A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663478



Internal ID9929583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:70807647..70810637hg38UCSC Ensembl
Outerchr8:70807610..70810687hg38UCSC Ensembl
Innerchr8:71719882..71722872hg19UCSC Ensembl
Outerchr8:71719845..71722922hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg383078
hg193078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6050034, essv5969626
SamplesNA18614, NA18562
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663478
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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