A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022442



Internal ID9989395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106423925..106478542hg38UCSC Ensembl
Innerchr14:106879831..106934548hg19UCSC Ensembl
Innerchr14:105950876..106005593hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3854618
hg1954718
hg1854718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760346
Supporting Variants
SamplesRW_0118
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)essv7022442
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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