A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3672982



Internal ID19044304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43797096..43797302hg38UCSC Ensembl
chr12:44190899..44191105hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16494888
Samples
Known GenesTWF1
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)esv3672982
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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