A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34901



Internal ID12990937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:12283944..12589068hg38UCSC Ensembl
Innerchr9:12283944..12589068hg19UCSC Ensembl
Innerchr9:12273944..12579068hg18UCSC Ensembl
Innerchr9:12273944..12579068hg17UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38305125
hg19305125
hg18305125
hg17305125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980817, essv6987857, essv6980816, essv6980815, essv6987856
SamplesNA19130
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)esv34901
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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