A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16139



Internal ID9613824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68928830..69746610hg18UCSC Ensembl
Innerchr4:69075001..69892781hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg18817781
hg17817781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757940
Supporting Variants
SamplesNA19100
Known GenesTMPRSS11E, UGT2B10, UGT2B15, UGT2B17
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)essv16139
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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