A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584428



Internal ID18712626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:3311885..3321411hg38UCSC Ensembl
Innerchr20:3292532..3302058hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg389527
hg199527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9819115, essv9819112, essv9819117, essv9819118, essv9819114, essv9819116, essv9819113
Samples400987FB, 400468OB, 401931JL, 400763BT, 401580CA, 401535RJ, 401608GE
Known GenesC20orf194
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)esv3584428
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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