A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996330



Internal ID10026872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125205555..125218604hg38UCSC Ensembl
Innerchr11:125075451..125088500hg19UCSC Ensembl
Innerchr11:124580661..124593710hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3813050
hg1913050
hg1813050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760455
Supporting Variants
SamplesSW_1506
Known GenesPKNOX2
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)essv6996330
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