A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673955



Internal ID9940060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47989088..47998722hg38UCSC Ensembl
Outerchr8:47988931..47998875hg38UCSC Ensembl
Innerchr8:48901648..48911282hg19UCSC Ensembl
Outerchr8:48901491..48911435hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg389945
hg199945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6364940
SamplesNA19446
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673955
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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