A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2878



Internal ID9969486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:27771245..27974036hg38UCSC Ensembl
Innerchr14:28240451..28443242hg19UCSC Ensembl
Innerchr14:27310291..27513082hg18UCSC Ensembl
Innerchr14:27310291..27513082hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38202792
hg19202792
hg18202792
hg17202792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758351
Supporting Variants
SamplesNA18953
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)essv2878
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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