A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019242



Internal ID9985277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4973096..4974759hg38UCSC Ensembl
Innerchr11:4994326..4995989hg19UCSC Ensembl
Innerchr11:4950902..4952565hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381664
hg191664
hg181664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760169
Supporting Variants
SamplesRW_0010
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)essv7019242
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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