A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16494397



Internal ID19357957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:37489200..37489201hg38UCSC Ensembl
chr9:37489197..37489198hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3672437
Supporting Variants
Samples
Known GenesPOLR1E
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)essv16494397
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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