A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997436



Internal ID10357811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70478895..70484247hg38UCSC Ensembl
Innerchr12:70872675..70878027hg19UCSC Ensembl
Innerchr12:69158942..69164294hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg385353
hg195353
hg185353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761099
Supporting Variants
SamplesSW_0626
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)essv6997436
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