A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673312



Internal ID15068378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49379445..49379461hg38UCSC Ensembl
Innerchr16:49379447..49379457hg38UCSC Ensembl
Outerchr16:49379431..49379475hg38UCSC Ensembl
chr16:49413356..49413372hg19UCSC Ensembl
Innerchr16:49413358..49413368hg19UCSC Ensembl
Outerchr16:49413342..49413386hg19UCSC Ensembl
chr16:47970857..47970873hg18UCSC Ensembl
Innerchr16:47970869..47970859hg18UCSC Ensembl
Outerchr16:47970843..47970887hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3430901
Supporting Variants
SamplesNA19239
Known GenesC16orf78
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673312
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