A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581084



Internal ID18709282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23986203..24024943hg38UCSC Ensembl
Innerchr14:24455412..24494152hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3838741
hg1938741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv618e212
Supporting Variantsessv9805102
Samples400743LS
Known GenesDHRS4L1, DHRS4L2
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)esv3581084
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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