A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34400



Internal ID12990439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18488160..18780535hg38UCSC Ensembl
Innerchr13:19062300..19354675hg19UCSC Ensembl
Innerchr13:17960300..18252675hg18UCSC Ensembl
Innerchr13:17960300..18252675hg17UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38292376
hg19292376
hg18292376
hg17292376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv73e55
Supporting Variantsessv6990288, essv6986715, essv6978818
SamplesNA12716
Known GenesLINC00417
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)esv34400
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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