A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20276



Internal ID9958160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99391923..99826396hg38UCSC Ensembl
Innerchr8:100404151..100838624hg19UCSC Ensembl
Innerchr8:100473327..100907800hg18UCSC Ensembl
Innerchr8:100473327..100907800hg17UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38434474
hg19434474
hg18434474
hg17434474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758167
Supporting Variants
SamplesNA12144
Known GenesMIR599, MIR875, VPS13B
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)essv20276
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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