A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019360



Internal ID10342872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5768371..5787146hg38UCSC Ensembl
Innerchr11:5789601..5808376hg19UCSC Ensembl
Innerchr11:5746177..5764952hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3818776
hg1918776
hg1818776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760180
Supporting Variants
SamplesRW_0279
Known GenesOR52N5
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)essv7019360
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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