A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674246



Internal ID9940351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91520149..91528708hg38UCSC Ensembl
chr8:92532377..92540936hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg388560
hg198560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5634086, essv6291393, essv6384160, essv5595868, essv5821390, essv5856286, essv5983523, essv5821393, essv6374706, essv6492555, essv6383111, essv5593004, essv6487526, essv6078141, essv6038358, essv6578851, essv6303108, essv5594489, essv5968433, essv5764448, essv5915005, essv5633399, essv5544883, essv5697469, essv5838585, essv5889379, essv5576983, essv5466196, essv5704096, essv5824041, essv5944995, essv5809199, essv6160040, essv5428748, essv6319690, essv6165769, essv5627016, essv6200610, essv6093093, essv5859068, essv6400064, essv5574586, essv6064012, essv5638575, essv5581274, essv6524230, essv6483726, essv5696635, essv5923176, essv6467093, essv5498968, essv5665231, essv5654454, essv6160735, essv5865673, essv6176411, essv5744408, essv5666498, essv5777039, essv5877404, essv5792659, essv5569771, essv6001057, essv6069000, essv6395034, essv5794961, essv5981233, essv5534456, essv5818024, essv5919414, essv5599283, essv6051196, essv6517102, essv6177612, essv5448118, essv6279572, essv5972631
SamplesNA12717, NA19397, NA18947, NA12286, NA19664, NA19204, NA19399, NA19914, NA19332, NA18565, HG01066, NA20752, NA19355, NA19819, NA19393, NA20507, NA12413, NA19446, NA19660, NA19448, HG01167, HG00346, NA19138, HG01069, NA19383, NA19917, NA19372, NA12044, NA19385, NA18986, NA19159, NA19901, HG00159, NA12828, NA19456, HG00178, NA18867, NA19200, NA20818, HG00629, NA20505, HG00428, NA18637, NA18626, HG00684, NA18856, HG01383, NA12892, HG01101, NA18963, NA12144, NA19318, NA18858, NA19436, NA19685, HG01148, NA19375, NA20522, NA19440, NA19834, NA18543, HG00625, NA19712, HG00366, NA20815, NA19380, NA20530, NA20527, HG00237, HG01108, HG00329, NA19468, NA19093, NA18636, HG01251, NA19463, NA18511
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674246
Frequency
Sample Size1151
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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