A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3675744



Internal ID19393752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138748963..138749101hg38UCSC Ensembl
chr5:138084652..138084790hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16497373
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)esv3675744
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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