A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010693



Internal ID6722783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23853634..23858061hg38UCSC Ensembl
Outerchr22:24195821..24200248hg19UCSC Ensembl
Outerchr22:22525821..22530248hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg384428
hg194428
hg184428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564841
SamplesHuRef
Known GenesSLC2A11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010693
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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