A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9768437



Internal ID18345643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142100008..142366915hg38UCSC Ensembl
Innerchr3:141818850..142085757hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38266908
hg19266908
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575613
Supporting Variants
Samples401940SJ
Known GenesGK5, TFDP2, XRN1
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=212
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9768437
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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