A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584579



Internal ID18423363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27560777..27566328hg38UCSC Ensembl
Innerchr8:27418294..27423845hg19UCSC Ensembl
Innerchr8:27474211..27479762hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg385552
hg195552
hg185552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838037, essv9838038
Samples2RB, B4
Known Genes
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)esv3584579
Frequency
Sample Size34
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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