A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5560518



Internal ID9752795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28453201..28454996hg38UCSC Ensembl
chr8:28310718..28312513hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381796
hg191796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678373
Supporting Variants
SamplesNA19703
Known GenesFBXO16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5560518
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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