A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690457



Internal ID15058220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:86179945..86181743hg38UCSC Ensembl
Innerchr16:86180743..86180945hg38UCSC Ensembl
Outerchr16:86178945..86182743hg38UCSC Ensembl
chr16:86213551..86215349hg19UCSC Ensembl
Innerchr16:86214349..86214551hg19UCSC Ensembl
Outerchr16:86212551..86216349hg19UCSC Ensembl
chr16:84771052..84772850hg18UCSC Ensembl
Innerchr16:84772052..84771850hg18UCSC Ensembl
Outerchr16:84770052..84773850hg18UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329785
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690457
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