A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3653920



Internal ID19371928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56429584..56429584hg38UCSC Ensembl
chr12:56823368..56823368hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16477731
Samples
Known GenesTIMELESS
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)esv3653920
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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