A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761888



Internal ID10374686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49790990..49832911hg38UCSC Ensembl
Innerchr15:50083187..50125108hg19UCSC Ensembl
Innerchr15:47870479..47912400hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3841922
hg1941922
hg1841922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000084, essv7000083
SamplesSW_1315, SW_1080
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)esv2761888
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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