A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305892



Internal ID15152840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:123692209..123692210hg38UCSC Ensembl
Innerchr11:123692180..123692239hg38UCSC Ensembl
Outerchr11:123692179..123692240hg38UCSC Ensembl
chr11:123562917..123562918hg19UCSC Ensembl
Innerchr11:123562888..123562947hg19UCSC Ensembl
Outerchr11:123562887..123562948hg19UCSC Ensembl
chr11:123068127..123068128hg18UCSC Ensembl
Innerchr11:123068157..123068098hg18UCSC Ensembl
Outerchr11:123068097..123068158hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758749, essv7754936, essv7742524, essv7744260, essv7756123, essv7761373, essv7749326
SamplesNA18870, NA18510, NA18520, NA18499, NA18856, NA18523, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305892
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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