A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16479251



Internal ID18996125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244854162..244854162hg38UCSC Ensembl
chr1:245017464..245017464hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3655608
Supporting Variants
Samples
Known GenesHNRNPU
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)essv16479251
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