A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808546



Internal ID13642977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118423086..118423329hg38UCSC Ensembl
Innerchr11:118423085..118423330hg38UCSC Ensembl
Outerchr11:118422976..118423449hg38UCSC Ensembl
chr11:118293801..118294044hg19UCSC Ensembl
Innerchr11:118293800..118294045hg19UCSC Ensembl
Outerchr11:118293691..118294164hg19UCSC Ensembl
chr11:117799011..117799254hg18UCSC Ensembl
Innerchr11:117799255..117799010hg18UCSC Ensembl
Outerchr11:117798901..117799374hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3330489
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808546
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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