A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5528302



Internal ID9200704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17289726..17298732hg38UCSC Ensembl
Outerchr22:17289355..17299102hg38UCSC Ensembl
Innerchr22:17770616..17779622hg19UCSC Ensembl
Outerchr22:17770245..17779992hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg389748
hg199748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676019
Supporting Variants
SamplesHG01519
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5528302
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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