A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16492113



Internal ID19008987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60178463..60178463hg38UCSC Ensembl
chr17:58255824..58255824hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3669899
Supporting Variants
Samples
Known GenesUSP32
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)essv16492113
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