A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674927



Internal ID9941032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54898242..54903527hg38UCSC Ensembl
chr1:55363915..55369200hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385286
hg195286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5701884, essv5873519, essv5778487, essv5707334, essv6077479
SamplesNA18498, NA19901, NA19236, NA18853, NA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674927
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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