A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579933



Internal ID18708131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:122083862..122088686hg38UCSC Ensembl
Innerchr11:121954570..121959394hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg384825
hg194825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv418e212
Supporting Variantsessv9799036, essv9799032, essv9799038, essv9799034, essv9799035, essv9799037
Samples401077VC, 400320RN, 400060MC, 401619BT, 401010HT, 400138LA
Known Genes
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)esv3579933
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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