A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3657846



Internal ID19375854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5414836..5414836hg38UCSC Ensembl
chr17:5318156..5318156hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16481266
Samples
Known GenesNUP88
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)esv3657846
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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