A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838594



Internal ID18422287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25046609..25084673hg38UCSC Ensembl
Innerchr15:25291756..25329820hg19UCSC Ensembl
Innerchr15:22842849..22880913hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3838065
hg1938065
hg1838065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584898
Supporting Variants
Samples8S
Known GenesSNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-19, SNORD116-2, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9
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)essv9838594
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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