A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16751



Internal ID9614504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22584770..22760988hg38UCSC Ensembl
Innerchr16:22596091..22772309hg19UCSC Ensembl
Innerchr16:22503592..22679810hg18UCSC Ensembl
Innerchr16:22503592..22679810hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38176219
hg19176219
hg18176219
hg17176219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758415
Supporting Variants
SamplesNA18872
Known GenesMIR548AA2, MIR548D2
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)essv16751
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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