A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3668733



Internal ID19040055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4095444..4095444hg38UCSC Ensembl
chr11:4116674..4116674hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16491064
Samples
Known GenesRRM1
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)esv3668733
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