A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9811213



Internal ID18628672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70008827..70163851hg38UCSC Ensembl
Innerchr16:70042730..70197754hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38155025
hg19155025
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3571454
Supporting Variants
Samples400094RS
Known GenesMIR1972-1, MIR1972-2, PDPR, PDXDC2P
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
CommentsNumber of probes=18
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9811213
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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