A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577939



Internal ID18706137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133438675..133563761hg38UCSC Ensembl
Innerchr10:135252179..135377265hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38125087
hg19125087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv304e212
Supporting Variantsessv9795302, essv9795301, essv9795300, essv9795295, essv9795297, essv9795298, essv9795296
Samples400439IM, 400313DF, 401318AV, 401346FJ, 401365DJ, 400312CR, 401135CS
Known GenesCYP2E1, SCART1, SYCE1
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)esv3577939
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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