A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386929



Internal ID15233898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50119915..50122913hg38UCSC Ensembl
Innerchr3:50120915..50121913hg38UCSC Ensembl
Outerchr3:50118915..50123913hg38UCSC Ensembl
chr3:50157348..50160346hg19UCSC Ensembl
Innerchr3:50158348..50159346hg19UCSC Ensembl
Outerchr3:50156348..50161346hg19UCSC Ensembl
chr3:50132352..50135350hg18UCSC Ensembl
Innerchr3:50133352..50134350hg18UCSC Ensembl
Outerchr3:50131352..50136350hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694093
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386929
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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