A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584900



Internal ID18770370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:149481..208366hg38UCSC Ensembl
Innerchr9:149481..208366hg19UCSC Ensembl
Innerchr9:139481..198366hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3858886
hg1958886
hg1858886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838696
SamplesOA053
Known GenesCBWD1
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)esv3584900
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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