A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18828



Internal ID9959500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:91051766..91186887hg38UCSC Ensembl
Innerchr11:90784934..90920055hg19UCSC Ensembl
Innerchr11:90424582..90559703hg18UCSC Ensembl
Innerchr11:90424582..90559703hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38135122
hg19135122
hg18135122
hg17135122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758282
Supporting Variants
SamplesNA12751
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)essv18828
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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