A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161345



Internal ID7906059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21856644..22346590hg38UCSC Ensembl
Innerchr22:22210933..22700941hg19UCSC Ensembl
Innerchr22:20540933..21030941hg18UCSC Ensembl
Innerchr22:20535487..21025495hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38489947
hg19490009
hg18490009
hg17490009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422223
Supporting Variants
SamplesND03527
Known GenesBMS1P20, MAPK1, PPM1F, TOP3B, VPREB1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161345
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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