A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543727



Internal ID18744803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80307646..80307727hg38UCSC Ensembl
chr8:81219881..81219962hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742474
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543727
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