A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16468300



Internal ID18985174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187725352..187725424hg38UCSC Ensembl
chr3:187443140..187443212hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3683580
Supporting Variants
Samples
Known GenesBCL6, LOC100131635
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)essv16468300
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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