A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17741



Internal ID9955188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2378491..2566769hg38UCSC Ensembl
Innerchr8:2316216..2423859hg19UCSC Ensembl
Innerchr8:2303623..2411266hg18UCSC Ensembl
Innerchr8:2303623..2411266hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38188279
hg19107644
hg18107644
hg17107644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758145
Supporting Variants
SamplesNA10831
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)essv17741
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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