A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553624



Internal ID18408014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70269325..70269382hg38UCSC Ensembl
chr16:70303228..70303285hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752371
Samples
Known GenesAARS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553624
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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