A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653424



Internal ID15065021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128667605..128667605hg38UCSC Ensembl
Innerchr5:128667604..128667606hg38UCSC Ensembl
Outerchr5:128667555..128667655hg38UCSC Ensembl
chr5:128003298..128003298hg19UCSC Ensembl
Innerchr5:128003297..128003299hg19UCSC Ensembl
Outerchr5:128003248..128003348hg19UCSC Ensembl
chr5:128031197..128031197hg18UCSC Ensembl
Innerchr5:128031198..128031196hg18UCSC Ensembl
Outerchr5:128031147..128031247hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381256
hg191256
hg181256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3357865
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653424
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