A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16496689



Internal ID19360249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67518386..67519484hg38UCSC Ensembl
chr4:68384104..68385202hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381099
hg191099
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3674983
Supporting Variants
Samples
Known GenesCENPC
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)essv16496689
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