A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7762163



Internal ID13747615
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 StatusS
Merged Variantsesv3304199
Supporting Variants
SamplesNA18489
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7762163
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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