A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760248



Internal ID10376556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27941811..27957416hg38UCSC Ensembl
Innerchr12:28094744..28110349hg19UCSC Ensembl
Innerchr12:27986011..28001616hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3815606
hg1915606
hg1815606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020781, essv7020780, essv7020784, essv7020782, essv7020783
SamplesRW_0208, RW_0354, RW_0357, RW_0238, RW_0107
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)esv2760248
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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