A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762982



Internal ID10030332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59266090..59606354hg38UCSC Ensembl
Innerchr12:59659871..60000135hg19UCSC Ensembl
Innerchr12:57946138..58286402hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38340265
hg19340265
hg18340265
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020949
SamplesRW_0197
Known GenesSLC16A7
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)esv2762982
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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