A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16211



Internal ID9976290
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758026
Supporting Variants
SamplesNA19161
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)essv16211
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer