A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3659430



Internal ID19377438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27279748..27279748hg38UCSC Ensembl
chr2:27502616..27502616hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16482691
Samples
Known GenesDNAJC5G
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)esv3659430
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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