A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3684536



Internal ID19055858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126226193..126226430hg38UCSC Ensembl
chr11:126096088..126096325hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16469160
Samples
Known GenesFAM118B
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)esv3684536
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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