A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587459



Internal ID6974883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143398896..143520682hg38UCSC Ensembl
chr1:148832244..148954132hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38121787
hg19121889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv47e214
Supporting Variantsessv10117187, essv10117009, essv10117179, essv10116967, essv10117059, essv10117217, essv10117164, essv10117125, essv10116995, essv10117069, essv10117242, essv10117157, essv10117098, essv10116989, essv10116970, essv10117053, essv10117038, essv10116910, essv10117203, essv10117021, essv10116893, essv10117225, essv10117141, essv10117243, essv10117003, essv10117214, essv10117228, essv10116940, essv10117267, essv10117115, essv10116895, essv10117135, essv10117277, essv10117107, essv10117000, essv10116899, essv10117162, essv10116923, essv10117205, essv10117169, essv10116968, essv10117151, essv10117030, essv10117288, essv10117144, essv10117007, essv10117294, essv10117213, essv10117262, essv10117110, essv10117268, essv10117133, essv10117146, essv10116925, essv10116905, essv10117271, essv10117028, essv10116972, essv10116963, essv10116948, essv10117237, essv10116912, essv10116965, essv10117039, essv10116959, essv10117197, essv10117209, essv10117182, essv10116962, essv10117269, essv10117156, essv10117023, essv10117104, essv10117022, essv10117207, essv10117102, essv10117273, essv10116938, essv10117143, essv10117181, essv10117037, essv10116913, essv10117114, essv10117148, essv10116904, essv10117244, essv10117062, essv10117178, essv10117002, essv10117103, essv10117088, essv10117081, essv10117281, essv10117253, essv10116988, essv10116984, essv10116916, essv10116964, essv10116896, essv10117105, essv10117139, essv10117056, essv10117258, essv10116976, essv10117041, essv10116917, essv10117117, essv10117014, essv10117032, essv10117282, essv10116920, essv10117283, essv10117128, essv10117293, essv10116951, essv10117011, essv10116997, essv10117132, essv10116898, essv10117236, essv10117193, essv10117034, essv10117012, essv10116993, essv10116992, essv10117274, essv10117175, essv10117060, essv10117024, essv10117092, essv10116914, essv10117276, essv10117219, essv10116903, essv10116911, essv10116901, essv10117064, essv10117249, essv10117008, essv10117260, essv10116906, essv10117066, essv10116942, essv10116918, essv10117080, essv10117048, essv10117160, essv10116933, essv10117029, essv10117163, essv10117131, essv10117027, essv10117230, essv10117224, essv10117045, essv10117204, essv10117124, essv10117044, essv10117200, essv10117100, essv10117013, essv10117238, essv10117152, essv10117031, essv10117097, essv10117223, essv10117049, essv10117287, essv10117251, essv10116902, essv10117255, essv10117211, essv10117198, essv10117159, essv10117270, essv10117174, essv10116975, essv10116996, essv10117180, essv10116921, essv10116924, essv10117189, essv10116994, essv10116943, essv10117278, essv10117116, essv10116947, essv10116934, essv10116908, essv10117101, essv10117147, essv10117241, essv10117126, essv10117033, essv10116937, essv10117284, essv10117040, essv10116966, essv10117192, essv10117190, essv10117122, essv10117250, essv10117129, essv10116944, essv10117075, essv10117094, essv10117191, essv10117266, essv10117202, essv10117095, essv10116977, essv10117118, essv10117161, essv10117047, essv10117120, essv10116946, essv10116909, essv10117206, essv10117142, essv10117239, essv10117229, essv10117155, essv10117073, essv10117196, essv10117010, essv10116961, essv10117185, essv10117077, essv10117108, essv10116930, essv10116974, essv10117256, essv10117051, essv10116999, essv10117261, essv10117195, essv10116985, essv10117096, essv10117004, essv10117231, essv10116897, essv10117057, essv10117264, essv10117153, essv10117248, essv10117215, essv10117020, essv10117233, essv10116979, essv10117285, essv10117046, essv10116956, essv10117078, essv10116926, essv10117222, essv10117093, essv10116939, essv10116953, essv10117145, essv10117017, essv10117025, essv10117263, essv10117121, essv10117176, essv10117127, essv10117018, essv10117072, essv10117061, essv10117026, essv10117036, essv10116928, essv10117058, essv10116973, essv10116954, essv10116950, essv10117173, essv10117227, essv10117087, essv10117154, essv10117137, essv10117111, essv10117259, essv10116927, essv10116936, essv10117001, essv10117194, essv10117076, essv10117210, essv10117055, essv10117019, essv10117188, essv10116919, essv10116987, essv10117112, essv10117106, essv10117240, essv10117290, essv10116971, essv10117136, essv10117054, essv10117167, essv10117134, essv10117286, essv10117246, essv10117084, essv10116982, essv10116981, essv10117035, essv10117292, essv10117252, essv10117235, essv10116969, essv10117091, essv10117089, essv10117074, essv10117226, essv10116941, essv10117184, essv10117220, essv10117086, essv10117015, essv10116907, essv10117090, essv10117168, essv10116922, essv10117079, essv10