A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16475783



Internal ID19339343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19240965..19241030hg38UCSC Ensembl
chr16:19252287..19252352hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3651755
Supporting Variants
Samples
Known GenesSYT17
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)essv16475783
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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