A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16490604



Internal ID19007478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50686927..50687210hg38UCSC Ensembl
chr3:50724358..50724641hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3668223
Supporting Variants
Samples
Known GenesDOCK3
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)essv16490604
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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