A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758158



Internal ID9633617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52748233..53030490hg38UCSC Ensembl
Innerchr8:53660793..53943050hg19UCSC Ensembl
Innerchr8:53823346..54105603hg18UCSC Ensembl
Innerchr8:53823346..54105603hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38282258
hg19282258
hg18282258
hg17282258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759615
Supporting Variantsessv1731
SamplesNA18997
Known GenesNPBWR1
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)esv2758158
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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