A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3668004



Internal ID19039326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28113465..28113465hg38UCSC Ensembl
chr8:27970982..27970982hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16490407
Samples
Known GenesELP3
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)esv3668004
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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