A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020162



Internal ID10338945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:87595325..87618264hg38UCSC Ensembl
Innerchr11:87306217..87329156hg19UCSC Ensembl
Innerchr11:86983865..87006804hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3822940
hg1922940
hg1822940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760195
Supporting Variants
SamplesRW_0189
Known Genes
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)essv7020162
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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