A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583395



Internal ID18711593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40846784..40869879hg38UCSC Ensembl
Innerchr19:41352689..41375784hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3823096
hg1923096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1048e212
Supporting Variantsessv9817560, essv9817559
Samples400983PV, 401295HB
Known GenesCYP2A6
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)esv3583395
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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