A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661547



Internal ID9580966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42353355..42355285hg38UCSC Ensembl
chr8:42210873..42212803hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381931
hg191931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5699313, essv6332643, essv6128387
SamplesHG01360, NA20512, NA20534
Known GenesPOLB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661547
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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