A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1366e212



Internal ID22784293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:31968630..31974717hg38UCSC Ensembl
chr3:32010122..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 Variants
Supporting Variantsesv3568679, esv3568680, esv3568678
Samples400141CC, 400523GB, 400773GS, 401994BD, 402074RR, 401200BD, 401203MP, 400152MR
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)dgv1366e212
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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