A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309493



Internal ID14809757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45884944..45884945hg38UCSC Ensembl
Innerchr6:45884879..45885010hg38UCSC Ensembl
Outerchr6:45884878..45885011hg38UCSC Ensembl
chr6:45852681..45852682hg19UCSC Ensembl
Innerchr6:45852616..45852747hg19UCSC Ensembl
Outerchr6:45852615..45852748hg19UCSC Ensembl
chr6:45960659..45960660hg18UCSC Ensembl
Innerchr6:45960725..45960594hg18UCSC Ensembl
Outerchr6:45960593..45960726hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838525, essv7838238, essv7837559, essv7837138, essv7838141
SamplesNA12891, NA19238, NA19239, NA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309493
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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