A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2411059



Internal ID7735486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212297814..212299275hg38UCSC Ensembl
Outerchr1:212297601..212299477hg38UCSC Ensembl
Innerchr1:212471156..212472617hg19UCSC Ensembl
Outerchr1:212470943..212472819hg19UCSC Ensembl
Innerchr1:210537779..210539240hg18UCSC Ensembl
Outerchr1:210537566..210539442hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381877
hg191877
hg181877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4528478
SamplesNA18507
Known GenesPPP2R5A
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)esv2411059
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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