A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6126737



Internal ID9104140
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 Flag1
Merged StatusS
Merged Variantsesv2661884
Supporting Variants
SamplesNA19834
Known GenesCOBLL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6126737
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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