A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761773



Internal ID10029123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123131456..123238913hg38UCSC Ensembl
Innerchr12:123616003..123723460hg19UCSC Ensembl
Innerchr12:122181956..122289413hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38107458
hg19107458
hg18107458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997615
SamplesSW_0120
Known GenesC12orf65, MPHOSPH9
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)esv2761773
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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