A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9795309



Internal ID18648013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133439394..133563761hg38UCSC Ensembl
Innerchr10:135252898..135377265hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38124368
hg19124368
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577928
Supporting Variants
Samples400622SJ
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
CommentsNumber of probes=232
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9795309
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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