A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583399



Internal ID18711597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40846721..40870101hg38UCSC Ensembl
Innerchr19:41352626..41376006hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3823381
hg1923381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1048e212
Supporting Variantsessv9817553, essv9817554
Samples400496BL, 401177SL
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)esv3583399
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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