A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575321



Internal ID18703519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:196175728..196196043hg38UCSC Ensembl
Innerchr2:197040452..197060767hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3820316
hg1920316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1201e212
Supporting Variantsessv9836274, essv9836273, essv9836271, essv9836270, essv9836272
Samples401500OM, 401258PC, 401831TW, 401873BK, 401075MN
Known Genes
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)esv3575321
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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