A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3649539



Internal ID19020861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66724059..66724059hg38UCSC Ensembl
chr8:67636294..67636294hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16473789
Samples
Known GenesC8orf44-SGK3, SGK3
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)esv3649539
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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