A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661905



Internal ID9581324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19441532..19444485hg38UCSC Ensembl
chr8:19299043..19301996hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382954
hg192954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5976325, essv5711254, essv5657367
SamplesNA19334, NA19313, NA19374
Known GenesCSGALNACT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661905
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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