A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688189



Internal ID15010171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125154846..125156144hg38UCSC Ensembl
Innerchr11:125155144..125155846hg38UCSC Ensembl
Outerchr11:125153846..125157144hg38UCSC Ensembl
chr11:125024742..125026040hg19UCSC Ensembl
Innerchr11:125025040..125025742hg19UCSC Ensembl
Outerchr11:125023742..125027040hg19UCSC Ensembl
chr11:124529952..124531250hg18UCSC Ensembl
Innerchr11:124530952..124530250hg18UCSC Ensembl
Outerchr11:124528952..124532250hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3367123
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688189
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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