A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580918



Internal ID18709116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113497952..113503863hg38UCSC Ensembl
Innerchr13:114152267..114158178hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg385912
hg195912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv586e212
Supporting Variantsessv9804594
Samples401477ST
Known GenesTMCO3
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)esv3580918
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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