A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16487240



Internal ID19350800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42369144..42369144hg38UCSC Ensembl
chr3:42410636..42410636hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3664484
Supporting Variants
Samples
Known Genes
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)essv16487240
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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