A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568556



Internal ID18350068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2445826..2446849hg38UCSC Ensembl
Innerchr3:2487510..2488533hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381024
hg191024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1350e212
Supporting Variantsessv9837314, essv9837313, essv9837311, essv9837309, essv9837312
Samples400148MS, 401563TK, 401813DN, 400800MW, 400177CG
Known GenesCNTN4
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)esv3568556
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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