A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3684941



Internal ID19402949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:28927301..28927301hg38UCSC Ensembl
chr5:28927408..28927408hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16469523
Samples
Known GenesLSP1P3
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)esv3684941
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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