A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022370



Internal ID10001421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106113331..106346129hg38UCSC Ensembl
Innerchr14:106567100..106802053hg19UCSC Ensembl
Innerchr14:105638145..105873098hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38232799
hg19234954
hg18234954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760346
Supporting Variants
SamplesRW_0583
Known GenesLINC00226
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)essv7022370
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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