A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv425e212



Internal ID19007633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132485442..132489431hg38UCSC Ensembl
chr11:132355336..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 Variants
Supporting Variantsesv3579983, esv3579980
Samples400773GS, 401972BA, 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)dgv425e212
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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