117005, essv10116931, essv10117245, essv10117149, essv10116955, essv10116978, essv10116949, essv10117291, essv10117109, essv10116960, essv10117218, essv10116986, essv10117257, essv10116945, essv10117183, essv10116952, essv10117289, essv10117186, essv10117234, essv10117082, essv10117063, essv10117052, essv10117050, essv10117006, essv10117113, essv10116915, essv10117208, essv10117247, essv10117119, essv10117216, essv10116980, essv10117071, essv10117140, essv10116990, essv10116929, essv10117043, essv10117068, essv10117042, essv10117067, essv10117177, essv10117158, essv10116935, essv10117275, essv10117221, essv10117130, essv10117212, essv10117138, essv10116894, essv10117166, essv10117083, essv10117123, essv10117201, essv10116957, essv10116900, essv10116983, essv10117150, essv10116991, essv10117065, essv10117279, essv10117016, essv10116998, essv10116958, essv10117272, essv10116932, essv10117265, essv10117254, essv10117171, essv10117172, essv10117165, essv10117199, essv10117280, essv10117232, essv10117170, essv10117085, essv10117070, essv10117099
SamplesNA20509, HG02386, NA19394, NA20882, NA20761, NA20339, HG03121, HG02072, NA20891, HG03378, HG01462, HG03228, HG02385, NA20508, NA19664, HG01610, NA19066, NA18647, NA10851, HG01885, HG02026, HG00766, NA11920, HG01326, HG02029, HG02231, NA20802, HG00729, HG02323, NA18504, HG03018, NA18616, HG00449, HG02384, NA20863, HG02154, HG01704, HG01051, HG03679, HG00271, NA20814, NA19089, HG00356, NA21135, NA19379, NA18519, NA19315, NA18597, HG03722, HG03808, HG02140, HG02156, HG01676, NA21130, HG02383, HG00238, NA18558, HG00129, HG02266, HG03663, HG01083, HG01840, HG00334, HG00451, NA18949, HG03910, HG02252, HG00335, HG00148, NA21109, NA20775, NA18868, HG02736, NA11932, HG02389, NA12044, HG01849, HG00534, NA19172, HG00705, NA19722, HG00160, HG01198, HG03073, HG00365, HG01124, NA18645, HG02047, HG00154, NA20904, NA18747, NA18538, HG01435, NA19056, NA19006, HG04146, HG03907, NA20521, HG00101, HG03928, HG01979, NA20862, HG02522, HG03081, HG01029, HG01889, HG03823, HG00740, NA18537, HG00284, NA19461, NA21124, NA18626, HG03951, HG00531, NA12829, NA11893, HG03802, NA18912, HG04017, HG04063, HG02601, NA18555, NA19682, HG04159, HG02635, HG01107, NA18541, HG00376, HG01811, NA19003, HG04025, HG00254, NA19390, HG03437, NA21144, HG02220, HG00580, HG01685, NA19331, HG02391, HG01939, NA19835, HG03259, HG01866, NA20778, HG02464, NA18610, HG01489, HG03973, HG02558, HG02371, HG01086, HG03600, NA06994, HG00478, HG02095, NA18631, HG02367, HG03066, HG01868, NA20849, HG01846, HG00267, NA19474, NA20852, HG03060, NA20510, HG00310, NA19102, HG01600, HG01269, NA19116, NA19080, NA20826, NA19900, NA18983, HG01794, HG00274, NA18989, NA12890, HG02351, NA19063, NA12154, NA19065, NA18740, HG03985, HG03815, HG03303, HG01805, HG01618, NA11832, HG04198, NA20762, HG03812, HG01441, NA21097, NA18592, HG01860, NA18980, HG00100, HG04211, HG01280, HG01188, NA20531, NA19734, NA18641, NA18917, NA18486, NA19819, HG03772, HG04018, HG01456, HG02394, HG00341, HG00177, HG02734, NA18870, NA18526, NA12400, HG02023, HG02285, HG01809, NA07357, HG01140, NA20846, HG03095, HG00622, HG04100, NA19076, NA19005, NA12812, HG01953, HG03757, HG01064, HG01488, NA19723, NA18982, NA20900, HG04144, NA20905, HG02130, NA19023, NA19054, NA20513, HG01668, HG03594, HG03830, HG03793, HG00277, HG01398, HG00120, HG02003, HG01170, NA20896, HG03595, HG01072, NA18560, HG03788, HG04106, HG01369, NA18617, HG03777, HG01673, HG03995, HG02420, HG00309, HG01932, NA20811, HG03744, HG02073, HG00159, NA19209, NA12828, NA21114, NA18908, HG00530, HG00419, NA19200, HG00739, HG01312, HG03862, HG01942, HG00260, NA19007, NA18614, HG01353, HG02737, HG02402, HG01183, HG03844, HG03780, HG02166, HG03908, HG01248, HG00176, HG00982, NA19707, HG02334, HG02582, HG00190, HG00701, NA18637, HG04035, HG01119, NA21118, NA20770, HG01049, HG02364, HG01161, HG03871, HG02494, NA11894, HG01707, NA20538, NA18856, HG01383, NA19001, HG01791, HG03740, NA18853, HG01842, HG03745, HG03634, HG01679, HG01286, HG03755, HG01865, NA21142, NA20542, HG01596, HG01204, NA18646, HG01530, NA20765, NA21143, NA18608, HG01363, NA18978, HG02455, NA21113, HG00476, NA20522, NA12716, HG04188, HG00119, NA11881, HG03809, HG00285, NA18961, NA19749, HG02696, HG02682, NA18950, HG03838, HG01800, NA18941, HG01958, HG02837, NA07051, HG03850, NA19334, HG02839, HG00319, NA20797, HG02181, NA21125, HG01395, HG00672, HG01432, HG01491, HG00409, NA20868, NA19472, HG01556, HG00421, HG00378, NA18987, NA12749, HG03049, HG02396, HG01254, HG01055, HG00123, HG03258, HG03684, NA20528, NA18552, HG01105, NA19661, HG01377, NA07056, HG01082, HG01566, HG01869, HG03931, HG03118, HG00554, HG01191, HG03686, HG00978, HG00362
Known GenesLOC101929780, LOC645166
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587459
Frequency
Sample Size2504
Observed Gain402
Observed Loss0
Observed Complex0
Frequencyn/a


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