A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303581



Internal ID14803843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11152328..11152329hg38UCSC Ensembl
Innerchr1:11152192..11152465hg38UCSC Ensembl
Outerchr1:11152191..11152466hg38UCSC Ensembl
chr1:11212385..11212386hg19UCSC Ensembl
Innerchr1:11212249..11212522hg19UCSC Ensembl
Outerchr1:11212248..11212523hg19UCSC Ensembl
chr1:11134972..11134973hg18UCSC Ensembl
Innerchr1:11135109..11134836hg18UCSC Ensembl
Outerchr1:11134835..11135110hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7743300, essv7741490, essv7754450
SamplesNA19005, NA18916, NA18871
Known GenesMTOR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303581
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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