A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688515



Internal ID13694712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71563058..71564356hg38UCSC Ensembl
Innerchr11:71563356..71564058hg38UCSC Ensembl
Outerchr11:71562058..71565356hg38UCSC Ensembl
chr11:71274104..71275402hg19UCSC Ensembl
Innerchr11:71274402..71275104hg19UCSC Ensembl
Outerchr11:71273104..71276402hg19UCSC Ensembl
chr11:70951752..70953050hg18UCSC Ensembl
Innerchr11:70952752..70952050hg18UCSC Ensembl
Outerchr11:70950752..70954050hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3421476
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688515
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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