A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16465895



Internal ID19329455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18383207..18383373hg38UCSC Ensembl
chr21:19755524..19755690hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3666707
Supporting Variants
Samples
Known GenesTMPRSS15
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)essv16465895
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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