A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3661729



Internal ID19379737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45182642..45182825hg38UCSC Ensembl
chr22:45578523..45578706hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16484760
Samples
Known GenesNUP50
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)esv3661729
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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