A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426842



Internal ID15273799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85642571..85664222hg38UCSC Ensembl
Innerchr8:85643571..85663269hg38UCSC Ensembl
Outerchr8:85641571..85664222hg38UCSC Ensembl
chr8:86554800..86576451hg19UCSC Ensembl
Innerchr8:86555800..86575498hg19UCSC Ensembl
Outerchr8:86553800..86576451hg19UCSC Ensembl
chr8:86742052..86763750hg18UCSC Ensembl
Innerchr8:86743052..86762750hg18UCSC Ensembl
Outerchr8:86741052..86764750hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3821652
hg1921652
hg1821699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4190e59
Supporting Variantsessv8696488
SamplesNA12892
Known GenesREXO1L1, REXO1L2P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426842
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