A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760235



Internal ID10376543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129237205..129258484hg38UCSC Ensembl
Innerchr12:129721750..129743029hg19UCSC Ensembl
Innerchr12:128287703..128308982hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3821280
hg1921280
hg1821280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021136, essv7021137, essv7021138
SamplesRW_0354, RW_0111, RW_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)esv2760235
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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