A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21828



Internal ID9620145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:76117143..76803223hg38UCSC Ensembl
Innerchr3:76166294..76852374hg19UCSC Ensembl
Innerchr3:76248984..76935064hg18UCSC Ensembl
Innerchr3:76248984..76935064hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38686081
hg19686081
hg18686081
hg17686081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757876, esv2757877
Supporting Variants
SamplesNA11839
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)essv21828
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer