A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664320



Internal ID9930425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:46326318..46327024hg38UCSC Ensembl
Outerchr7:46325947..46327394hg38UCSC Ensembl
Innerchr7:46365916..46366622hg19UCSC Ensembl
Outerchr7:46365545..46366992hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5854341, essv6247641, essv6402739, essv5934903, essv5821911, essv5444781, essv6214115, essv5774198, essv5529367, essv5395818, essv5509451, essv6366500, essv6354312, essv5596594, essv6343156, essv5411143, essv5784049, essv5756002, essv6446972, essv5638012, essv6067222, essv6288633, essv5995693, essv6198254, essv5710961, essv6572927, essv5493225, essv5793137, essv6195276, essv6387784, essv5670450, essv5778054, essv6499313, essv5963670, essv6479339, essv6166231, essv6017050, essv5574325, essv5478310, essv5442604, essv6164485, essv5765290, essv6347437, essv5453754, essv5599934, essv6563838, essv6239966, essv5853209, essv5619736, essv5733388, essv6126694, essv6078740, essv5454983, essv5851036, essv5507132, essv5810943, essv5984180, essv5672113, essv6428293, essv5496688, essv6375400, essv5808408
SamplesHG00189, HG00361, HG00187, HG00315, HG00367, HG00318, HG00181, HG00179, HG00177, HG00337, HG00327, HG00271, HG00272, HG00173, HG00330, HG00346, HG00369, HG00270, HG00334, HG00185, HG00311, HG00281, HG00277, HG00335, HG00309, HG00182, HG00338, HG00178, HG00323, HG00313, HG00188, HG00268, HG00266, HG00183, HG00176, HG00282, HG00328, HG00190, HG00320, HG00344, HG00273, HG00373, HG00331, HG00276, HG00285, HG00366, HG00375, HG00278, HG00319, HG00269, HG00312, HG00329, HG00342, HG00174, HG00310, HG00186, HG00280, HG00343, HG00377, HG00372, HG00345, HG00180
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664320
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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