A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18357



Internal ID9616288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:140206922..140805888hg38UCSC Ensembl
Innerchr3:139925764..140524730hg19UCSC Ensembl
Innerchr3:141408454..142007420hg18UCSC Ensembl
Innerchr3:141408462..142007428hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38598967
hg19598967
hg18598967
hg17598967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757891
Supporting Variants
SamplesNA11994
Known GenesCLSTN2, CLSTN2-AS1, TRIM42
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)essv18357
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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