A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584945



Internal ID18423729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:63132955..63152150hg38UCSC Ensembl
Innerchr18:60800188..60819383hg19UCSC Ensembl
Innerchr18:58951168..58970363hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3819196
hg1919196
hg1819196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838344
Samples2RB
Known GenesBCL2
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)esv3584945
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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