A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9806624



Internal ID18344537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73534407..73572055hg38UCSC Ensembl
Innerchr14:74001111..74038759hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3837649
hg1937649
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3568232
Supporting Variants
Samples401912HD
Known GenesACOT1, ACOT2, 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
CommentsNumber of probes=31
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9806624
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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