A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997380



Internal ID10005686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34103774..34122471hg38UCSC Ensembl
Innerchr12:34256709..34275406hg19UCSC Ensembl
Innerchr12:34147976..34166673hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3818698
hg1918698
hg1818698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761043
Supporting Variants
SamplesSW_0046
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)essv6997380
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