A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9771222



Internal ID18319562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68496854..68620109hg38UCSC Ensembl
Innerchr4:69362572..69485827hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38123256
hg19123256
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575733
Supporting Variants
Samples401182OC
Known GenesTMPRSS11E, UGT2B17
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=51
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9771222
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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