A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617009



Internal ID6657205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42353355..42355285hg38UCSC Ensembl
Innerchr8:42353505..42355135hg38UCSC Ensembl
Outerchr8:42353205..42355435hg38UCSC Ensembl
chr8:42210873..42212803hg19UCSC Ensembl
Innerchr8:42211023..42212653hg19UCSC Ensembl
Outerchr8:42210723..42212953hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381931
hg191931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13185799, essv13185805, essv13185804, essv13185803, essv13185800, essv13185801, essv13185802
SamplesNA20512, HG02312, HG01668, HG01360, HG01705, NA20534, HG01608
Known GenesPOLB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617009
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer