A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568114



Internal ID18696312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:17320515..17333664hg38UCSC Ensembl
Innerchr21:18692834..18705983hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3813150
hg1913150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9820102, essv9820101
Samples400272AE, 401182OC
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)esv3568114
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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