A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579907



Internal ID18708105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:111374919..111376434hg38UCSC Ensembl
Innerchr11:111245644..111247159hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg381516
hg191516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9798834
Samples400686BM
Known GenesPOU2AF1
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)esv3579907
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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