A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34613



Internal ID12990649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:50014033..50167806hg38UCSC Ensembl
Innerchr11:50035553..50126977hg19UCSC Ensembl
Innerchr11:49992129..50083553hg18UCSC Ensembl
Innerchr11:49992129..50083553hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38153774
hg1991425
hg1891425
hg1791425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979110, essv6990327, essv6979109
SamplesNA12892
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34613
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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