A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694290



Internal ID14696453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184500604..184502702hg38UCSC Ensembl
Innerchr4:184501604..184501702hg38UCSC Ensembl
Outerchr4:184499604..184503702hg38UCSC Ensembl
chr4:185421758..185423856hg19UCSC Ensembl
Innerchr4:185422758..185422856hg19UCSC Ensembl
Outerchr4:185420758..185424856hg19UCSC Ensembl
chr4:185658752..185660850hg18UCSC Ensembl
Innerchr4:185659752..185659850hg18UCSC Ensembl
Outerchr4:185657752..185661850hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3377110
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694290
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