A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16493128



Internal ID19356688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46446259..46446259hg38UCSC Ensembl
chr3:46487750..46487750hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3671026
Supporting Variants
Samples
Known GenesLTF
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)essv16493128
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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