A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3661233



Internal ID19032555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37372250..37372250hg38UCSC Ensembl
chr21:38744552..38744552hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16484312
Samples
Known GenesDYRK1A
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)esv3661233
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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