A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661156



Internal ID9927261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240267050..240271249hg38UCSC Ensembl
Outerchr2:240266893..240271402hg38UCSC Ensembl
Innerchr2:241206467..241210666hg19UCSC Ensembl
Outerchr2:241206310..241210819hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384510
hg194510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6217541, essv5875373, essv6366774, essv6241202
SamplesNA18519, NA18907, NA18856, NA19099
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661156
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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