A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740848



Internal ID15084286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47779628..47779652hg38UCSC Ensembl
Innerchr16:47779627..47779653hg38UCSC Ensembl
Outerchr16:47779578..47779702hg38UCSC Ensembl
chr16:47813539..47813563hg19UCSC Ensembl
Innerchr16:47813538..47813564hg19UCSC Ensembl
Outerchr16:47813489..47813613hg19UCSC Ensembl
chr16:46371040..46371064hg18UCSC Ensembl
Innerchr16:46371065..46371039hg18UCSC Ensembl
Outerchr16:46370990..46371114hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381049
hg191049
hg181049
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3345019
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740848
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