A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003985



Internal ID6716111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36227668..36241537hg38UCSC Ensembl
Outerchr22:36623714..36637583hg19UCSC Ensembl
Outerchr22:34953660..34967529hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3813870
hg1913870
hg1813870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565421
SamplesHuRef
Known GenesAPOL2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003985
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