A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568554



Internal ID18350066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2445826..2446827hg38UCSC Ensembl
Innerchr3:2487510..2488511hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1350e212
Supporting Variantsessv9837307, essv9837304, essv9837302, essv9837305, essv9837306, essv9837308, essv9837303, essv9837301
Samples401636WR, 402028BD, 401908YM, 400763BT, 400888MS, 400053LE, 400267GD, 401912HD
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)esv3568554
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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