A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34778



Internal ID12990814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5864481..5947955hg38UCSC Ensembl
Innerchr11:5885711..5969185hg19UCSC Ensembl
Innerchr11:5842287..5925761hg18UCSC Ensembl
Innerchr11:5842287..5925761hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3883475
hg1983475
hg1883475
hg1783475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv40e55
Supporting Variantsessv6986887, essv6979551
SamplesNA18571
Known GenesOR52E4, OR56A3
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)esv34778
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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