A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3003



Internal ID9624423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67843353..67935547hg38UCSC Ensembl
Innerchr11:67610824..67703018hg19UCSC Ensembl
Innerchr11:67367400..67459594hg18UCSC Ensembl
Innerchr11:67367400..67459594hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3892195
hg1992195
hg1892195
hg1792195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758275
Supporting Variants
SamplesNA18981
Known Genes
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)essv3003
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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