A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677281



Internal ID9943386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239658322..239660428hg38UCSC Ensembl
Outerchr2:239657951..239660798hg38UCSC Ensembl
Innerchr2:240580016..240582122hg19UCSC Ensembl
Outerchr2:240579645..240582492hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6244131, essv6301932, essv5664848, essv6147488, essv5878831, essv6480856, essv6029297, essv5591448, essv6031782, essv5982671, essv6332716, essv6281548, essv6107543, essv5511365, essv6243353, essv5815936, essv6005788, essv5449057, essv6425016, essv6587486, essv6379578, essv6267229, essv5628603, essv5572389, essv5602197, essv5495799, essv5853200, essv6413867, essv6122980, essv6380177, essv5434371, essv6200495, essv5954494, essv6492266, essv6273995, essv5859143, essv5547281, essv5495534, essv5760615, essv6229984, essv6103339, essv6213125, essv5617720, essv5533322, essv5591724, essv5557024, essv5568873
SamplesHG00249, HG00257, HG00261, HG00138, HG00251, HG00158, HG00139, HG00120, HG00148, HG00236, HG00156, HG00262, HG00232, HG00160, HG00159, HG00253, HG00264, HG00108, HG00260, HG00137, HG00133, HG00154, HG00245, HG00263, HG00250, HG00117, HG00157, HG00140, HG01334, HG00146, HG00246, HG00258, HG00124, HG00155, HG00254, HG00119, HG00136, HG00237, HG00116, HG00256, HG00125, HG00111, HG00259, HG00123, HG00112, HG00131, HG00252
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677281
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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