A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3671365



Internal ID19042688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45330022..45330022hg38UCSC Ensembl
chr1:45795694..45795694hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16493431
Samples
Known GenesMUTYH
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)esv3671365
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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