A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303552



Internal ID15150500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112213887..112213888hg38UCSC Ensembl
Innerchr11:112213865..112213910hg38UCSC Ensembl
Outerchr11:112213864..112213911hg38UCSC Ensembl
chr11:112084610..112084611hg19UCSC Ensembl
Innerchr11:112084588..112084633hg19UCSC Ensembl
Outerchr11:112084587..112084634hg19UCSC Ensembl
chr11:111589820..111589821hg18UCSC Ensembl
Innerchr11:111589843..111589798hg18UCSC Ensembl
Outerchr11:111589797..111589844hg18UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38601
hg19601
hg18601
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7768547, essv7766172, essv7768885, essv7763969
SamplesNA12287, NA12872, NA12043, NA12873
Known GenesBCO2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303552
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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