A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9809612



Internal ID18318307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:243389..278107hg38UCSC Ensembl
Innerchr16:293388..328107hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3834719
hg1934720
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3570031
Supporting Variants
Samples401146US
Known GenesITFG3, RGS11
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=60
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9809612
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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