A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9401



Internal ID9631531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:29142404..29324104hg38UCSC Ensembl
Innerchr3:29183895..29365595hg19UCSC Ensembl
Innerchr3:29158899..29340599hg18UCSC Ensembl
Innerchr3:29158899..29340599hg17UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38181701
hg19181701
hg18181701
hg17181701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757864
Supporting Variants
SamplesNA18853
Known GenesRBMS3
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)essv9401
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