A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3675403



Internal ID19393411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133450135..133450192hg38UCSC Ensembl
chr6:133771273..133771330hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16497067
Samples
Known GenesEYA4
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)esv3675403
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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