A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581252



Internal ID18362764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66925463..66933551hg38UCSC Ensembl
Innerchr14:67392180..67400268hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg388089
hg198089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9805973, essv9805970, essv9805972, essv9805975, essv9805971, essv9805974
Samples400788PV, 401931JL, 400871CM, 400512LR, 401166WJ, 400970VE
Known GenesGPHN
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)esv3581252
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer