A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669072



Internal ID9935177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:16941093..16949699hg38UCSC Ensembl
Outerchr4:16940722..16950069hg38UCSC Ensembl
Innerchr4:16942716..16951322hg19UCSC Ensembl
Outerchr4:16942345..16951692hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg389348
hg199348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5659731, essv6492897, essv5402052, essv5935717, essv6264341, essv6014879, essv5657952, essv6164807, essv6451493
SamplesHG00537, HG00512, HG00419, HG00556, HG00479, HG00473, HG00418, HG00513, HG00421
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669072
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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