A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575841



Internal ID18704039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:58030440..58055986hg38UCSC Ensembl
Innerchr5:57326267..57351813hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3825547
hg1925547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1608e212
Supporting Variantsessv9775072, essv9775029, essv9775074, essv9775082, essv9775058, essv9775084, essv9775041, essv9775057, essv9775028, essv9775047, essv9775051, essv9775078, essv9775034, essv9775062, essv9775063, essv9775031, essv9775035, essv9775059, essv9775056, essv9775037, essv9775069, essv9775048, essv9775053, essv9775050, essv9775046, essv9775036, essv9775042, essv9775068, essv9775049, essv9775025, essv9775052, essv9775083, essv9775076, essv9775040, essv9775071, essv9775073, essv9775080, essv9775075, essv9775039, essv9775064, essv9775060, essv9775032, essv9775061, essv9775045, essv9775027, essv9775043, essv9775030, essv9775024, essv9775038, essv9775065, essv9775081, essv9775026, essv9775067, essv9775054, essv9775070, essv9775079
Samples401706BJ, 401806DL, 400927BD, 400364SS, 400984LD, 401275SJ, 400132HN, 402067KS, 400625FT, 400325BE, 400077EB, 401434VN, 400641WJ, 401426WD, 401355CD, 400225CJ, 401019MP, 400669LD, 401808PS, 400503HD, 400022WA, 401566DD, 400121PL, 401664SD, 400650RM, 400344DR, 400270BD, 401764JJ, 400763BT, 401505WI, 401085LA, 401652HL, 401879HJ, 401326LI, 401346FJ, 400050RL, 401443JK, 400450FG, 401700BN, 401359HF, 400136DM, 400654YW, 400103BN, 401016IT, 401611CD, 400128MJ, 400271SR, 400525MR, 401781SL, 401354KM, 400315DA, 400833BB, 400213DB, 400152MR, 401490TL, 401068SD
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)esv3575841
Frequency
Sample Size873
Observed Gain56
Observed Loss0
Observed Complex0
Frequencyn/a


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