A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540820



Internal ID18395210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163322927..163323000hg38UCSC Ensembl
chr6:163743959..163744032hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739567
Samples
Known GenesPACRG-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540820
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