A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20059



Internal ID9618180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73493593..73660367hg38UCSC Ensembl
Innerchr14:73960297..74127070hg19UCSC Ensembl
Innerchr14:73030050..73196823hg18UCSC Ensembl
Innerchr14:73030050..73196823hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38166775
hg19166774
hg18166774
hg17166774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758361
Supporting Variants
SamplesNA07048
Known GenesACOT1, ACOT2, ACOT4, ACOT6, DNAL1, HEATR4
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv20059
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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