A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2354690



Internal ID992783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11873429..11874223hg38UCSC Ensembl
Outerchr12:11873321..11874345hg38UCSC Ensembl
Innerchr12:12026363..12027157hg19UCSC Ensembl
Outerchr12:12026255..12027279hg19UCSC Ensembl
Innerchr12:11917630..11918424hg18UCSC Ensembl
Outerchr12:11917522..11918546hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381025
hg191025
hg181025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4778575
SamplesNA18507
Known GenesETV6, RNU6-19P
MethodSequencing
AnalysisHierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.
PlatformNot specified
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2354690
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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