A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865513



Internal ID14339668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:104890708..104890708hg38UCSC Ensembl
Innerchr11:104890706..104890710hg38UCSC Ensembl
Outerchr11:104890706..104890710hg38UCSC Ensembl
chr11:104761435..104761435hg19UCSC Ensembl
Innerchr11:104761433..104761437hg19UCSC Ensembl
Outerchr11:104761433..104761437hg19UCSC Ensembl
chr11:104266645..104266645hg18UCSC Ensembl
Innerchr11:104266647..104266643hg18UCSC Ensembl
Outerchr11:104266643..104266647hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3429799
Supporting Variants
SamplesNA18853
Known GenesCASP12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865513
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