A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762976



Internal ID10377687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44575648..44606445hg38UCSC Ensembl
Innerchr12:44969431..45000228hg19UCSC Ensembl
Innerchr12:43255698..43286495hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3830798
hg1930798
hg1830798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020938
SamplesRW_0002
Known GenesNELL2
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)esv2762976
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