A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2130547



Internal ID7454973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124431120..124431204hg38UCSC Ensembl
Outerchr12:124430910..124431416hg38UCSC Ensembl
Innerchr12:124915666..124915750hg19UCSC Ensembl
Outerchr12:124915456..124915962hg19UCSC Ensembl
Innerchr12:123481619..123481703hg18UCSC Ensembl
Outerchr12:123481409..123481915hg18UCSC Ensembl
Cytoband12q24.31
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 Variantsessv4673045
SamplesNA18507
Known GenesNCOR2
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)esv2130547
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