A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582771



Internal ID18364283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:103032454..103049436hg38UCSC Ensembl
Innerchr13:103684804..103701786hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3816983
hg1916983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv580e212
Supporting Variantsessv9804417, essv9804419, essv9804420, essv9804416, essv9804418
Samples400701MM, 401491BB, 400041LJ, 401200BD, 401735LE
Known GenesSLC10A2
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)esv3582771
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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