A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999875



Internal ID10024141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31696737..32220019hg38UCSC Ensembl
Innerchr15:31988940..32512220hg19UCSC Ensembl
Innerchr15:29776232..30299512hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38523283
hg19523281
hg18523281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761877
Supporting Variants
SamplesSW_1375
Known GenesCHRNA7
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)essv6999875
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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