A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999560



Internal ID6735484
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563988
SamplesHuRef
Known GenesDDTL, GSTT2, GSTT2B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999560
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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