A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661884



Internal ID9581303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164757731..164791032hg38UCSC Ensembl
Outerchr2:164757694..164791082hg38UCSC Ensembl
Innerchr2:165614241..165647542hg19UCSC Ensembl
Outerchr2:165614204..165647592hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3833389
hg1933389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6126737
SamplesNA19834
Known GenesCOBLL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661884
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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