A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8865



Internal ID9630934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18403952..18658666hg38UCSC Ensembl
Innerchr16:18497809..18669988hg19UCSC Ensembl
Innerchr16:18405310..18577489hg18UCSC Ensembl
Innerchr16:18405310..18577489hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38254715
hg19172180
hg18172180
hg17172180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758413
Supporting Variants
SamplesNA18508
Known GenesABCC6P1, MIR3179-1, MIR3179-2, MIR3179-3, NOMO2
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)essv8865
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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