A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995941



Internal ID10014088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55606556..55663588hg38UCSC Ensembl
Innerchr11:55374032..55431064hg19UCSC Ensembl
Innerchr11:55130608..55187640hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3857033
hg1957033
hg1857033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760311
Supporting Variants
SamplesSW_0844
Known GenesOR4P4, OR4S2
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)essv6995941
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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