A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760368



Internal ID10376676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:85965728..85978982hg38UCSC Ensembl
Innerchr15:86508959..86522213hg19UCSC Ensembl
Innerchr15:84309963..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 Variantsdgv46e203
Supporting Variantsessv7023513, essv7023511, essv7023512
SamplesRW_0023, RW_0279, 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)esv2760368
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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