A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580645



Internal ID18708843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:53558835..53574953hg38UCSC Ensembl
Innerchr13:54132970..54149088hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3816119
hg1916119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv543e212
Supporting Variantsessv9803282, essv9803284, essv9803287, essv9803285, essv9803286, essv9803283
Samples401426WD, 400361HC, 400053LE, 400677HD, 400971MK, 400238BB
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)esv3580645
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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