A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694616



Internal ID15013473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:100337..101835hg38UCSC Ensembl
Innerchr5:100835..101337hg38UCSC Ensembl
Outerchr5:99337..102835hg38UCSC Ensembl
chr5:100452..101950hg19UCSC Ensembl
Innerchr5:100950..101452hg19UCSC Ensembl
Outerchr5:99452..102950hg19UCSC Ensembl
chr5:153452..154950hg18UCSC Ensembl
Innerchr5:154452..153950hg18UCSC Ensembl
Outerchr5:152452..155950hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3335542
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694616
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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