A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7751971



Internal ID13481792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116320266..116320267hg38UCSC Ensembl
Innerchr11:116320194..116320339hg38UCSC Ensembl
Outerchr11:116320193..116320340hg38UCSC Ensembl
chr11:116190983..116190984hg19UCSC Ensembl
Innerchr11:116190911..116191056hg19UCSC Ensembl
Outerchr11:116190910..116191057hg19UCSC Ensembl
chr11:115696193..115696194hg18UCSC Ensembl
Innerchr11:115696266..115696121hg18UCSC Ensembl
Outerchr11:115696120..115696267hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305051
Supporting Variants
SamplesNA12716
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7751971
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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