A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3117



Internal ID9624549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195652612..195947402hg38UCSC Ensembl
Innerchr3:195379483..195674273hg19UCSC Ensembl
Innerchr3:196864664..197158670hg18UCSC Ensembl
Innerchr3:196868577..197162583hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38294791
hg19294791
hg18294007
hg17294007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757913
Supporting Variants
SamplesNA18969
Known GenesMIR570, MIR6829, MUC20, MUC4, SDHAP2, TNK2
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)essv3117
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