A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16484354



Internal ID19347914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42572677..42572677hg38UCSC Ensembl
chr21:43992787..43992787hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3661279
Supporting Variants
Samples
Known GenesSLC37A1
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)essv16484354
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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