A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568109



Internal ID18349621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73529057..73557327hg38UCSC Ensembl
Innerchr14:73995761..74024031hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3828271
hg1928271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv653e212
Supporting Variantsessv9806427, essv9806430, essv9806439, essv9806424, essv9806426, essv9806425, essv9806423
Samples400320RN, 401230NL, 400171BJ, 400454RE, 400213DB, 400300SD, 400243CK
Known GenesACOT1, HEATR4
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)esv3568109
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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