A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568860



Internal ID18697058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:81545916..81551633hg38UCSC Ensembl
Innerchr3:81595067..81600784hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg385718
hg195718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1387e212
Supporting Variantsessv9767383, essv9767374, essv9767379, essv9767376, essv9767380, essv9767377, essv9767372, essv9767371, essv9767384, essv9767381, essv9767382, essv9767375, essv9767373
Samples400626FC, 401824MM, 401297KC, 400033KC, 401994BD, 400186WC, 401862AN, 401981GF, 400136DM, 400770MA, 401149VA, 401250WD, 400645KM
Known GenesGBE1
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)esv3568860
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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