A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582880



Internal ID18711078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67435294..67448753hg38UCSC Ensembl
Innerchr17:65431410..65444869hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3813460
hg1913460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv964e212
Supporting Variantsessv9815248, essv9815252, essv9815249, essv9815243, essv9815240, essv9815242, essv9815250, essv9815241, essv9815247, essv9815245, essv9815246, essv9815251
Samples401191MI, 400594VJ, 400626FC, 401013GJ, 400994HJ, 401326LI, 401346FJ, 400695PH, 400295PS, 401287CF, 400410CD, 401735LE
Known GenesPITPNC1
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)esv3582880
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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