A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676031



Internal ID9942136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64331889..64344628hg38UCSC Ensembl
chr8:65244446..65257185hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3812740
hg1912740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6534114, essv6105021, essv6401262, essv6087411, essv6085906, essv5875683, essv5987246, essv6356279, essv5659939, essv5877438, essv6122270, essv6474283, essv6407588, essv5855377, essv6172105, essv6584225
SamplesNA19350, NA19446, NA19396, NA19381, NA19235, NA19317, NA19921, NA19908, NA19982, NA18856, NA19375, NA19440, NA19108, NA19334, HG01108, NA19376
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676031
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer