A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7531



Internal ID9629453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191149222..191299967hg38UCSC Ensembl
Innerchr3:190867011..191017756hg19UCSC Ensembl
Innerchr3:192349705..192500450hg18UCSC Ensembl
Innerchr3:192349713..192500458hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38150746
hg19150746
hg18150746
hg17150746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757910
Supporting Variants
SamplesNA18545
Known GenesOSTN, UTS2B
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)essv7531
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