A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575397



Internal ID18356909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44053828..44064533hg38UCSC Ensembl
Innerchr21:45473709..45484414hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3810706
hg1910706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9820628, essv9820629
Samples400793BR, 402064DC
Known GenesTRAPPC10
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)esv3575397
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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