A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688505



Internal ID15044277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70025198..70026496hg38UCSC Ensembl
Innerchr11:70025496..70026198hg38UCSC Ensembl
Outerchr11:70024198..70027496hg38UCSC Ensembl
chr11:69871304..69872602hg19UCSC Ensembl
Innerchr11:69871602..69872304hg19UCSC Ensembl
Outerchr11:69870304..69873602hg19UCSC Ensembl
chr11:69548952..69550250hg18UCSC Ensembl
Innerchr11:69549952..69549250hg18UCSC Ensembl
Outerchr11:69547952..69551250hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366102
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688505
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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