A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3685054



Internal ID19056376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43307316..43307316hg38UCSC Ensembl
chr5:43307418..43307418hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16469625
Samples
Known GenesHMGCS1
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)esv3685054
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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