A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3483



Internal ID9971698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:116601155..116699723hg38UCSC Ensembl
Innerchr4:117522311..117620879hg19UCSC Ensembl
Innerchr4:117741759..117840327hg18UCSC Ensembl
Innerchr4:117879914..117978482hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3898569
hg1998569
hg1898569
hg1798569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757951
Supporting Variants
SamplesNA18992
Known Genes
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)essv3483
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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