A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762259



Internal ID10029609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:66882596..66938855hg38UCSC Ensembl
Innerchr2:67109728..67165987hg19UCSC Ensembl
Innerchr2:66963232..67019491hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3856260
hg1956260
hg1856260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007681
SamplesRW_0292
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)esv2762259
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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