A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758409



Internal ID9633868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6598009..6888907hg38UCSC Ensembl
Innerchr16:6648010..6938908hg19UCSC Ensembl
Innerchr16:6588011..6878909hg18UCSC Ensembl
Innerchr16:6588011..6878909hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38290899
hg19290899
hg18290899
hg17290899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760072
Supporting Variantsessv16029
SamplesNA18501
Known GenesRBFOX1
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)esv2758409
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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