A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3686602



Internal ID19404610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54886253..54886253hg38UCSC Ensembl
chr6:54751051..54751051hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16471019
Samples
Known GenesFAM83B
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)esv3686602
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