A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543909



Internal ID18744985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97896669..97896831hg38UCSC Ensembl
Outerchr8:97896645..97896860hg38UCSC Ensembl
Innerchr8:98908897..98909059hg19UCSC Ensembl
Outerchr8:98908873..98909088hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742656
Samples
Known GenesMATN2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543909
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