A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1046e212



Internal ID22783973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40839410..40886237hg38UCSC Ensembl
chr19:41345315..41392142hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3846828
hg1946828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574453, esv3574475
Samples400493KH, 401817MC
Known GenesCYP2A6, CYP2A7
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)dgv1046e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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