A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9804813



Internal ID18317548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22175528..22497433hg38UCSC Ensembl
Innerchr14:22643425..22966418hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38321906
hg19322994
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3580978
Supporting Variants
Samples401112LG
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=490
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9804813
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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