A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20e213



Internal ID19010319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30488460..30807423hg38UCSC Ensembl
chr15:30780663..31099626hg19UCSC Ensembl
chr15:28567955..28886918hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38318964
hg19318964
hg18318964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584686, esv3584685
SamplesKSM008, KSM003
Known GenesARHGAP11B, GOLGA8H, LOC100288637, ULK4P1, ULK4P2
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)dgv20e213
Frequency
Sample Size34
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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