A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16480549



Internal ID19344109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3517947..3518001hg38UCSC Ensembl
chr19:3517945..3517999hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3657050
Supporting Variants
Samples
Known GenesFZR1
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)essv16480549
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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