A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760002



Internal ID9982147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:82569363..82680453hg38UCSC Ensembl
Innerchr14:83035707..83146797hg19UCSC Ensembl
Innerchr14:82105460..82216550hg18UCSC Ensembl
Innerchr14:82105460..82216550hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38111091
hg19111091
hg18111091
hg17111091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758364
SamplesNA18959
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)esv2760002
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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