A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019795



Internal ID10347255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:38436398..38449121hg38UCSC Ensembl
Innerchr11:38457948..38470671hg19UCSC Ensembl
Innerchr11:38414524..38427247hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3812724
hg1912724
hg1812724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760184
Supporting Variants
SamplesRW_0558
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)essv7019795
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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