A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309973



Internal ID15156924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12884832..12884833hg38UCSC Ensembl
Innerchr18:12884808..12884857hg38UCSC Ensembl
Outerchr18:12884807..12884858hg38UCSC Ensembl
chr18:12884831..12884832hg19UCSC Ensembl
Innerchr18:12884807..12884856hg19UCSC Ensembl
Outerchr18:12884806..12884857hg19UCSC Ensembl
chr18:12874831..12874832hg18UCSC Ensembl
Innerchr18:12874856..12874807hg18UCSC Ensembl
Outerchr18:12874806..12874857hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38162
hg19162
hg18162
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837841, essv7838395
SamplesNA12891, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309973
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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