A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302980



Internal ID15149928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69743499..69743717hg38UCSC Ensembl
Innerchr11:69743599..69743617hg38UCSC Ensembl
Outerchr11:69743399..69743817hg38UCSC Ensembl
chr11:69558267..69558485hg19UCSC Ensembl
Innerchr11:69558367..69558385hg19UCSC Ensembl
Outerchr11:69558167..69558585hg19UCSC Ensembl
chr11:69267448..69267666hg18UCSC Ensembl
Innerchr11:69267548..69267566hg18UCSC Ensembl
Outerchr11:69267348..69267766hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7732552, essv7732347, essv7737621, essv7735948, essv7733938, essv7738094, essv7739119, essv7735504, essv7735865
SamplesNA18861, NA19138, NA19172, NA19210, NA19099, NA18909, NA19108, NA18505, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302980
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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