A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18395



Internal ID9958988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136504546..136958987hg38UCSC Ensembl
Innerchr8:137516789..137971230hg19UCSC Ensembl
Innerchr8:137585971..138040412hg18UCSC Ensembl
Innerchr8:137585971..138040412hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38454442
hg19454442
hg18454442
hg17454442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758172
Supporting Variants
SamplesNA12249
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)essv18395
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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