A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568567



Internal ID18350079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2927006..2931979hg38UCSC Ensembl
Innerchr3:2968690..2973663hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg384974
hg194974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837416, essv9837414, essv9837418, essv9837415, essv9837423, essv9837412, essv9837420, essv9837413, essv9837409, essv9837419, essv9837411, essv9837422, essv9837417
Samples400545EW, 401136LB, 400643LD, 400649PS, 401567BD, 401783BD, 401029SD, 401079HJ, 401419SW, 401406KF, 401084BD, 401036WS, 400308SP
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)esv3568567
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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