A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580784



Internal ID18708982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:82570838..82594819hg38UCSC Ensembl
Innerchr13:83144973..83168954hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3823982
hg1923982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv563e212
Supporting Variantsessv9803924, essv9803925
Samples401385BB, 402073LQ
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)esv3580784
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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