A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678373



Internal ID9944478
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6328113, essv5421446, essv6482284, essv5691722, essv5875308, essv6109749, essv6469850, essv5596127, essv5558489, essv5656103, essv5489493, essv5560518, essv6136906, essv6540932
SamplesNA19703, NA18486, NA18944, NA18868, NA19372, HG01048, NA19391, NA18871, NA18853, NA19225, NA18858, NA19835, NA18487, NA19431
Known GenesFBXO16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678373
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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