A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563533



Internal ID7036293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17144420..17147697hg38UCSC Ensembl
Outerchr22:17625310..17628587hg19UCSC Ensembl
Outerchr22:16005310..16008587hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg383278
hg193278
hg183278
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006805
Supporting Variants
SamplesHuRef
Known GenesCECR5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563533
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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