A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758780



Internal ID9634239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8969644..9299053hg38UCSC Ensembl
Innerchr20:8950291..9279700hg19UCSC Ensembl
Innerchr20:8898291..9227700hg18UCSC Ensembl
Innerchr20:8898291..9227700hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38329410
hg19329410
hg18329410
hg17329410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758512
SamplesNA19144
Known GenesPLCB4
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)esv2758780
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