A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760362



Internal ID10376670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21580280..21587633hg38UCSC Ensembl
Innerchr14:22048414..22055757hg19UCSC Ensembl
Innerchr14:21118254..21125597hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg387354
hg197344
hg187344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7022067, essv7022056, essv7022065, essv7022059, essv7022064, essv7022062, essv7022058, essv7022061, essv7022060, essv7022057, essv7022063
SamplesRW_0620, RW_0123, RW_0636, RW_0511, RW_0614, RW_0510, RW_0346, RW_0281, RW_0193, RW_0014, RW_0057
Known Genes
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)esv2760362
Frequency
Sample Size1109
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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