A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16473804



Internal ID19337364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89020144..89020227hg38UCSC Ensembl
chr14:89486488..89486571hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3649557
Supporting Variants
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)essv16473804
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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