A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302609



Internal ID15149557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81765099..81765606hg38UCSC Ensembl
Innerchr16:81765199..81765506hg38UCSC Ensembl
Outerchr16:81764999..81765706hg38UCSC Ensembl
chr16:81798704..81799211hg19UCSC Ensembl
Innerchr16:81798804..81799111hg19UCSC Ensembl
Outerchr16:81798604..81799311hg19UCSC Ensembl
chr16:80356205..80356712hg18UCSC Ensembl
Innerchr16:80356305..80356612hg18UCSC Ensembl
Outerchr16:80356105..80356812hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38508
hg19508
hg18508
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1647e59
Supporting Variantsessv7731132, essv7731025
SamplesNA12891, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302609
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