A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1917341



Internal ID7247196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3299116..3299596hg38UCSC Ensembl
Outerchr1:3299055..3299652hg38UCSC Ensembl
Innerchr1:3215680..3216160hg19UCSC Ensembl
Outerchr1:3215619..3216216hg19UCSC Ensembl
Innerchr1:3205540..3206020hg18UCSC Ensembl
Outerchr1:3205479..3206076hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38598
hg19598
hg18598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4748244
SamplesNA18507
Known GenesPRDM16
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)esv1917341
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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