A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17820



Internal ID9955110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:85691970..85959058hg38UCSC Ensembl
Innerchr14:86158314..86425402hg19UCSC Ensembl
Innerchr14:85228067..85495155hg18UCSC Ensembl
Innerchr14:85228067..85495155hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38267089
hg19267089
hg18267089
hg17267089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758366
Supporting Variants
SamplesNA10831
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)essv17820
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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