A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16980



Internal ID9614758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:29482..326726hg38UCSC Ensembl
Innerchr3:71156..368409hg19UCSC Ensembl
Innerchr3:46156..343409hg18UCSC Ensembl
Innerchr3:46156..343409hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38297245
hg19297254
hg18297254
hg17297254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757853
Supporting Variants
SamplesNA19144
Known GenesCHL1
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)essv16980
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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