A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11102



Internal ID9608229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10917246..11078430hg38UCSC Ensembl
Innerchr12:11069845..11231029hg19UCSC Ensembl
Innerchr12:10961112..11122296hg18UCSC Ensembl
Innerchr12:10961112..11122296hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38161185
hg19161185
hg18161185
hg17161185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758294
Supporting Variants
SamplesNA19211
Known GenesPRH1-PRR4, PRH2, TAS2R14, TAS2R19, TAS2R20, TAS2R31, TAS2R46, TAS2R50
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)essv11102
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