A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678683



Internal ID9944788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:109352289..109353641hg38UCSC Ensembl
Outerchr8:109352252..109353691hg38UCSC Ensembl
Innerchr8:110364518..110365870hg19UCSC Ensembl
Outerchr8:110364481..110365920hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381440
hg191440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6287106
SamplesNA18963
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678683
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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