A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350079



Internal ID14850344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46204363..46204375hg38UCSC Ensembl
Innerchr18:46204359..46204377hg38UCSC Ensembl
Outerchr18:46204349..46204389hg38UCSC Ensembl
chr18:43784329..43784341hg19UCSC Ensembl
Innerchr18:43784325..43784343hg19UCSC Ensembl
Outerchr18:43784315..43784355hg19UCSC Ensembl
chr18:42038327..42038339hg18UCSC Ensembl
Innerchr18:42038341..42038323hg18UCSC Ensembl
Outerchr18:42038313..42038353hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673568
SamplesNA19239
Known GenesC18orf25
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350079
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