A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575909



Internal ID18704107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177800537..177832927hg38UCSC Ensembl
Innerchr5:177227538..177259928hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3832391
hg1932391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1676e212
Supporting Variantsessv9776938, essv9776941, essv9776942, essv9776937, essv9776939, essv9776940
Samples401911FL, 400574MA, 400606HW, 400352CA, 401900RJ, 401795SP
Known Genes
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)esv3575909
Frequency
Sample Size873
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer