A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583432



Internal ID18711630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45056250..45059997hg38UCSC Ensembl
Innerchr19:45559508..45563255hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg383748
hg193748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9817637, essv9817629, essv9817646, essv9817624, essv9817649, essv9817633, essv9817627, essv9817638, essv9817648, essv9817639, essv9817650, essv9817640, essv9817636, essv9817642, essv9817645, essv9817630, essv9817628, essv9817625, essv9817641, essv9817635, essv9817631, essv9817634, essv9817626, essv9817647
Samples400132HN, 400512LR, 401966SR, 401899MB, 401253MC, 400528LR, 400127MD, 400526DR, 401664SD, 400442FE, 401050GS, 400763BT, 400093BL, 401039PA, 402074RR, 401334DH, 401016IT, 401295HB, 401277RA, 400271SR, 401543DC, 401177SL, 400213DB, 401510DG
Known GenesCLASRP
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)esv3583432
Frequency
Sample Size873
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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