A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688254



Internal ID15010287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2433546..2434844hg38UCSC Ensembl
Innerchr11:2433844..2434546hg38UCSC Ensembl
Outerchr11:2432546..2435844hg38UCSC Ensembl
chr11:2454776..2456074hg19UCSC Ensembl
Innerchr11:2455074..2455776hg19UCSC Ensembl
Outerchr11:2453776..2457074hg19UCSC Ensembl
chr11:2411352..2412650hg18UCSC Ensembl
Innerchr11:2412352..2411650hg18UCSC Ensembl
Outerchr11:2410352..2413650hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359791
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688254
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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