A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757985



Internal ID9980062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13165030..13403463hg38UCSC Ensembl
Innerchr5:13165142..13403575hg19UCSC Ensembl
Innerchr5:13218142..13456575hg18UCSC Ensembl
Innerchr5:13218142..13456575hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38238434
hg19238434
hg18238434
hg17238434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759325
Supporting Variantsessv23680, essv18621
SamplesNA10863, NA12234
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)esv2757985
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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