A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667418



Internal ID9933523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:61819765..61823246hg38UCSC Ensembl
Outerchr8:61819728..61823296hg38UCSC Ensembl
Innerchr8:62732324..62735805hg19UCSC Ensembl
Outerchr8:62732287..62735855hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg383569
hg193569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5476116
SamplesHG00692
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667418
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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