A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585836



Internal ID729
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275216
Supporting Variants
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)essv2585836
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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