A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608531



Internal ID6648768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31163674..31304530hg38UCSC Ensembl
chr6:31131451..31272307hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38140857
hg19140857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12253941, essv12254140, essv12254219, essv12253945, essv12254121, essv12254234, essv12254173, essv12254250, essv12253946, essv12254230, essv12254093, essv12254174, essv12253983, essv12254074, essv12254208, essv12253999, essv12254131, essv12254016, essv12254083, essv12254032, essv12254069, essv12254218, essv12254142, essv12254011, essv12254246, essv12254049, essv12254135, essv12254160, essv12254004, essv12254144, essv12254136, essv12254211, essv12254080, essv12254104, essv12254221, essv12253937, essv12254041, essv12254001, essv12254122, essv12253972, essv12254013, essv12254180, essv12253978, essv12254223, essv12253959, essv12254186, essv12253957, essv12254254, essv12253987, essv12254244, essv12253942, essv12254271, essv12254020, essv12254220, essv12253988, essv12254278, essv12253982, essv12254056, essv12253984, essv12254063, essv12254130, essv12254000, essv12254057, essv12254188, essv12254193, essv12254196, essv12254260, essv12254258, essv12254268, essv12254064, essv12254110, essv12253971, essv12254022, essv12254182, essv12253948, essv12254029, essv12254106, essv12253950, essv12254005, essv12254233, essv12254204, essv12254035, essv12254172, essv12254257, essv12253947, essv12254154, essv12254138, essv12254189, essv12254227, essv12254226, essv12253970, essv12254066, essv12254141, essv12254147, essv12254118, essv12254134, essv12254168, essv12254039, essv12254167, essv12254025, essv12254050, essv12254075, essv12254101, essv12254228, essv12253995, essv12254099, essv12253994, essv12254132, essv12254239, essv12253964, essv12253976, essv12254079, essv12254176, essv12253973, essv12254002, essv12254191, essv12254159, essv12254067, essv12254184, essv12254240, essv12254124, essv12254137, essv12254157, essv12254195, essv12254133, essv12254044, essv12254062, essv12254276, essv12253944, essv12254082, essv12254235, essv12253943, essv12254198, essv12254214, essv12254116, essv12254177, essv12253990, essv12253998, essv12254084, essv12254102, essv12254051, essv12253996, essv12254202, essv12254255, essv12253966, essv12254014, essv12254164, essv12254033, essv12254043, essv12254072, essv12253953, essv12254242, essv12253969, essv12254259, essv12254055, essv12254263, essv12254071, essv12254129, essv12254247, essv12254081, essv12254119, essv12254026, essv12254243, essv12254077, essv12254127, essv12254264, essv12254085, essv12254253, essv12254161, essv12253989, essv12254034, essv12254088, essv12253962, essv12254036, essv12254162, essv12254019, essv12254037, essv12254224, essv12254236, essv12253965, essv12254229, essv12253961, essv12254012, essv12253952, essv12253980, essv12253985, essv12254095, essv12254266, essv12254112, essv12254038, essv12254009, essv12254114, essv12254143, essv12254231, essv12254103, essv12254021, essv12254262, essv12253940, essv12254060, essv12253967, essv12254096, essv12254125, essv12254215, essv12253991, essv12254068, essv12254181, essv12254201, essv12254270, essv12254205, essv12254053, essv12254209, essv12254146, essv12254261, essv12253981, essv12254115, essv12253938, essv12254222, essv12254100, essv12254190, essv12254216, essv12254158, essv12254018, essv12253956, essv12254097, essv12254128, essv12254105, essv12254123, essv12253979, essv12254152, essv12254245, essv12253993, essv12254070, essv12253986, essv12254139, essv12254090, essv12254192, essv12253968, essv12254269, essv12254042, essv12254274, essv12254098, essv12254171, essv12254207, essv12253974, essv12253975, essv12253977, essv12254241, essv12254040, essv12254065, essv12253955, essv12254006, essv12254109, essv12254203, essv12254052, essv12253949, essv12253951, essv12254028, essv12253954, essv12254086, essv12254169, essv12254091, essv12254059, essv12254265, essv12254048, essv12254008, essv12254017, essv12254153, essv12254094, essv12253992, essv12254092, essv12254175, essv12253935, essv12254111, essv12254165, essv12254058, essv12254024, essv12254126, essv12254197, essv12254007, essv12