A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384500



Internal ID14884781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:24183957..24185255hg38UCSC Ensembl
Innerchr3:24184255..24184957hg38UCSC Ensembl
Outerchr3:24182957..24186255hg38UCSC Ensembl
chr3:24225448..24226746hg19UCSC Ensembl
Innerchr3:24225746..24226448hg19UCSC Ensembl
Outerchr3:24224448..24227746hg19UCSC Ensembl
chr3:24200452..24201750hg18UCSC Ensembl
Innerchr3:24201452..24200750hg18UCSC Ensembl
Outerchr3:24199452..24202750hg18UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694062
SamplesNA19239
Known GenesTHRB
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384500
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