A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv17e213



Internal ID22786035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19896400..20086060hg38UCSC Ensembl
chr15:20101653..20291313hg19UCSC Ensembl
chr15:18361667..18551327hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38189661
hg19189661
hg18189661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584677, esv3584678
SamplesKSF005, OA0039
Known Genes
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)dgv17e213
Frequency
Sample Size34
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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