A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757006



Internal ID18731252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46168295..46170677hg38UCSC Ensembl
Outerchr22:46168108..46171055hg38UCSC Ensembl
Innerchr22:46564194..46566576hg19UCSC Ensembl
Outerchr22:46564007..46566954hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558259
Supporting Variants
Samples
Known GenesPPARA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757006
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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