A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3674747



Internal ID19392755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69320387..69320541hg38UCSC Ensembl
chr3:69369538..69369692hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16496476
Samples
Known GenesFRMD4B
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)esv3674747
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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