A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3673231



Internal ID19044553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36476223..36476463hg38UCSC Ensembl
chr14:36945428..36945668hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16495111
Samples
Known GenesSFTA3
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)esv3673231
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