A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3680834



Internal ID19398842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70059288..70059348hg38UCSC Ensembl
chr8:70971523..70971583hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16501955
Samples
Known GenesPRDM14
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)esv3680834
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