A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563810



Internal ID7034910
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005421
Supporting Variants
SamplesHuRef
Known GenesGUSBP11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563810
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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