A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3358765



Internal ID14859027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:16064439..16064453hg38UCSC Ensembl
Innerchr11:16064435..16064455hg38UCSC Ensembl
Outerchr11:16064421..16064469hg38UCSC Ensembl
chr11:16085985..16085999hg19UCSC Ensembl
Innerchr11:16085981..16086001hg19UCSC Ensembl
Outerchr11:16085967..16086015hg19UCSC Ensembl
chr11:16042561..16042575hg18UCSC Ensembl
Innerchr11:16042577..16042557hg18UCSC Ensembl
Outerchr11:16042543..16042591hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38235
hg19235
hg18235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8951590, essv8951595, essv8951592, essv8951593, essv8951596, essv8951594
SamplesNA18861, NA18517, NA19147, NA18502, NA18858, NA19099
Known GenesSOX6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3358765
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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