A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583334



Internal ID18364846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:29201876..29211343hg38UCSC Ensembl
Innerchr19:29692783..29702250hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg389468
hg199468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1034e212
Supporting Variantsessv9817141, essv9817140, essv9817145, essv9817142, essv9817143, essv9817147, essv9817146
Samples401415CB, 401845MJ, 401582GG, 400929MM, 400352CA, 400291VJ, 400300SD
Known GenesUQCRFS1
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)esv3583334
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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