A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10146



Internal ID9974335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:114083847..114244895hg38UCSC Ensembl
Innerchr8:115096076..115257124hg19UCSC Ensembl
Innerchr8:115165252..115326300hg18UCSC Ensembl
Innerchr8:115165252..115326300hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38161049
hg19161049
hg18161049
hg17161049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758168
Supporting Variants
SamplesNA19130
Known Genes
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)essv10146
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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