A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9804758



Internal ID18288565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22123863..22499871hg38UCSC Ensembl
Innerchr14:22591821..22968854hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38376009
hg19377034
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3580959
Supporting Variants
Samples400268SY
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
CommentsNumber of probes=618
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9804758
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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