A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020171



Internal ID10000996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:92971992..92974022hg38UCSC Ensembl
Innerchr11:92705158..92707188hg19UCSC Ensembl
Innerchr11:92344806..92346836hg18UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg382031
hg192031
hg182031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760202
Supporting Variants
SamplesRW_0571
Known GenesMTNR1B
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)essv7020171
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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