A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996246



Internal ID10366914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:91425567..91595128hg38UCSC Ensembl
Innerchr11:91158733..91328294hg19UCSC Ensembl
Innerchr11:90798381..90967942hg18UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38169562
hg19169562
hg18169562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761696
Supporting Variants
SamplesSW_1201
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)essv6996246
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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