A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16497138



Internal ID19014012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58978199..58978334hg38UCSC Ensembl
chr5:58274026..58274161hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3675482
Supporting Variants
Samples
Known GenesPDE4D
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)essv16497138
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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