A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15543



Internal ID9974692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2169690..2343278hg38UCSC Ensembl
Innerchr8:2117613..2292234hg19UCSC Ensembl
Innerchr8:2105020..2279641hg18UCSC Ensembl
Innerchr8:2105020..2279641hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38173589
hg19174622
hg18174622
hg17174622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758145
Supporting Variants
SamplesNA19137
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)essv15543
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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