A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16478061



Internal ID18994935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103981226..103981226hg38UCSC Ensembl
chr12:104375004..104375004hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3654286
Supporting Variants
Samples
Known GenesTDG
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)essv16478061
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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