A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758540



Internal ID9633999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:26502533..26633932hg38UCSC Ensembl
Innerchr22:26898499..27029896hg19UCSC Ensembl
Innerchr22:25228499..25359896hg18UCSC Ensembl
Innerchr22:25223053..25354450hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38131400
hg19131398
hg18131398
hg17131398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758831
Supporting Variantsessv17844
SamplesNA10831
Known GenesCRYBA4, CRYBB1, MIR548J, TFIP11, TPST2
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)esv2758540
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