A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7737125



Internal ID13833043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:124443054..124443055hg38UCSC Ensembl
Outerchr11:124442923..124443186hg38UCSC Ensembl
Innerchr11:124312950..124312951hg19UCSC Ensembl
Outerchr11:124312819..124313082hg19UCSC Ensembl
Innerchr11:123818161..123818160hg18UCSC Ensembl
Outerchr11:123818029..123818292hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38264
hg19264
hg18264
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302926
Supporting Variants
SamplesNA18508
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7737125
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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