A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3683072



Internal ID19054394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38113449..38113585hg38UCSC Ensembl
chr3:38154940..38155076hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16467841
Samples
Known GenesDLEC1
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)esv3683072
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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