A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568678



Internal ID18696876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:31968630..31974328hg38UCSC Ensembl
Innerchr3:32010122..32015820hg19UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg385699
hg195699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1366e212
Supporting Variantsessv9837724, essv9837723, essv9837726, essv9837722, essv9837725, essv9837720
Samples400141CC, 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)esv3568678
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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