A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275216



Internal ID1436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117566191..117569896hg38UCSC Ensembl
Outerchr11:117565741..117570292hg38UCSC Ensembl
Innerchr11:117436906..117440611hg19UCSC Ensembl
Outerchr11:117436456..117441007hg19UCSC Ensembl
Innerchr11:116942116..116945821hg18UCSC Ensembl
Outerchr11:116941666..116946217hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg384552
hg194552
hg184552
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585836, essv2586031
Samples
Known GenesDSCAML1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275216
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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