A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9752371



Internal ID18379931
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 StatusS
Merged Variantsesv3553624
Supporting Variants
Samples
Known GenesAARS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9752371
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer