A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019581



Internal ID10346489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:21589423..21693006hg38UCSC Ensembl
Innerchr11:21610969..21714552hg19UCSC Ensembl
Innerchr11:21567545..21671128hg18UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg38103584
hg19103584
hg18103584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762900
Supporting Variants
SamplesRW_0536
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)essv7019581
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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