A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3683514



Internal ID19054836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171006248..171006309hg38UCSC Ensembl
chr3:170724037..170724098hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16468240
Samples
Known GenesSLC2A2
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)esv3683514
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer