A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5312



Internal ID9626988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:65792422..65954892hg38UCSC Ensembl
Innerchr11:65559893..65722363hg19UCSC Ensembl
Innerchr11:65316469..65478939hg18UCSC Ensembl
Innerchr11:65316469..65478939hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38162471
hg19162471
hg18162471
hg17162471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758274
Supporting Variants
SamplesNA18563
Known GenesC11orf68, CCDC85B, CFL1, CTSW, DRAP1, EFEMP2, FIBP, FOSL1, MUS81, OVOL1, SNX32, TSGA10IP
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)essv5312
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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