A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34807



Internal ID12990843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:50825427..50970887hg38UCSC Ensembl
Innerchr8:51737987..51883447hg19UCSC Ensembl
Innerchr8:51900540..52046000hg18UCSC Ensembl
Innerchr8:51900540..52046000hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38145461
hg19145461
hg18145461
hg17145461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978850, essv6978849, essv6986726
SamplesNA12740
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)esv34807
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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