A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9804805



Internal ID18659492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22167685..22490430hg38UCSC Ensembl
Innerchr14:22635581..22959418hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38322746
hg19323838
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3583594
Supporting Variants
Samples400983PV
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=489
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9804805
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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