A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584701



Internal ID18423485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14896006..15014730hg38UCSC Ensembl
Innerchr16:14989863..15108587hg19UCSC Ensembl
Innerchr16:14897364..15016088hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38118725
hg19118725
hg18118725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838824, essv9838825, essv9838821
Samples1WS, OA074, OA018b
Known GenesLOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, PDXDC1
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)esv3584701
Frequency
Sample Size34
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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