A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369377



Internal ID15216353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40326572..40329171hg38UCSC Ensembl
Innerchr4:40327571..40328169hg38UCSC Ensembl
Outerchr4:40325572..40330176hg38UCSC Ensembl
chr4:40328589..40331188hg19UCSC Ensembl
Innerchr4:40329588..40330186hg19UCSC Ensembl
Outerchr4:40327589..40332193hg19UCSC Ensembl
chr4:40023352..40025950hg18UCSC Ensembl
Innerchr4:40024352..40024950hg18UCSC Ensembl
Outerchr4:40022352..40026950hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382600
hg192600
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694416
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369377
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