A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353999



Internal ID15200980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33291397..33292995hg38UCSC Ensembl
Innerchr6:33291995..33292397hg38UCSC Ensembl
Outerchr6:33290397..33293995hg38UCSC Ensembl
chr6:33259174..33260772hg19UCSC Ensembl
Innerchr6:33259772..33260174hg19UCSC Ensembl
Outerchr6:33258174..33261772hg19UCSC Ensembl
chr6:33367152..33368750hg18UCSC Ensembl
Innerchr6:33368152..33367750hg18UCSC Ensembl
Outerchr6:33366152..33369750hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695271
SamplesNA19239
Known GenesRGL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353999
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