A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023268



Internal ID10004486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43637153..43703690hg38UCSC Ensembl
Innerchr15:43929351..43995888hg19UCSC Ensembl
Innerchr15:41716643..41783180hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3866538
hg1966538
hg1866538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760393
Supporting Variants
SamplesRW_0663
Known GenesCATSPER2, CKMT1A
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)essv7023268
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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