A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16469441



Internal ID19333001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16928819..16928819hg38UCSC Ensembl
chr5:16928928..16928928hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3684850
Supporting Variants
Samples
Known GenesMYO10
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)essv16469441
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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