A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759391



Internal ID9981536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:165795695..165974944hg38UCSC Ensembl
Innerchr5:165222700..165401949hg19UCSC Ensembl
Innerchr5:165155278..165334527hg18UCSC Ensembl
Innerchr5:165155278..165334527hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38179250
hg19179250
hg18179250
hg17179250
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758026
SamplesNA19161, NA18976, NA19000, NA19129
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)esv2759391
Frequency
Sample Size270
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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