A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761739



Internal ID10029089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51839320..51895098hg38UCSC Ensembl
Innerchr12:52233104..52288882hg19UCSC Ensembl
Innerchr12:50519371..50575149hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3855779
hg1955779
hg1855779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997395
SamplesSW_0203
Known GenesANKRD33
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)esv2761739
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