A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21464



Internal ID9619741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:29482..201595hg38UCSC Ensembl
Innerchr3:71156..243278hg19UCSC Ensembl
Innerchr3:46156..218278hg18UCSC Ensembl
Innerchr3:46156..218278hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38172114
hg19172123
hg18172123
hg17172123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757853
Supporting Variants
SamplesNA12717
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)essv21464
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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