A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005421



Internal ID7070516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23679564..23687520hg38UCSC Ensembl
Outerchr22:24021751..24029707hg19UCSC Ensembl
Outerchr22:22351751..22359707hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg387957
hg197957
hg187957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563810
SamplesHuRef
Known GenesGUSBP11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005421
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