A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2145066



Internal ID7469491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214622688..214622894hg38UCSC Ensembl
Outerchr1:214622616..214622957hg38UCSC Ensembl
Innerchr1:214796031..214796237hg19UCSC Ensembl
Outerchr1:214795959..214796300hg19UCSC Ensembl
Innerchr1:212862654..212862860hg18UCSC Ensembl
Outerchr1:212862582..212862923hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38342
hg19342
hg18342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4507931
SamplesNA18507
Known GenesCENPF
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)esv2145066
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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