A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003446



Internal ID7068552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20252439..20253189hg38UCSC Ensembl
Outerchr22:20239962..20240712hg19UCSC Ensembl
Outerchr22:18619962..18620712hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38751
hg19751
hg18751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564273
SamplesHuRef
Known GenesRTN4R
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003446
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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