A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16470263



Internal ID18987137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150475817..150475817hg38UCSC Ensembl
chr5:149855380..149855380hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3685762
Supporting Variants
Samples
Known GenesLOC102546298
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)essv16470263
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