A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3675944



Internal ID19393952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179693332..179693467hg38UCSC Ensembl
chr5:179120333..179120468hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16497553
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)esv3675944
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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