A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998481



Internal ID10362344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:40090392..40347032hg38UCSC Ensembl
Innerchr14:40559596..40816236hg19UCSC Ensembl
Innerchr14:39629347..39885986hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38256641
hg19256641
hg18256640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761827
Supporting Variants
SamplesSW_1033
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)essv6998481
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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