A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16478005



Internal ID18994879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50730441..50730515hg38UCSC Ensembl
chr17:48807802..48807876hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3654224
Supporting Variants
Samples
Known GenesLUC7L3
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)essv16478005
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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