A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34964



Internal ID12991000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49519454..49626810hg38UCSC Ensembl
Innerchr8:50432013..50539369hg19UCSC Ensembl
Innerchr8:50594566..50701922hg18UCSC Ensembl
Innerchr8:50594566..50701922hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38107357
hg19107357
hg18107357
hg17107357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv251e55
Supporting Variantsessv6978239, essv6978237, essv6978238, essv6986572, essv6978240
SamplesNA18990
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)esv34964
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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