A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568980



Internal ID18697178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:120758311..120763105hg38UCSC Ensembl
Innerchr3:120477158..120481952hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg384795
hg194795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1404e212
Supporting Variantsessv9768081, essv9768064, essv9768085, essv9768071, essv9768073, essv9768063, essv9768079, essv9768080, essv9768061, essv9768066, essv9768087, essv9768083, essv9768069, essv9768084, essv9768088, essv9768093, essv9768059, essv9768091, essv9768076, essv9768074, essv9768060, essv9768092, essv9768062, essv9768070, essv9768065, essv9768072, essv9768086, essv9768068, essv9768082, essv9768077, essv9768075
Samples401986LC, 401673DM, 400140WM, 401911FL, 400866RR, 400899NK, 400453LN, 401190WC, 401253MC, 400298ME, 400066MA, 400749VW, 401252AE, 400478WE, 400198MD, 400218WK, 401526WB, 400123WN, 401981GF, 401410BJ, 400943DV, 400671PP, 401496SL, 400722OM, 400156WT, 402008MC, 401763SG, 400835FD, 400012CJ, 401254AE, 401068SD
Known GenesGTF2E1
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)esv3568980
Frequency
Sample Size873
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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