A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751901



Internal ID12985453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81960795..82081308hg38UCSC Ensembl
Innerchr2:82187919..82308432hg19UCSC Ensembl
Innerchr2:82041430..82161943hg18UCSC Ensembl
Innerchr2:82099577..82220090hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38120514
hg19120514
hg18120514
hg17120514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987428, essv6983820, essv6988718
SamplesBEC_630
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751901
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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