A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9788697



Internal ID18280642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53946867..54052964hg38UCSC Ensembl
Innerchr8:54859427..54965524hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38106098
hg19106098
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576573
Supporting Variants
Samples400068PW
Known GenesLYPLA1, RGS20, TCEA1
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=136
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9788697
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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