A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359949



Internal ID14860211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149511230..149511244hg38UCSC Ensembl
Innerchr6:149511205..149511269hg38UCSC Ensembl
Outerchr6:149511191..149511283hg38UCSC Ensembl
chr6:149832366..149832380hg19UCSC Ensembl
Innerchr6:149832341..149832405hg19UCSC Ensembl
Outerchr6:149832327..149832419hg19UCSC Ensembl
chr6:149874059..149874073hg18UCSC Ensembl
Innerchr6:149874098..149874034hg18UCSC Ensembl
Outerchr6:149874020..149874112hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864666
SamplesNA12005
Known GenesPPIL4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359949
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