A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16474127



Internal ID18991001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121651130..121651130hg38UCSC Ensembl
chr8:122663370..122663370hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3649915
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)essv16474127
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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