NA19670, HG01670, HG02075, HG00245, HG01789, HG04195, HG00556, HG00583, HG00263, NA18579, HG02522, HG01345, HG01675, HG01607, HG01029, HG00551, HG04235, NA20525, HG00324, NA18573, NA11919, HG03730, HG00651, HG00250, NA18626, HG00531, HG00479, NA19042, HG02787, HG01870, HG03802, HG00684, NA18553, HG03971, HG02783, HG00146, NA18963, HG00704, HG00864, NA18570, HG00240, NA12546, HG01956, NA18541, NA19012, NA18974, HG03653, NA12043, HG03064, HG01148, HG00407, NA20872, NA18632, HG00383, HG00254, HG00265, HG04006, NA19149, HG01878, HG04186, HG02790, HG01685, NA19090, NA21123, NA20790, NA20527, HG00473, NA20792, HG02179, HG00237, NA20902, NA19679, HG03304, HG01113, HG01137, NA19783, HG03779, HG00620, NA06994, HG00259, HG03097, NA20849, HG04014, NA20852, NA20510, NA18636, HG01600, HG00280, HG03872, HG02681, HG00728, NA20502, HG01807, HG01431, NA18957, NA11892, HG01111, HG01125, NA19463, NA18623, NA18740, HG01805, NA21120, HG00255, NA19676, NA18620, HG01516, HG00881, HG03773, HG03800, NA11830, HG01521, HG00231, NA11829, HG00351, HG01860, NA20274, HG02433, HG03767, NA20531, NA21092, HG01970, HG00318, NA18486, HG01465, NA18545, NA18596, HG03963, HG01971, NA18606, HG02271, HG00179, HG02023, NA12155, HG00327, HG00622, HG02153, HG01070, HG02811, HG01682, HG04022, NA20850, NA19762, HG00448, NA20586, NA18982, NA12348, NA11992, HG03885, NA18642, NA12283, NA19088, NA19138, HG00369, NA21103, NA19782, HG01982, HG01668, NA18611, HG03897, HG01398, NA19383, NA06984, HG02573, NA18977, HG01281, HG03195, NA21107, NA18986, HG04238, HG00309, HG01259, NA20845, HG04185, HG02073, HG00159, HG02180, NA18954, NA18648, NA11831, HG02009, HG00133, HG00290, NA20854, NA18544, HG02977, HG02265, HG02233, HG01871, HG00596, HG01595, HG02513, HG00328, HG02152, HG02025, HG00190, HG02397, HG01162, HG00701, HG01515, HG00436, HG03428, HG00533, HG02390, NA19658, HG01808, NA18630, NA21116, HG03021, HG03311, HG02364, NA18566, HG03742, HG01615, HG00273, HG03136, HG03660, NA20538, HG02086, HG00117, HG00613, HG00321, HG00157, NA12827, HG03745, HG02292, HG02184, HG00276, HG02585, NA18634, NA18945, HG01530, NA19436, HG02813, NA18542, HG02049, HG00366, HG02682, HG00357, NA19334, HG01933, NA18643, HG03846, HG02685, NA20516, NA19741, HG02139, NA12874, NA07037, NA21126, NA06986, HG01862, HG00107, HG00371, HG01770, HG03896, HG02970, HG00421, HG02654, HG00656, NA18994, HG01055, HG00123, HG03916, HG01817, HG00698, HG01872, HG01781, NA20528, NA20886, HG02028, HG01775, HG04056, NA07000, HG03931, HG01112, HG03698, HG03686, HG01695, HG00978, HG00362, NA18562, NA12776, HG02060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608792
Frequency
Sample Size2504
Observed Gain0
Observed Loss768
Observed Complex0
Frequencyn/a


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