A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563988



Internal ID6688371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23931614..23969741hg38UCSC Ensembl
Outerchr22:24273801..24311930hg19UCSC Ensembl
Outerchr22:22603801..22641930hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3838128
hg1938130
hg1838130
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999560
Supporting Variants
SamplesHuRef
Known GenesDDTL, GSTT2, GSTT2B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563988
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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