A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2291090



Internal ID7615515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47426950..47427044hg38UCSC Ensembl
Outerchr2:47426773..47427212hg38UCSC Ensembl
Innerchr2:47654089..47654183hg19UCSC Ensembl
Outerchr2:47653912..47654351hg19UCSC Ensembl
Innerchr2:47507593..47507687hg18UCSC Ensembl
Outerchr2:47507416..47507855hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38440
hg19440
hg18440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4691703
SamplesNA18507
Known GenesMSH2
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)esv2291090
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer