A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9819128



Internal ID18321384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:5954200..6068502hg38UCSC Ensembl
Innerchr20:5934846..6049148hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38114303
hg19114303
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575356
Supporting Variants
Samples401240ML
Known GenesCRLS1, LRRN4, MCM8
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=120
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9819128
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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