A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418118



Internal ID15265076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211805101..211805125hg38UCSC Ensembl
Innerchr1:211805063..211805163hg38UCSC Ensembl
Outerchr1:211805039..211805187hg38UCSC Ensembl
chr1:211978443..211978467hg19UCSC Ensembl
Innerchr1:211978405..211978505hg19UCSC Ensembl
Outerchr1:211978381..211978529hg19UCSC Ensembl
chr1:210045066..210045090hg18UCSC Ensembl
Innerchr1:210045128..210045028hg18UCSC Ensembl
Outerchr1:210045004..210045152hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863813
SamplesNA12005
Known GenesLPGAT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418118
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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