A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34364



Internal ID12990403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2147517..2530849hg38UCSC Ensembl
Innerchr8:2095441..2387976hg19UCSC Ensembl
Innerchr8:2082848..2375383hg18UCSC Ensembl
Innerchr8:2082848..2375383hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38383333
hg19292536
hg18292536
hg17292536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978204, essv6986559, essv6978203, essv6990208, essv6986558
SamplesNA18976
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)esv34364
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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