A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7741249



Internal ID14995489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:166620800..166620801hg38UCSC Ensembl
Innerchr4:166620766..166620835hg38UCSC Ensembl
Outerchr4:166620765..166620836hg38UCSC Ensembl
chr4:167541951..167541952hg19UCSC Ensembl
Innerchr4:167541917..167541986hg19UCSC Ensembl
Outerchr4:167541916..167541987hg19UCSC Ensembl
chr4:167761401..167761402hg18UCSC Ensembl
Innerchr4:167761436..167761367hg18UCSC Ensembl
Outerchr4:167761366..167761437hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307268
Supporting Variants
SamplesNA19210
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7741249
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