A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3657890



Internal ID19375898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3310270..3310351hg38UCSC Ensembl
chr6:3310504..3310585hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16481304
Samples
Known GenesSLC22A23
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)esv3657890
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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