A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv21e213



Internal ID19010320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34386576..34570522hg38UCSC Ensembl
chr15:34678777..34862723hg19UCSC Ensembl
chr15:32466069..32650015hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38183947
hg19183947
hg18183947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584690, esv3584691, esv3584693, esv3584692
SamplesB10, KSF008, OA062, 2RB, OA074, OA053, 3LK, KSF024, OA092, KSM008, OA020, 1WS, OA018b, KSM003, OA017, OA2A, B4, OA016
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)dgv21e213
Frequency
Sample Size34
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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