A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34882



Internal ID12990918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:240568..460640hg38UCSC Ensembl
Innerchr8:190568..410640hg19UCSC Ensembl
Innerchr8:180568..400640hg18UCSC Ensembl
Innerchr8:180568..400640hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38220073
hg19220073
hg18220073
hg17220073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv240e55
Supporting Variantsessv6980581, essv6980583, essv6980582, essv6990500, essv6986029
SamplesNA19211
Known GenesFAM87A, FBXO25, ZNF596
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)esv34882
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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