A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676654



Internal ID9942759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53844354..53845175hg38UCSC Ensembl
Outerchr8:53844197..53845328hg38UCSC Ensembl
Innerchr8:54756914..54757735hg19UCSC Ensembl
Outerchr8:54756757..54757888hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg381132
hg191132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5421381, essv6338307, essv5497617, essv6455475
SamplesNA19703, NA19457, NA19470, NA19398
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676654
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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