A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759368



Internal ID9981513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:107156025..107216110hg38UCSC Ensembl
Innerchr5:106491726..106551811hg19UCSC Ensembl
Innerchr5:106519625..106579710hg18UCSC Ensembl
Innerchr5:106519625..106579710hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3860086
hg1960086
hg1860086
hg1760086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758011
SamplesNA12760, NA18624
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)esv2759368
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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