A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761214



Internal ID10028576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18903877..19139250hg38UCSC Ensembl
Innerchr8:18761387..18996760hg19UCSC Ensembl
Innerchr8:18805667..19041040hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38235374
hg19235374
hg18235374
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016528, essv7016530, essv7016527, essv7016520, essv7016519, essv7016525, essv7016524, essv7016521, essv7016529, essv7016526, essv7016531, essv7016518, essv7016517
SamplesRW_0281, RW_0333, RW_0318, RW_0154, RW_0620, RW_0173, RW_0500, RW_0326, RW_0540, RW_0575, RW_0621, RW_0246, RW_0644
Known GenesPSD3
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)esv2761214
Frequency
Sample Size1109
Observed Gain1
Observed Loss12
Observed Complex0
Frequencyn/a


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