A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303707



Internal ID15150655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116548650..116548651hg38UCSC Ensembl
Innerchr1:116548609..116548692hg38UCSC Ensembl
Outerchr1:116548608..116548693hg38UCSC Ensembl
chr1:117091272..117091273hg19UCSC Ensembl
Innerchr1:117091231..117091314hg19UCSC Ensembl
Outerchr1:117091230..117091315hg19UCSC Ensembl
chr1:116892795..116892796hg18UCSC Ensembl
Innerchr1:116892837..116892754hg18UCSC Ensembl
Outerchr1:116892753..116892838hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7762978, essv7742601
SamplesNA12249, NA07051
Known GenesCD58
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303707
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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