A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997339



Internal ID10023817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33146857..33172081hg38UCSC Ensembl
Innerchr12:33299791..33325015hg19UCSC Ensembl
Innerchr12:33191058..33216282hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3825225
hg1925225
hg1825225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761043
Supporting Variants
SamplesSW_1361
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)essv6997339
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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