A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761841



Internal ID10029191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66586340..66656933hg38UCSC Ensembl
Innerchr14:67053058..67123651hg19UCSC Ensembl
Innerchr14:66122811..66193404hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3870594
hg1970594
hg1870594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998627
SamplesSW_1314
Known GenesGPHN
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)esv2761841
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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