A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570282



Internal ID18698480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:98729778..98765960hg38UCSC Ensembl
Innerchr5:98065482..98101664hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3836183
hg1936183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9775629, essv9775630
Samples401693RC, 400508RD
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)esv3570282
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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