A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575614



Internal ID18357126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142102321..142366915hg38UCSC Ensembl
Innerchr3:141821163..142085757hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38264595
hg19264595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1412e212
Supporting Variantsessv9768438
Samples400337HG
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3575614
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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