A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34525



Internal ID12990562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62751817..62806517hg38UCSC Ensembl
Innerchr5:62047644..62102344hg19UCSC Ensembl
Innerchr5:62083400..62138100hg18UCSC Ensembl
Innerchr5:62083400..62138100hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3854701
hg1954701
hg1854701
hg1754701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986893, essv6979574, essv6990382, essv6979573, essv6986894
SamplesNA18572
Known Genes
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)esv34525
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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