A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762040



Internal ID10029390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39767502..39782776hg38UCSC Ensembl
Innerchr19:40258142..40273416hg19UCSC Ensembl
Innerchr19:44949982..44965256hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3815275
hg1915275
hg1815275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003390
SamplesSW_1130
Known GenesLEUTX
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)esv2762040
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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