A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309082



Internal ID15156031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157171545..157171546hg38UCSC Ensembl
Innerchr2:157171357..157171734hg38UCSC Ensembl
Outerchr2:157171356..157171735hg38UCSC Ensembl
chr2:158028057..158028058hg19UCSC Ensembl
Innerchr2:158027869..158028246hg19UCSC Ensembl
Outerchr2:158027868..158028247hg19UCSC Ensembl
chr2:157736303..157736304hg18UCSC Ensembl
Innerchr2:157736492..157736115hg18UCSC Ensembl
Outerchr2:157736114..157736493hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3895
hg1995
hg1895
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837923
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309082
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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