A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307050



Internal ID14807312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:16064438..16064439hg38UCSC Ensembl
Innerchr11:16064410..16064467hg38UCSC Ensembl
Outerchr11:16064409..16064468hg38UCSC Ensembl
chr11:16085984..16085985hg19UCSC Ensembl
Innerchr11:16085956..16086013hg19UCSC Ensembl
Outerchr11:16085955..16086014hg19UCSC Ensembl
chr11:16042560..16042561hg18UCSC Ensembl
Innerchr11:16042589..16042532hg18UCSC Ensembl
Outerchr11:16042531..16042590hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38245
hg19245
hg18245
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7753599, essv7746501, essv7741604, essv7745516, essv7761550, essv7754542, essv7740959
SamplesNA18502, NA18861, NA19238, NA19099, NA18858, NA19147, NA18517
Known GenesSOX6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307050
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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