A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1028e212



Internal ID20149484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:20646607..20814524hg38UCSC Ensembl
chr19:20829413..20997330hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38167918
hg19167918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574364, esv3574342, esv3574353
Samples401414CR, 401864CV, 401154BR, 400338SR
Known GenesZNF626
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)dgv1028e212
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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