A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568153



Internal ID18696351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30705096..30711259hg38UCSC Ensembl
Innerchr21:32077414..32083577hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg386164
hg196164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9820223, essv9820224
Samples400688FL, 401942MP
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)esv3568153
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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