A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678666



Internal ID9944771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55075058..55092540hg38UCSC Ensembl
Outerchr8:55074901..55092693hg38UCSC Ensembl
Innerchr8:55987618..56005100hg19UCSC Ensembl
Outerchr8:55987461..56005253hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3817793
hg1917793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6290155
SamplesNA20586
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678666
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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