A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838255



Internal ID18422309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35073883..35086064hg38UCSC Ensembl
Innerchr22:35469876..35482057hg19UCSC Ensembl
Innerchr22:33799876..33812057hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3812182
hg1912182
hg1812182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584500
Supporting Variants
Samples8S
Known GenesISX
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)essv9838255
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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