A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv25e194



Internal ID20123168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86145013..86145601hg38UCSC Ensembl
chr4:87066166..87066754hg19UCSC Ensembl
chr4:87285190..87285778hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38589
hg19589
hg18589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2205262, esv2410554
SamplesNA18507
Known GenesMAPK10
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)dgv25e194
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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