A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308313



Internal ID14808575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:16064362..16064363hg38UCSC Ensembl
Innerchr11:16064216..16064509hg38UCSC Ensembl
Outerchr11:16064215..16064510hg38UCSC Ensembl
chr11:16085908..16085909hg19UCSC Ensembl
Innerchr11:16085762..16086055hg19UCSC Ensembl
Outerchr11:16085761..16086056hg19UCSC Ensembl
chr11:16042484..16042485hg18UCSC Ensembl
Innerchr11:16042631..16042338hg18UCSC Ensembl
Outerchr11:16042337..16042632hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837661, essv7839010
SamplesNA19238, NA19240
Known GenesSOX6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308313
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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