A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674712



Internal ID9940817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50830153..50834636hg38UCSC Ensembl
chr18:48356523..48361006hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg384484
hg194484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5908951
SamplesNA19920
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674712
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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