A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568232



Internal ID18696430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73534407..73572055hg38UCSC Ensembl
Innerchr14:74001111..74038759hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3837649
hg1937649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv656e212
Supporting Variantsessv9806623, essv9806620, essv9806622, essv9806624
Samples401064FR, 401165SB, 401661HD, 401912HD
Known GenesACOT1, ACOT2, HEATR4
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)esv3568232
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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