A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23388



Internal ID9955679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19751489..19947286hg38UCSC Ensembl
Innerchr14:20219648..20415445hg19UCSC Ensembl
Innerchr14:19289488..19485285hg18UCSC Ensembl
Innerchr14:19289488..19485285hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38195798
hg19195798
hg18195798
hg17195798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758348
Supporting Variants
SamplesNA10854
Known GenesOR4K1, OR4K2, OR4K5, 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)essv23388
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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