A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3666149



Internal ID19037471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56980089..56980089hg38UCSC Ensembl
chr4:57846255..57846255hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16488738
Samples
Known GenesPOLR2B
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)esv3666149
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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