A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673622



Internal ID9593041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17657700..17661706hg38UCSC Ensembl
Outerchr22:17657329..17662076hg38UCSC Ensembl
Innerchr22:18140466..18144472hg19UCSC Ensembl
Outerchr22:18140095..18144842hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5695064, essv5958145, essv5746625, essv5913400, essv6528162, essv6487551, essv6592066, essv5513483, essv6275110, essv5895862
SamplesHG01357, HG01359, HG01365, HG01350, HG01384, HG01360, HG01136, HG01437, HG01251, HG01498
Known GenesBCL2L13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673622
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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