A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4899215



Internal ID7138161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:192832..192922hg38UCSC Ensembl
Outerchr12:192666..193087hg38UCSC Ensembl
Innerchr12:301998..302088hg19UCSC Ensembl
Outerchr12:301832..302253hg19UCSC Ensembl
Innerchr12:172259..172349hg18UCSC Ensembl
Outerchr12:172093..172514hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38422
hg19422
hg18422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2319687
Supporting Variants
SamplesNA18507
Known GenesSLC6A12
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)essv4899215
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