A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9772759



Internal ID18319654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155855410..156699594hg38UCSC Ensembl
Innerchr4:156776562..157620746hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38844185
hg19844185
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575777
Supporting Variants
Samples401183HP
Known GenesASIC5, CTSO, TDO2
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=661
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9772759
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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