A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304199



Internal ID15151147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115511542..115511543hg38UCSC Ensembl
Innerchr5:115511511..115511574hg38UCSC Ensembl
Outerchr5:115511510..115511575hg38UCSC Ensembl
chr5:114847239..114847240hg19UCSC Ensembl
Innerchr5:114847208..114847271hg19UCSC Ensembl
Outerchr5:114847207..114847272hg19UCSC Ensembl
chr5:114875138..114875139hg18UCSC Ensembl
Innerchr5:114875170..114875107hg18UCSC Ensembl
Outerchr5:114875106..114875171hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749582, essv7761565, essv7754937, essv7749203, essv7750639, essv7760416, essv7749477, essv7744248, essv7763347, essv7744653, essv7762163, essv7759925, essv7752177, essv7755840, essv7752790, essv7751461
SamplesNA18507, NA19190, NA18510, NA18489, NA19238, NA19172, NA18516, NA18907, NA18856, NA19257, NA18523, NA06986, NA19093, NA19102, NA19116, NA18505
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304199
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer