A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35019



Internal ID12991055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:115902597..116093334hg38UCSC Ensembl
Innerchr8:116914822..117105559hg19UCSC Ensembl
Innerchr8:116984000..117174737hg18UCSC Ensembl
Innerchr8:116984000..117174737hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38190738
hg19190738
hg18190738
hg17190738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986914, essv6979629, essv6979628
SamplesNA18582
Known GenesLINC00536, MIR6507
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)esv35019
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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