A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16468148



Internal ID18985022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33313227..33313305hg38UCSC Ensembl
chr1:33778828..33778906hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3683412
Supporting Variants
Samples
Known GenesA3GALT2
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)essv16468148
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