A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873



Internal ID9628721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:33253615..33429981hg38UCSC Ensembl
Innerchr3:33295107..33471473hg19UCSC Ensembl
Innerchr3:33270111..33446477hg18UCSC Ensembl
Innerchr3:33270111..33446477hg17UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38176367
hg19176367
hg18176367
hg17176367
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757865
Supporting Variants
SamplesNA18605
Known GenesFBXL2, UBP1
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)essv6873
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