A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673942



Internal ID9940047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21644921..21646084hg38UCSC Ensembl
Outerchr22:21644884..21646134hg38UCSC Ensembl
Innerchr22:21999210..22000373hg19UCSC Ensembl
Outerchr22:21999173..22000423hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5844385
SamplesNA19703
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673942
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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