A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343479



Internal ID14843747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112213879..112213898hg38UCSC Ensembl
Innerchr11:112213875..112213902hg38UCSC Ensembl
Outerchr11:112213856..112213921hg38UCSC Ensembl
chr11:112084602..112084621hg19UCSC Ensembl
Innerchr11:112084598..112084625hg19UCSC Ensembl
Outerchr11:112084579..112084644hg19UCSC Ensembl
chr11:111589812..111589831hg18UCSC Ensembl
Innerchr11:111589835..111589808hg18UCSC Ensembl
Outerchr11:111589789..111589854hg18UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9654514, essv9654503, essv9654525
SamplesNA12287, NA12872, NA12873
Known GenesBCO2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343479
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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