A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580851



Internal ID18362363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:96735648..96748467hg38UCSC Ensembl
Innerchr13:97387902..97400721hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3812820
hg1912820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv576e212
Supporting Variantsessv9804258, essv9804252, essv9804251, essv9804256, essv9804250, essv9804253, essv9804259, essv9804257, essv9804254
Samples401146US, 400132HN, 401426WD, 400022WA, 401873BK, 402074RR, 401295HB, 401858TP, 400106PC
Known GenesHS6ST3
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)esv3580851
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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