A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3664578



Internal ID19382586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52590167..52590167hg38UCSC Ensembl
chr3:52624183..52624183hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16487323
Samples
Known GenesPBRM1
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)esv3664578
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