A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3668323



Internal ID19386331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:101551616..101551616hg38UCSC Ensembl
chr9:104313898..104313898hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16490695
Samples
Known GenesRNF20
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)esv3668323
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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