A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306181



Internal ID15153129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43793880..43793881hg38UCSC Ensembl
Innerchr18:43793828..43793933hg38UCSC Ensembl
Outerchr18:43793827..43793934hg38UCSC Ensembl
chr18:41373845..41373846hg19UCSC Ensembl
Innerchr18:41373793..41373898hg19UCSC Ensembl
Outerchr18:41373792..41373899hg19UCSC Ensembl
chr18:39627843..39627844hg18UCSC Ensembl
Innerchr18:39627896..39627791hg18UCSC Ensembl
Outerchr18:39627790..39627897hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749720, essv7741573
SamplesNA18502, NA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306181
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