A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758166



Internal ID9980243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99016620..99184453hg38UCSC Ensembl
Innerchr8:100028848..100196681hg19UCSC Ensembl
Innerchr8:100098024..100265857hg18UCSC Ensembl
Innerchr8:100098024..100265857hg17UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38167834
hg19167834
hg18167834
hg17167834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759632
Supporting Variantsessv21732, essv872, essv10358, essv5338, essv8248, essv11718, essv16993, essv4857, essv9929
SamplesNA19145, NA12248, NA18563, NA19000, NA19154, NA18540, NA19144, NA18506, NA19116
Known GenesVPS13B
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)esv2758166
Frequency
Sample Size270
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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