A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994101



Internal ID10372752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:110834943..110841350hg38UCSC Ensembl
Innerchr1:111377565..111383972hg19UCSC Ensembl
Innerchr1:111179088..111185495hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg386408
hg196408
hg186408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762298
Supporting Variants
SamplesSW_1457
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)essv6994101
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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