A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8926016



Internal ID14608923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109578312..109578345hg38UCSC Ensembl
Innerchr5:109578304..109578353hg38UCSC Ensembl
Outerchr5:109578271..109578386hg38UCSC Ensembl
chr5:108914013..108914046hg19UCSC Ensembl
Innerchr5:108914005..108914054hg19UCSC Ensembl
Outerchr5:108913972..108914087hg19UCSC Ensembl
chr5:108941912..108941945hg18UCSC Ensembl
Innerchr5:108941953..108941904hg18UCSC Ensembl
Outerchr5:108941871..108941986hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg385151
hg195151
hg185151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439991
Supporting Variants
SamplesNA18956
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8926016
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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