A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569116



Internal ID18697314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:172247839..172250312hg38UCSC Ensembl
Innerchr3:171965629..171968102hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg382474
hg192474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9768908, essv9768907
Samples401975VD, 401050GS
Known GenesFNDC3B
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)esv3569116
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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