A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2197125



Internal ID835218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:148309464..148309710hg38UCSC Ensembl
Outerchr4:148309420..148309800hg38UCSC Ensembl
Innerchr4:149230616..149230862hg19UCSC Ensembl
Outerchr4:149230572..149230952hg19UCSC Ensembl
Innerchr4:149450066..149450312hg18UCSC Ensembl
Outerchr4:149450022..149450402hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38381
hg19381
hg18381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4997721
SamplesNA18507
Known GenesNR3C2
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)esv2197125
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