A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16484337



Internal ID19347897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30598914..30598978hg38UCSC Ensembl
chr22:30994901..30994965hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3661260
Supporting Variants
Samples
Known GenesPES1
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)essv16484337
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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