A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3404998



Internal ID14905274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9998692..9998707hg38UCSC Ensembl
Innerchr19:9998694..9998705hg38UCSC Ensembl
Outerchr19:9998690..9998709hg38UCSC Ensembl
chr19:10109368..10109383hg19UCSC Ensembl
Innerchr19:10109370..10109381hg19UCSC Ensembl
Outerchr19:10109366..10109385hg19UCSC Ensembl
chr19:9970368..9970383hg18UCSC Ensembl
Innerchr19:9970370..9970381hg18UCSC Ensembl
Outerchr19:9970366..9970385hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866071, essv7866070
SamplesNA18871, NA12005
Known GenesCOL5A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3404998
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer