A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3649771



Internal ID19367779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99049788..99049788hg38UCSC Ensembl
chr8:100062016..100062016hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16473998
Samples
Known GenesVPS13B
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)esv3649771
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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