A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758001



Internal ID9633460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81914406..82218918hg38UCSC Ensembl
Innerchr5:81210225..81514737hg19UCSC Ensembl
Innerchr5:81245981..81550493hg18UCSC Ensembl
Innerchr5:81245981..81550493hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38304513
hg19304513
hg18304513
hg17304513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759353
Supporting Variantsessv23451, essv21869, essv23878, essv21771
SamplesNA12814, NA10854, NA11839, NA12239
Known GenesATG10
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)esv2758001
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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