A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688532



Internal ID15012559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94360338..94361636hg38UCSC Ensembl
Innerchr11:94360636..94361338hg38UCSC Ensembl
Outerchr11:94359338..94362636hg38UCSC Ensembl
chr11:94093504..94094802hg19UCSC Ensembl
Innerchr11:94093802..94094504hg19UCSC Ensembl
Outerchr11:94092504..94095802hg19UCSC Ensembl
chr11:93733152..93734450hg18UCSC Ensembl
Innerchr11:93734152..93733450hg18UCSC Ensembl
Outerchr11:93732152..93735450hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3429474
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688532
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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