A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16491226



Internal ID19354786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118023454..118023454hg38UCSC Ensembl
chr11:117894169..117894169hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3668913
Supporting Variants
Samples
Known GenesTMPRSS4-AS1
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)essv16491226
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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