A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3518



Internal ID9970000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19751489..20088028hg38UCSC Ensembl
Innerchr14:20219648..20556187hg19UCSC Ensembl
Innerchr14:19289488..19626027hg18UCSC Ensembl
Innerchr14:19289488..19626027hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38336540
hg19336540
hg18336540
hg17336540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758348
Supporting Variants
SamplesNA18965
Known GenesOR4K1, OR4K13, OR4K14, OR4K15, OR4K2, OR4K5, OR4L1, OR4M1, OR4N2
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)essv3518
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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