A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991516



Internal ID7061827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38729936..38740885hg38UCSC Ensembl
Outerchr22:39125941..39136890hg19UCSC Ensembl
Outerchr22:37455887..37466836hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3810950
hg1910950
hg1810950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564262
SamplesHuRef
Known GenesGTPBP1, SUN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991516
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