A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584481



Internal ID18769951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16499960..16745245hg38UCSC Ensembl
Innerchr22:16980850..17226135hg19UCSC Ensembl
Innerchr22:15360850..15606135hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38245286
hg19245286
hg18245286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837844
SamplesB10
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1
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)esv3584481
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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