A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574519



Internal ID18702717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40854656..40885857hg38UCSC Ensembl
Innerchr19:41360561..41391762hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3831202
hg1931202
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1051e212
Supporting Variantsessv9817597
Samples400135DR
Known GenesCYP2A7
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)esv3574519
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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