A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3649603



Internal ID19020925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73803770..73803770hg38UCSC Ensembl
chr8:74716005..74716005hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16473846
Samples
Known GenesUBE2W
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)esv3649603
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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