A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv833e212



Internal ID22783760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55762464..55776096hg38UCSC Ensembl
chr16:55796376..55810008hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3813633
hg1913633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571287, esv3571265, esv3571219
Samples400619MP, 401927SK, 401857VG, 400453LN, 401030GI, 400241CP, 402038MR, 401979TB, 401443JK, 401087SF, 401203MP, 400246MG, 400833BB, 400581VJ, 401932GN, 400238BB, 400532MH
Known GenesCES1P1
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)dgv833e212
Frequency
Sample Size873
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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