A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995504



Internal ID10007629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5451505..5459415hg38UCSC Ensembl
Innerchr11:5472735..5480645hg19UCSC Ensembl
Innerchr11:5429311..5437221hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg387911
hg197911
hg187911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761647
Supporting Variants
SamplesSW_0169
Known GenesOR51B5, OR51I2
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)essv6995504
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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