A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663089



Internal ID9929194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108289480..108293877hg38UCSC Ensembl
chr6:108610684..108615081hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384398
hg194398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6337850, essv6518306, essv5578179, essv5577448, essv6132644, essv5512967, essv5648225, essv5489556, essv5995481, essv5576668, essv6298141, essv5449802, essv5616698
SamplesHG00737, HG01488, HG00736, NA20513, HG00106, NA20775, HG01048, HG01197, HG00353, HG00319, HG01491, HG01377, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663089
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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