A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568680



Internal ID18696878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:31968630..31974717hg38UCSC Ensembl
Innerchr3:32010122..32016209hg19UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg386088
hg196088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1366e212
Supporting Variantsessv9837728
Samples400773GS
Known GenesOSBPL10
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)esv3568680
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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