A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583252



Internal ID18711450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12380573..12384918hg38UCSC Ensembl
Innerchr19:12491387..12495732hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384346
hg194346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9816810, essv9816812, essv9816785, essv9816801, essv9816806, essv9816799, essv9816790, essv9816808, essv9816802, essv9816786, essv9816803, essv9816796, essv9816791, essv9816794, essv9816805, essv9816788, essv9816793, essv9816787, essv9816809, essv9816804, essv9816797, essv9816798, essv9816795, essv9816807, essv9816792
Samples401380OL, 401074CM, 400068PW, 401721CP, 400241CP, 400893ZE, 400061DE, 400033KC, 401303FM, 400763BT, 401085LA, 401655DC, 401540NA, 401357MH, 401652HL, 401862AN, 400800MW, 401606CG, 400361HC, 400171BJ, 401087SF, 401889FR, 400053LE, 400235MP, 401912HD
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)esv3583252
Frequency
Sample Size873
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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