A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161246



Internal ID7905960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21865756..22188768hg38UCSC Ensembl
Innerchr22:22220046..22543157hg19UCSC Ensembl
Innerchr22:20550046..20873157hg18UCSC Ensembl
Innerchr22:20544600..20867711hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38323013
hg19323112
hg18323112
hg17323112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422394
Supporting Variants
SamplesND03071
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)essv5161246
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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