A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10e194



Internal ID18981905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61901067..61901639hg38UCSC Ensembl
chr12:62294848..62295420hg19UCSC Ensembl
chr12:60581115..60581687hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38573
hg19573
hg18573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv1922664, esv1970267
SamplesNA18507
Known GenesFAM19A2
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)dgv10e194
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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