A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1358



Internal ID9972439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:86722954..86875869hg38UCSC Ensembl
Innerchr14:87189298..87342213hg19UCSC Ensembl
Innerchr14:86259051..86411966hg18UCSC Ensembl
Innerchr14:86259051..86411966hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38152916
hg19152916
hg18152916
hg17152916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758367
Supporting Variants
SamplesNA19007
Known Genes
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)essv1358
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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