A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv426e212



Internal ID22783353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133122488..133132506hg38UCSC Ensembl
chr11:132992383..133002401hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3810019
hg1910019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579988, esv3579989
Samples400927BD, 401196CR, 401856GC, 401725MR, 400319HT, 400069CN
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)dgv426e212
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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