A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691450



Internal ID14759605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:322452..324750hg38UCSC Ensembl
Innerchr19:323452..323750hg38UCSC Ensembl
Outerchr19:321452..325750hg38UCSC Ensembl
chr19:322452..324750hg19UCSC Ensembl
Innerchr19:323452..323750hg19UCSC Ensembl
Outerchr19:321452..325750hg19UCSC Ensembl
chr19:273452..275750hg18UCSC Ensembl
Innerchr19:274452..274750hg18UCSC Ensembl
Outerchr19:272452..276750hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3366277
Supporting Variants
SamplesNA19240
Known GenesMIER2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691450
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