A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34835



Internal ID12990871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:81627999..81737473hg38UCSC Ensembl
Innerchr11:81339041..81448515hg19UCSC Ensembl
Innerchr11:81016689..81126163hg18UCSC Ensembl
Innerchr11:81016689..81126163hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38109475
hg19109475
hg18109475
hg17109475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988247, essv6979808, essv6988248, essv6979809, essv6989121
SamplesNA18633
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)esv34835
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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