A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350647



Internal ID14850911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10863702..10863736hg38UCSC Ensembl
Innerchr18:10863711..10863725hg38UCSC Ensembl
Outerchr18:10863677..10863761hg38UCSC Ensembl
chr18:10863700..10863734hg19UCSC Ensembl
Innerchr18:10863709..10863723hg19UCSC Ensembl
Outerchr18:10863675..10863759hg19UCSC Ensembl
chr18:10853700..10853734hg18UCSC Ensembl
Innerchr18:10853723..10853709hg18UCSC Ensembl
Outerchr18:10853675..10853759hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38163
hg19163
hg18163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8972954, essv8972955
SamplesNA19129, NA19099
Known GenesPIEZO2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350647
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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