A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020256



Internal ID10350823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107460607..107468429hg38UCSC Ensembl
Innerchr11:107331333..107339155hg19UCSC Ensembl
Innerchr11:106836543..106844365hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg387823
hg197823
hg187823
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760168
Supporting Variants
SamplesRW_0652
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)essv7020256
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer