A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580911



Internal ID18709109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113492505..113504635hg38UCSC Ensembl
Innerchr13:114146820..114158950hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3812131
hg1912131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv585e212
Supporting Variantsessv9804590, essv9804591, essv9804592
Samples401950MD, 400520FM, 400291VJ
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)esv3580911
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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