A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3684791



Internal ID19402799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9633837..9633837hg38UCSC Ensembl
chr5:9633949..9633949hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16469389
Samples
Known Genes
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)esv3684791
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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