A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570537



Internal ID18698735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166411024..166423045hg38UCSC Ensembl
Innerchr5:165838029..165850050hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3812022
hg1912022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9776685, essv9776686
Samples401384BP, 400267GD
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)esv3570537
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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