A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021138



Internal ID10332971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129247812..129255889hg38UCSC Ensembl
Innerchr12:129732357..129740434hg19UCSC Ensembl
Innerchr12:128298310..128306387hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg388078
hg198078
hg188078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760235
Supporting Variants
SamplesRW_0033
Known GenesTMEM132D
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)essv7021138
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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