A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3664129



Internal ID19382137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24179104..24179104hg38UCSC Ensembl
chr1:24505594..24505594hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16486920
Samples
Known GenesIFNLR1
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)esv3664129
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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