A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv22e213



Internal ID19010321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34408482..34538743hg38UCSC Ensembl
chr15:34700683..34830944hg19UCSC Ensembl
chr15:32487975..32618236hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38130262
hg19130262
hg18130262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584921, esv3584922
SamplesOA005, OA091, KSM006, OA072
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)dgv22e213
Frequency
Sample Size34
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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