A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6114



Internal ID9627879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:114501563..114648403hg38UCSC Ensembl
Innerchr11:114372285..114519125hg19UCSC Ensembl
Innerchr11:113877495..114024335hg18UCSC Ensembl
Innerchr11:113877495..114024335hg17UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38146841
hg19146841
hg18146841
hg17146841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758286
Supporting Variants
SamplesNA18532
Known GenesNXPE1, NXPE4
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)essv6114
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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