A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3669648



Internal ID19040970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4797618..4797618hg38UCSC Ensembl
chr16:4847619..4847619hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16491888
Samples
Known GenesROGDI
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)esv3669648
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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