A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761522



Internal ID10028875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63298955..63400971hg38UCSC Ensembl
Innerchr14:63765673..63867689hg19UCSC Ensembl
Innerchr14:62835426..62937442hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38102017
hg19102017
hg18102017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998624, essv6998621, essv6998623, essv6998625
SamplesSW_0061, SW_1031, SW_0538, SW_1504
Known GenesGPHB5, PPP2R5E
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)esv2761522
Frequency
Sample Size1109
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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