A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022468



Internal ID10004417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106483781..106771605hg38UCSC Ensembl
Innerchr14:106939788..107179847hg19UCSC Ensembl
Innerchr14:106010833..106250892hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38287825
hg19240060
hg18240060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760346
Supporting Variants
SamplesRW_0662
Known GenesLINC00221
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)essv7022468
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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