A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676019



Internal ID9942124
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 Flag
Merged StatusM
Merged Variantsdgv815e199
Supporting Variantsessv5528302, essv5502652, essv6357930, essv6528540, essv6319275
SamplesHG01521, HG01522, HG01519, HG01515, HG01516
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676019
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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