A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988718



Internal ID12975986
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 StatusS
Merged Variantsesv2751901
Supporting Variants
SamplesBEC_630
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988718
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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