A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306020



Internal ID15152968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:24543203..24543204hg38UCSC Ensembl
Innerchr11:24543167..24543240hg38UCSC Ensembl
Outerchr11:24543166..24543241hg38UCSC Ensembl
chr11:24564749..24564750hg19UCSC Ensembl
Innerchr11:24564713..24564786hg19UCSC Ensembl
Outerchr11:24564712..24564787hg19UCSC Ensembl
chr11:24521325..24521326hg18UCSC Ensembl
Innerchr11:24521362..24521289hg18UCSC Ensembl
Outerchr11:24521288..24521363hg18UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg38123
hg19123
hg18123
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758312, essv7744324, essv7753551
SamplesNA18486, NA19099, NA18522
Known GenesLUZP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306020
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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