A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987962



Internal ID12625475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241979097..242060097hg38UCSC Ensembl
Innerchr2:242921248..243002248hg19UCSC Ensembl
Innerchr2:242569921..242650921hg18UCSC Ensembl
Innerchr2:242637000..242718000hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3881001
hg1981001
hg1881001
hg1781001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751859
Supporting Variants
SamplesBEC_236
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987962
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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