A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995927



Internal ID10024553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:49710014..50004465hg38UCSC Ensembl
Innerchr11:49731566..50025986hg19UCSC Ensembl
Innerchr11:49688142..49982562hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38294452
hg19294421
hg18294421
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760533
Supporting Variants
SamplesSW_1396
Known GenesLOC440040, OR4C12, OR4C13
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)essv6995927
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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