A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022472



Internal ID9986352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106677179..106877229hg38UCSC Ensembl
Innerchr14:107133196..107285437hg19UCSC Ensembl
Innerchr14:106204241..106356482hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38200051
hg19152242
hg18152242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760346
Supporting Variants
SamplesRW_0034
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)essv7022472
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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