A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2276274



Internal ID914367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88423677..88423851hg38UCSC Ensembl
Outerchr14:88423520..88424026hg38UCSC Ensembl
Innerchr14:88890021..88890195hg19UCSC Ensembl
Outerchr14:88889864..88890370hg19UCSC Ensembl
Innerchr14:87959774..87959948hg18UCSC Ensembl
Outerchr14:87959617..87960123hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38507
hg19507
hg18507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4814305
SamplesNA18507
Known GenesSPATA7
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)esv2276274
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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