A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2657477

Internal ID9576896
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1046717..1051023hg38UCSC Ensembl
Outerchr19:1046346..1051393hg38UCSC Ensembl
Innerchr19:1046716..1051022hg19UCSC Ensembl
Outerchr19:1046345..1051392hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6552844, essv6304477, essv6425358, essv6391441, essv6272073, essv5448928, essv5719094, essv5860734, essv5970805, essv5548578, essv5913086, essv5404759, essv5438262, essv6210101, essv5669361, essv6333689, essv5786831, essv5410904, essv6589719, essv5493791, essv5647180, essv6303869, essv5438609, essv6098520, essv5651721, essv5542189, essv5621896, essv6462374, essv5836821, essv6502939, essv5643615, essv6084471, essv6035770, essv6519977, essv6439031, essv5409368, essv6003504, essv5576140, essv6239659, essv6461943, essv6419096, essv5672043, essv5908243, essv5960462, essv6595248
SamplesHG00734, HG01072, HG01052, HG01075, HG01055, HG01173, HG01083, HG00736, HG01098, HG01079, HG01197, HG01051, HG01082, HG01174, HG01182, HG01167, HG01188, HG01204, HG01101, HG01168, HG00737, HG01171, HG01107, HG01048, HG01061, HG01183, HG01047, HG01187, HG01097, HG01191, HG01066, HG00732, HG01073, HG01170, HG01069, HG01176, HG01080, HG01070, HG01060, HG01190, HG01095, HG01108, HG01102, HG01067, HG01198
Known GenesABCA7
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2657477
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0

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