A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758423



Internal ID9633882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:47282955..47572376hg38UCSC Ensembl
Innerchr16:47316866..47606287hg19UCSC Ensembl
Innerchr16:45874367..46163788hg18UCSC Ensembl
Innerchr16:45874367..46163788hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38289422
hg19289422
hg18289422
hg17289422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758644
Supporting Variantsessv2683
SamplesNA18967
Known GenesITFG1, PHKB
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)esv2758423
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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