A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580734



Internal ID18708932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68668110..68690540hg38UCSC Ensembl
Innerchr13:69242242..69264672hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3822431
hg1922431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv557e212
Supporting Variantsessv9803672, essv9803673, essv9803671, essv9803670
Samples401442WR, 401113MJ, 400609FJ, 400923OA
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)esv3580734
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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