A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837902



Internal ID13720598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:44241051..44241052hg38UCSC Ensembl
Innerchr18:44241021..44241082hg38UCSC Ensembl
Outerchr18:44241020..44241083hg38UCSC Ensembl
chr18:41821016..41821017hg19UCSC Ensembl
Innerchr18:41820986..41821047hg19UCSC Ensembl
Outerchr18:41820985..41821048hg19UCSC Ensembl
chr18:40075014..40075015hg18UCSC Ensembl
Innerchr18:40075045..40074984hg18UCSC Ensembl
Outerchr18:40074983..40075046hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38250
hg19250
hg18250
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308324
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837902
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