A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16494947



Internal ID19011821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114388080..114388081hg38UCSC Ensembl
chr12:114825885..114825886hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3673048
Supporting Variants
Samples
Known GenesTBX5
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)essv16494947
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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