A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16484137



Internal ID19347697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17103837..17104287hg38UCSC Ensembl
chr22:17584727..17585177hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3661037
Supporting Variants
Samples
Known GenesIL17RA
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)essv16484137
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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