A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21030



Internal ID9619260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:29482..756820hg38UCSC Ensembl
Innerchr3:71156..798503hg19UCSC Ensembl
Innerchr3:46156..773503hg18UCSC Ensembl
Innerchr3:46156..773503hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38727339
hg19727348
hg18727348
hg17727348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757853
Supporting Variants
SamplesNA06991
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)essv21030
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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