A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9776106



Internal ID18317869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138400001..138404935hg38UCSC Ensembl
Innerchr5:137735690..137740624hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384935
hg194935
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575885
Supporting Variants
Samples401125LM
Known GenesKDM3B
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=12
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9776106
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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