A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760704



Internal ID10028066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10336545..10473238hg38UCSC Ensembl
Innerchr21:11039219..11175912hg19UCSC Ensembl
Innerchr21:10061090..10197783hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38136694
hg19136694
hg18136694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026395, essv7026396
SamplesRW_0539, RW_0593
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
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)esv2760704
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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