A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16473954



Internal ID18990828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94383284..94383284hg38UCSC Ensembl
chr8:95395512..95395512hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3649723
Supporting Variants
Samples
Known GenesRAD54B
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)essv16473954
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