A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674440



Internal ID9940545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:98041878..98042611hg38UCSC Ensembl
Outerchr8:98041841..98042661hg38UCSC Ensembl
Innerchr8:99054106..99054839hg19UCSC Ensembl
Outerchr8:99054069..99054889hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38821
hg19821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5774650
SamplesNA12830
Known GenesRPL30, SNORA72
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674440
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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