A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584775



Internal ID18770245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15487300..15825930hg38UCSC Ensembl
Innerchr22:16152033..16490663hg19UCSC Ensembl
Innerchr22:14532033..14870663hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38338631
hg19338631
hg18338631
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837879
Samples1WS
Known GenesBMS1P17, BMS1P18, OR11H1, POTEH
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)esv3584775
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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