A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760338



Internal ID10376646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:40574725..40704563hg38UCSC Ensembl
Innerchr14:41043930..41173768hg19UCSC Ensembl
Innerchr14:40113680..40243518hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38129839
hg19129839
hg18129839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7022115, essv7022116, essv7022117
SamplesRW_0075, RW_0555, RW_0541
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)esv2760338
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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