A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv842e212



Internal ID20149298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55806374..55834514hg38UCSC Ensembl
chr16:55840286..55868426hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3828141
hg1928141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571254, esv3571365
Samples401780BB, 400427SD, 401771OS
Known GenesCES1
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)dgv842e212
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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