A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3675079



Internal ID19393087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:134713330..134713408hg38UCSC Ensembl
chr4:135634485..135634563hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16496775
Samples
Known Genes
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)esv3675079
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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