A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758168



Internal ID9980245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:113563474..114309728hg38UCSC Ensembl
Innerchr8:114575703..115321957hg19UCSC Ensembl
Innerchr8:114644879..115391133hg18UCSC Ensembl
Innerchr8:114644879..115391133hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38746255
hg19746255
hg18746255
hg17746255
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759636
Supporting Variantsessv20921, essv10146
SamplesNA12801, NA19130
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)esv2758168
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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