A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16927



Internal ID9614699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129108051..129392472hg38UCSC Ensembl
Innerchr2:129865624..130150045hg19UCSC Ensembl
Innerchr2:129582094..129866515hg18UCSC Ensembl
Innerchr2:129581854..129866275hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38284422
hg19284422
hg18284422
hg17284422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757833
Supporting Variants
SamplesNA19144
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)essv16927
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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