A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668251



Internal ID9587670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42717103..42729110hg38UCSC Ensembl
Outerchr8:42717066..42729160hg38UCSC Ensembl
Innerchr8:42572246..42584253hg19UCSC Ensembl
Outerchr8:42572209..42584303hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3812095
hg1912095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5723563
SamplesHG00252
Known GenesCHRNB3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668251
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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