A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3578486

Internal ID18359998
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235124452..235134712hg38UCSC Ensembl
Innerchr1:235287767..235298027hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9807666, essv9807655, essv9807756, essv9807844, essv9807721, essv9807688, essv9807833, essv9807822, essv9807699, essv9807677, essv9807789, essv9807867, essv9807632, essv9807800, essv9807878, essv9807743, essv9807855, essv9807732, essv9807767, essv9807710, essv9807811, essv9807644, essv9807778
Samples400768MN, 400782IE, 4000046CJ, 400956AM, 401551MB, 400047DS, 400038CK, 400995MS, 401214BJ, 400852WJ, 400248JO, 401265CB, 401618HR, 400528LR, 401496SL, 401036WS, 401498HH, 400243CK, 401589HP, 401706BJ, 400272AE, 401460LW, 401402EN
Known GenesRBM34, SNORA14B, TOMM20
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
Pubmed ID25503493
Accession Number(s)esv3578486
Sample Size873
Observed Gain0
Observed Loss23
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer