A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3575534

Internal ID18357046
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2445826..2446864hg38UCSC Ensembl
Innerchr3:2487510..2488548hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837359, essv9837363, essv9837373, essv9837378, essv9837351, essv9837331, essv9837350, essv9837357, essv9837333, essv9837328, essv9837382
Samples402054BD, 401911FL, 401027KW, 400451kh, 400368SD, 401842BJ, 401454CD, 400329HJ, 401050GS, 401166WJ, 401287CF
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
Pubmed ID25503493
Accession Number(s)esv3575534
Sample Size873
Observed Gain11
Observed Loss0
Observed Complex0

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