A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570362



Internal ID18351874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:114073698..114085390hg38UCSC Ensembl
Innerchr5:113409395..113421087hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3811693
hg1911693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9775896, essv9775892, essv9775895, essv9775901, essv9775888, essv9775904, essv9775903, essv9775891, essv9775885, essv9775899, essv9775898, essv9775897, essv9775894, essv9775905, essv9775886, essv9775893, essv9775887, essv9775902, essv9775890
Samples401005BL, 400455SJ, 400083TG, 401841OB, 400743LS, 401495NR, 401725MR, 401863BD, 401623SN, 400050RL, 401606CG, 401812HG, 400978JG, 401700BN, 400788PV, 400778SR, 401266HM, 401068SD, 400269DA
Known Genes
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)esv3570362
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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