A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023126



Internal ID9988559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32196673..32220019hg38UCSC Ensembl
Innerchr15:32488874..32512220hg19UCSC Ensembl
Innerchr15:30276166..30299512hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg3823347
hg1923347
hg1823347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760365
Supporting Variants
SamplesRW_0099
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)essv7023126
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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