254249, essv12254054, essv12254273, essv12254166, essv12254272, essv12253936, essv12254252, essv12254047, essv12254073, essv12254194, essv12254213, essv12254078, essv12253997, essv12254238, essv12254212, essv12254185, essv12254031, essv12253963, essv12254023, essv12254113, essv12254061, essv12254003, essv12254089, essv12254187, essv12254199, essv12253958, essv12254148, essv12254206, essv12254232, essv12254150, essv12254087, essv12254256, essv12254210, essv12254027, essv12254183, essv12254170, essv12254277, essv12254225, essv12254045, essv12254107, essv12254155, essv12254046, essv12254237, essv12254156, essv12254015, essv12254179, essv12254108, essv12254151, essv12254217, essv12254275, essv12253960, essv12253939, essv12254120, essv12254030, essv12254251, essv12254200, essv12254248, essv12254163, essv12254076, essv12254010, essv12254149, essv12254145, essv12254117, essv12254178, essv12254267
SamplesHG01878, HG02122, HG02724, HG02725, HG03697, HG03755, HG03968, HG04225, HG03858, HG03705, HG03900, HG03760, HG03861, HG03668, HG02736, HG03729, HG03784, HG01852, HG03479, NA19081, HG01089, HG03744, HG02661, HG03711, HG01859, HG03478, HG03856, HG03868, HG02727, HG02549, HG03741, HG01970, HG02601, HG02792, HG04096, HG02648, HG01197, HG03896, HG04056, HG01325, HG01850, HG02783, HG02681, HG04229, HG03642, HG03653, HG02010, HG03746, HG01167, HG04001, HG03951, HG03967, HG04002, HG04214, HG04200, HG03696, HG04094, HG04020, HG02685, HG03714, HG02150, HG03949, HG04023, HG01968, HG04106, HG04209, HG03863, HG03897, HG03752, HG04038, HG01311, HG03652, HG03667, HG02455, HG04238, HG02731, HG04219, HG04098, HG02775, HG04210, HG02684, HG04206, HG01092, HG02699, HG03235, HG03736, HG01510, HG03672, HG01312, HG01392, HG02700, HG03779, HG01414, NA18957, HG01305, HG02009, HG03882, HG02121, HG03953, HG02142, HG03686, HG01061, HG02577, HG03867, HG03624, HG01088, HG01395, HG03717, HG03681, HG04198, HG03787, HG03862, HG03727, HG03844, HG01396, HG03965, HG03851, HG01589, HG01977, HG02348, HG02078, HG01161, HG04042, HG04222, HG04063, HG03864, HG01187, HG03600, HG03781, HG04227, HG01599, HG03971, HG03685, HG03722, HG03848, HG02737, HG03742, HG02076, HG03895, HG02058, HG02603, HG03869, HG01242, HG01874, HG01974, HG03731, HG03757, HG03773, NA19725, HG02304, HG03786, HG04017, HG01600, HG02127, HG04025, HG01413, HG03998, HG03792, HG02102, HG02541, HG03995, HG00732, HG03660, HG03753, HG03854, HG03743, HG03649, HG04070, HG02786, HG03754, HG02073, HG03782, HG02439, HG03944, HG04080, HG04239, HG01967, HG03849, HG02558, HG03619, HG03974, HG01176, HG02069, HG03740, HG03873, HG02787, HG01889, HG02651, HG02494, HG02780, HG03778, HG03788, HG03733, HG04212, HG01630, HG03645, HG02545, HG04093, HG02072, HG02536, HG03738, HG03978, HG03713, HG01077, HG02690, HG03943, HG01991, HG01979, HG02345, HG04235, HG01063, HG01162, HG02491, HG03237, HG01095, HG02128, HG04033, NA19794, HG03875, HG01971, HG01973, HG03772, HG04022, NA19201, HG03745, HG03789, HG03790, HG03679, HG04047, HG02070, HG01953, HG03866, HG04019, HG01872, HG02688, HG03238, HG03694, HG03986, HG02604, HG03644, HG03771, HG03716, HG02075, HG03702, NA21087, HG01303, HG01893, HG03872, HG02481, HG04035, HG02079, HG03999, HG01412, HG03708, HG01992, HG04018, HG02687, HG02465, HG03890, HG04039, HG01886, HG01323, HG03857, HG01855, HG03640, HG03718, HG02682, HG03016, HG03838, HG02728, HG02555, HG04006, HG03695, HG03837, HG02784, HG01857, HG01890, HG02493, HG03730, HG01976, HG03490, HG03991, HG02774, HG01980, HG03777, HG03775, NA18553, HG03689, HG01870, HG03625, HG02691, HG02580, HG03684, HG02057, HG02477, HG03963, HG03698, HG02793, HG03706, HG01846, HG03785, HG01302, HG04003, HG01072, HG02697, HG01075, HG03977, HG01918, HG04202, HG02546, HG03703, HG02655, HG03693, HG03634, HG02734, HG04014, HG04211, HG03643, HG02048, HG03663, HG03709, HG04026, HG02733, HG02652, HG03234, HG01954, HG03680, HG01204, HG02790, HG03750, HG03019, NA19004, HG03229, HG03960, HG02049, HG04100, HG02789, HG01871, HG02778, HG03488, HG03947, HG01843, HG03687, HG03756
Known GenesHCG27, HLA-C, POU5F1, PSORS1C3, TCF19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608531
Frequency
Sample Size2504
Observed Gain0
Observed Loss344
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer