A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630357



Internal ID7017176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91328255..91330095hg38UCSC Ensembl
Innerchr12:91328255..91330095hg38UCSC Ensembl
Outerchr12:91327907..91330344hg38UCSC Ensembl
chr12:91722032..91723872hg19UCSC Ensembl
Innerchr12:91722032..91723872hg19UCSC Ensembl
Outerchr12:91721684..91724121hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg381841
hg191841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14568092, essv14568143, essv14568156, essv14568028, essv14568061, essv14568150, essv14568103, essv14567999, essv14568060, essv14568059, essv14568044, essv14568145, essv14568051, essv14568104, essv14568072, essv14568040, essv14568114, essv14568137, essv14568121, essv14568005, essv14568024, essv14568139, essv14568018, essv14568134, essv14568116, essv14568096, essv14568006, essv14568142, essv14567992, essv14568123, essv14568089, essv14568047, essv14568115, essv14568149, essv14568119, essv14568074, essv14568107, essv14568113, essv14568088, essv14568043, essv14567997, essv14568147, essv14568122, essv14568076, essv14568035, essv14568110, essv14568004, essv14568159, essv14568068, essv14568148, essv14568037, essv14568067, essv14568141, essv14568042, essv14568032, essv14568083, essv14568052, essv14568105, essv14568021, essv14568045, essv14568082, essv14568009, essv14568014, essv14568112, essv14568093, essv14568038, essv14568027, essv14568131, essv14568002, essv14568085, essv14568053, essv14568087, essv14568153, essv14568133, essv14568017, essv14568041, essv14568144, essv14568073, essv14568054, essv14568086, essv14568071, essv14568066, essv14568055, essv14568070, essv14568162, essv14568154, essv14568000, essv14568126, essv14568118, essv14568106, essv14568098, essv14568033, essv14568140, essv14568084, essv14568012, essv14568101, essv14568039, essv14568011, essv14568025, essv14568007, essv14568065, essv14568100, essv14568015, essv14568138, essv14568075, essv14568008, essv14568036, essv14568048, essv14568109, essv14568157, essv14568127, essv14567998, essv14568078, essv14568064, essv14568080, essv14568152, essv14568095, essv14568079, essv14568146, essv14568102, essv14568135, essv14568124, essv14568117, essv14568081, essv14568022, essv14568003, essv14568031, essv14567993, essv14568129, essv14568130, essv14568030, essv14568049, essv14568062, essv14567994, essv14568016, essv14568019, essv14568090, essv14568097, essv14568151, essv14568108, essv14568029, essv14568132, essv14568069, essv14568161, essv14568063, essv14568020, essv14568136, essv14568094, essv14568046, essv14567995, essv14568099, essv14568160, essv14568058, essv14568111, essv14568155, essv14568034, essv14568125, essv14567996, essv14568023, essv14568001, essv14568077, essv14568056, essv14568158, essv14568091, essv14568013, essv14568120, essv14568026, essv14568050, essv14568128, essv14568057, essv14568010
SamplesHG04212, NA20891, HG02272, NA20877, HG03228, HG01443, HG01961, HG03960, HG03237, HG04060, NA21099, HG03687, NA20274, HG04194, HG02262, NA11931, HG02727, HG01970, HG03941, HG01465, HG02277, HG04164, HG02271, NA21128, HG01051, HG03836, HG01924, NA20846, HG02792, NA19746, HG01350, HG04038, HG03016, HG03706, HG02690, HG03757, HG03754, NA20890, HG03490, NA21130, HG03765, HG04144, HG03913, NA07048, HG03663, HG03885, HG00355, NA21108, HG04131, NA19681, HG01982, HG03594, HG04033, HG01134, HG03887, HG04183, HG01455, HG02490, HG02003, HG01072, NA19731, HG04106, HG03691, HG01284, HG01973, HG01950, HG04047, HG03750, HG02780, HG04029, HG03832, HG01565, HG02737, HG03697, NA18747, HG03908, NA19657, HG03861, HG03007, HG03644, HG03990, HG04195, HG01938, NA20314, NA19663, HG02731, HG03711, HG04019, NA21098, HG01149, HG04180, HG03919, HG01675, HG03823, HG03021, NA19654, NA20901, NA21086, NA21112, HG03802, HG02008, NA20856, HG04189, HG01497, HG03854, HG03745, HG02783, HG02292, NA19761, HG03752, HG00246, NA21142, NA19625, HG03694, HG01204, HG03743, NA21087, NA20851, HG02089, HG04219, HG03848, HG04134, HG03790, HG03809, HG01954, HG00366, NA19072, HG00375, HG01939, HG01977, HG01951, NA20902, HG01974, HG03870, HG01113, HG02685, HG01342, HG03779, HG03681, HG03019, HG03703, NA20888, NA19759, HG03729, HG01785, HG03600, HG01577, NA19785, HG01917, HG03896, HG03646, HG03977, HG03849, NA20852, NA21101, NA12830, HG03916, HG02291, HG03925, HG02348, NA19661, HG03882, NA19755, NA19758, HG02778, HG03890, NA20827, HG01097, HG01927, NA20908, HG01583
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630357
Frequency
Sample Size2504
Observed Gain0
Observed Loss171
Observed Complex0
Frequencyn/a


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