A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995903



Internal ID10019999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:49686823..49736914hg38UCSC Ensembl
Innerchr11:49708375..49758466hg19UCSC Ensembl
Innerchr11:49664951..49715042hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg3850092
hg1950092
hg1850092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760533
Supporting Variants
SamplesSW_1192
Known GenesLOC440040
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)essv6995903
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