A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760381



Internal ID10376689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:38008262..38030264hg38UCSC Ensembl
Innerchr15:38300463..38322465hg19UCSC Ensembl
Innerchr15:36087755..36109757hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3822003
hg1922003
hg1822003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44e203
Supporting Variantsessv7023248, essv7023249
SamplesRW_0100, RW_0147
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)esv2760381
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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