A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673225



Internal ID9939330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129991923..129994928hg38UCSC Ensembl
Outerchr8:129991886..129994978hg38UCSC Ensembl
Innerchr8:131004169..131007174hg19UCSC Ensembl
Outerchr8:131004132..131007224hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383093
hg193093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5462065, essv5499485, essv5910448
SamplesHG00629, NA19070, NA18579
Known GenesFAM49B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673225
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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