A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675809



Internal ID15015249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131996996..131997005hg38UCSC Ensembl
Innerchr5:131996989..131997012hg38UCSC Ensembl
Outerchr5:131996980..131997021hg38UCSC Ensembl
chr5:131332689..131332698hg19UCSC Ensembl
Innerchr5:131332682..131332705hg19UCSC Ensembl
Outerchr5:131332673..131332714hg19UCSC Ensembl
chr5:131360588..131360597hg18UCSC Ensembl
Innerchr5:131360604..131360581hg18UCSC Ensembl
Outerchr5:131360572..131360613hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3415163
Supporting Variants
SamplesNA19238
Known GenesACSL6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675809
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