A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000087



Internal ID10012452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:53908153..53910302hg38UCSC Ensembl
Innerchr15:54200350..54202499hg19UCSC Ensembl
Innerchr15:51987642..51989791hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg382150
hg192150
hg182150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761899
Supporting Variants
SamplesSW_0757
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)essv7000087
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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