A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161419



Internal ID7906133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21797959..22240837hg38UCSC Ensembl
Innerchr22:22152248..22595246hg19UCSC Ensembl
Innerchr22:20482248..20925246hg18UCSC Ensembl
Innerchr22:20476802..20919800hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38442879
hg19442999
hg18442999
hg17442999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422374
Supporting Variants
SamplesND05052
Known GenesMAPK1, PPM1F, TOP3B
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161419
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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