A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12251



Internal ID9609505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57393836..57561890hg38UCSC Ensembl
Innerchr8:58306395..58474449hg19UCSC Ensembl
Innerchr8:58468949..58637003hg18UCSC Ensembl
Innerchr8:58468949..58637003hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38168055
hg19168055
hg18168055
hg17168055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758161
Supporting Variants
SamplesNA19101
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)essv12251
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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