A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34879



Internal ID12990915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:30117314..30398369hg38UCSC Ensembl
Innerchr9:30117312..30398367hg19UCSC Ensembl
Innerchr9:30107312..30388367hg18UCSC Ensembl
Innerchr9:30107312..30388367hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38281056
hg19281056
hg18281056
hg17281056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988338, essv6980968, essv6985450, essv6980967
SamplesNA19154
Known GenesLOC401497
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)esv34879
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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