A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570012



Internal ID18698210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17341538..17358160hg38UCSC Ensembl
Innerchr5:17341647..17358269hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3816623
hg1916623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1584e212
Supporting Variantsessv9774389, essv9774386, essv9774391, essv9774390, essv9774382, essv9774383, essv9774387, essv9774385, essv9774384
Samples400247CL, 401602PR, 401924ST, 400073HT, 400385LJ, 401762SD, 401952UH, 4000046CJ, 401056TJ
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)esv3570012
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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