A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35070



Internal ID12991106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:115739952..115979132hg38UCSC Ensembl
Innerchr2:116497528..116736708hg19UCSC Ensembl
Innerchr2:116213998..116453178hg18UCSC Ensembl
Innerchr2:116213758..116452938hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38239181
hg19239181
hg18239181
hg17239181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986862, essv6990363, essv6979423
SamplesNA18552
Known GenesDPP10
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)esv35070
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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