A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3668266



Internal ID19039588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76709263..76709263hg38UCSC Ensembl
chr9:79324179..79324179hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16490643
Samples
Known GenesPRUNE2
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)esv3668266
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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