A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304864



Internal ID14805126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146719789..146719790hg38UCSC Ensembl
Innerchr5:146719759..146719820hg38UCSC Ensembl
Outerchr5:146719758..146719821hg38UCSC Ensembl
chr5:146099352..146099353hg19UCSC Ensembl
Innerchr5:146099322..146099383hg19UCSC Ensembl
Outerchr5:146099321..146099384hg19UCSC Ensembl
chr5:146079545..146079546hg18UCSC Ensembl
Innerchr5:146079576..146079515hg18UCSC Ensembl
Outerchr5:146079514..146079577hg18UCSC Ensembl
Cytoband5q32
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 Variantsessv7755559, essv7741378, essv7762207, essv7752689, essv7746951, essv7748387, essv7749661, essv7744161, essv7746751, essv7741092, essv7758581, essv7761383, essv7753746, essv7741666, essv7758162, essv7753609
SamplesNA18871, NA19114, NA19093, NA12828, NA18517, NA18489, NA19108, NA18505, NA12006, NA18522, NA18510, NA18502, NA19138, NA18909, NA19099, NA18499
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304864
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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