A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581379



Internal ID18362891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:89365733..89369913hg38UCSC Ensembl
Innerchr14:89832077..89836257hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg384181
hg194181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9807121, essv9807126, essv9807123, essv9807124, essv9807125
Samples401619BT, 401505WI, 400204SC, 400455SJ, 400265LK
Known GenesFOXN3
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)esv3581379
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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