A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2552e59



Internal ID22763772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16367190..16386788hg38UCSC Ensembl
chr22:16847852..16867450hg19UCSC Ensembl
chr22:15227852..15247450hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3819599
hg1919599
hg1819599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3337212, esv3341763, esv3344710, esv3412576
SamplesNA12891, NA19238, NA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2552e59
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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