A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837841



Internal ID13720488
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 StatusS
Merged Variantsesv3309973
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837841
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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