A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3579980

Internal ID18361492
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:132485442..132489431hg38UCSC Ensembl
Innerchr11:132355336..132359325hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv425e212
Supporting Variantsessv9799218, essv9799225, essv9799224, essv9799217, essv9799216, essv9799220, essv9799226, essv9799215, essv9799221, essv9799227, essv9799219, essv9799223
Samples400773GS, 400788PV, 400572PJ, 400515ZG, 400353ML, 400600DP, 401315HK, 400717BD, 401778CB, 400483DP, 400138LA, 401813DN
Known GenesOPCML
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Pubmed ID25503493
Accession Number(s)esv3579980
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0

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