A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv19e194



Internal ID20123162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17876571..17877224hg38UCSC Ensembl
chr22:18359337..18359990hg19UCSC Ensembl
chr22:16739337..16739990hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38654
hg19654
hg18654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2122695, esv2198169
SamplesNA18507
Known GenesMICAL3
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)dgv19e194
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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