A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11975



Internal ID9609197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197556879..197608406hg38UCSC Ensembl
Innerchr3:197283750..197335277hg19UCSC Ensembl
Innerchr3:198768147..198819674hg18UCSC Ensembl
Innerchr3:198772060..198823587hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3851528
hg1951528
hg1851528
hg1751528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757914
Supporting Variants
SamplesNA18517
Known GenesBDH1
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)essv11975
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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