A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579980



Internal ID18361492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:132485442..132489431hg38UCSC Ensembl
Innerchr11:132355336..132359325hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg383990
hg193990
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3579980
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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