A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3405563



Internal ID15252525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:24543194..24543222hg38UCSC Ensembl
Innerchr11:24543206..24543208hg38UCSC Ensembl
Outerchr11:24543178..24543238hg38UCSC Ensembl
chr11:24564740..24564768hg19UCSC Ensembl
Innerchr11:24564752..24564754hg19UCSC Ensembl
Outerchr11:24564724..24564784hg19UCSC Ensembl
chr11:24521316..24521344hg18UCSC Ensembl
Innerchr11:24521330..24521328hg18UCSC Ensembl
Outerchr11:24521300..24521360hg18UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg38116
hg19116
hg18116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8951905, essv8951906, essv8951907
SamplesNA18486, NA19099, NA18522
Known GenesLUZP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3405563
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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