A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7749326



Internal ID14356634
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 StatusS
Merged Variantsesv3305892
Supporting Variants
SamplesNA18856
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7749326
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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