A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16493726



Internal ID19357286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73788317..73788421hg38UCSC Ensembl
chr4:74654034..74654138hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3671692
Supporting Variants
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)essv16493726
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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