A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3664259



Internal ID19035581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13320891..13320891hg38UCSC Ensembl
chr3:13362391..13362391hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16487037
Samples
Known GenesNUP210
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)esv3664259
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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