A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020343



Internal ID10347341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7842191..7971304hg38UCSC Ensembl
Innerchr12:7994787..8123900hg19UCSC Ensembl
Innerchr12:7886054..8015167hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38129114
hg19129114
hg18129114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760250
Supporting Variants
SamplesRW_0560
Known GenesSLC2A14, SLC2A3
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)essv7020343
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