A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451841



Internal ID15298786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50109808..50145859hg38UCSC Ensembl
Innerchr5:50110761..50144859hg38UCSC Ensembl
Outerchr5:50109808..50146859hg38UCSC Ensembl
chr5:49405642..49441693hg19UCSC Ensembl
Innerchr5:49406595..49440693hg19UCSC Ensembl
Outerchr5:49405642..49442693hg19UCSC Ensembl
chr5:49441352..49477450hg18UCSC Ensembl
Innerchr5:49442352..49476450hg18UCSC Ensembl
Outerchr5:49440352..49478450hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3836052
hg1936052
hg1836099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3273e59
Supporting Variantsessv8694785
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451841
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