A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422338



Internal ID7906435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21856644..22062991hg38UCSC Ensembl
Innerchr22:22210933..22417406hg19UCSC Ensembl
Innerchr22:20540933..20747406hg18UCSC Ensembl
Innerchr22:20535487..20741960hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38206348
hg19206474
hg18206474
hg17206474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161529
SamplesND01567
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)esv2422338
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