A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310079



Internal ID14810344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154151282..154151283hg38UCSC Ensembl
Innerchr1:154151255..154151310hg38UCSC Ensembl
Outerchr1:154151254..154151311hg38UCSC Ensembl
chr1:154123758..154123759hg19UCSC Ensembl
Innerchr1:154123731..154123786hg19UCSC Ensembl
Outerchr1:154123730..154123787hg19UCSC Ensembl
chr1:152390382..152390383hg18UCSC Ensembl
Innerchr1:152390410..152390355hg18UCSC Ensembl
Outerchr1:152390354..152390411hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837120, essv7837306
SamplesNA19239, NA19240
Known GenesNUP210L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310079
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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