A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761699



Internal ID10029049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:85236347..85569198hg38UCSC Ensembl
Innerchr15:85779578..86112429hg19UCSC Ensembl
Innerchr15:83580582..83913433hg18UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38332852
hg19332852
hg18332852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000400, essv7000401
SamplesSW_1167, SW_0241
Known GenesAKAP13
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)esv2761699
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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