A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34685



Internal ID12990721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:612167..718872hg38UCSC Ensembl
Innerchr9:612167..718872hg19UCSC Ensembl
Innerchr9:602167..708872hg18UCSC Ensembl
Innerchr9:602167..708872hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38106706
hg19106706
hg18106706
hg17106706
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv255e55
Supporting Variantsessv6979921, essv6988269, essv6979923, essv6979924, essv6979922
SamplesNA18860
Known GenesKANK1
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)esv34685
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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