A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3674829



Internal ID19046151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148732758..148732877hg38UCSC Ensembl
chr3:148450545..148450664hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16496550
Samples
Known GenesAGTR1
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)esv3674829
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