A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv46e203



Internal ID22760742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:85965728..85978982hg38UCSC Ensembl
chr15:86508959..86522213hg19UCSC Ensembl
chr15:84309963..84323217hg18UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg3813255
hg1913255
hg1813255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2761655, esv2760368
SamplesSW_1057, RW_0023, RW_0279, SW_0076, RW_0257
Known Genes
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)dgv46e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer