A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380840



Internal ID15227812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4492155..4493453hg38UCSC Ensembl
Innerchr19:4492453..4493155hg38UCSC Ensembl
Outerchr19:4491155..4494453hg38UCSC Ensembl
chr19:4492152..4493450hg19UCSC Ensembl
Innerchr19:4492450..4493152hg19UCSC Ensembl
Outerchr19:4491152..4494450hg19UCSC Ensembl
chr19:4443152..4444450hg18UCSC Ensembl
Innerchr19:4444152..4443450hg18UCSC Ensembl
Outerchr19:4442152..4445450hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1979e59
Supporting Variantsessv8691547
SamplesNA12878
Known GenesHDGFRP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380840
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