A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16481037



Internal ID19344597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17242027..17242202hg38UCSC Ensembl
chr19:17352836..17353011hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3657592
Supporting Variants
Samples
Known GenesNR2F6
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)essv16481037
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