A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16481264



Internal ID19344824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5165293..5165293hg38UCSC Ensembl
chr17:5068588..5068588hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3657844
Supporting Variants
Samples
Known GenesUSP6
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)essv16481264
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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