A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577972



Internal ID18706170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133420623..133559097hg38UCSC Ensembl
Innerchr10:135234127..135372601hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38138475
hg19138475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv304e212
Supporting Variantsessv9795279, essv9795280
Samples401513KC, 401112LG
Known GenesCYP2E1, MTG1, SCART1, SPRN, 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)esv3577972
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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