A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691503



Internal ID14759751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30434505..30435703hg38UCSC Ensembl
Innerchr19:30434703..30435505hg38UCSC Ensembl
Outerchr19:30433505..30436703hg38UCSC Ensembl
chr19:30925412..30926610hg19UCSC Ensembl
Innerchr19:30925610..30926412hg19UCSC Ensembl
Outerchr19:30924412..30927610hg19UCSC Ensembl
chr19:35617252..35618450hg18UCSC Ensembl
Innerchr19:35618252..35617450hg18UCSC Ensembl
Outerchr19:35616252..35619450hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439901
Supporting Variants
SamplesNA19240
Known GenesZNF536
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691503
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