A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16470469



Internal ID19334029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178562249..178562249hg38UCSC Ensembl
chr5:177989250..177989250hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3685991
Supporting Variants
Samples
Known GenesCOL23A1
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)essv16470469
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer