A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19975



Internal ID9618085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:29482..501639hg38UCSC Ensembl
Innerchr3:71156..543322hg19UCSC Ensembl
Innerchr3:46156..518322hg18UCSC Ensembl
Innerchr3:46156..518322hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38472158
hg19472167
hg18472167
hg17472167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757853
Supporting Variants
SamplesNA12813
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)essv19975
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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