A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9790483



Internal ID18321341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:20256339..20660859hg38UCSC Ensembl
Innerchr9:20256337..20660858hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38404521
hg19404522
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576641
Supporting Variants
Samples401239PR
Known GenesFOCAD, MIR4473, MIR4474, MLLT3
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=543
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9790483
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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