A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997180



Internal ID10369281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30086334..30091017hg38UCSC Ensembl
Innerchr12:30239267..30243950hg19UCSC Ensembl
Innerchr12:30130534..30135217hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg384684
hg194684
hg184684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760866
Supporting Variants
SamplesSW_1298
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)essv6997180
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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