A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4508897



Internal ID7094529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:12449819..12455939hg38UCSC Ensembl
Outerchr17:12449642..12456115hg38UCSC Ensembl
Innerchr17:12353136..12359256hg19UCSC Ensembl
Outerchr17:12352959..12359432hg19UCSC Ensembl
Innerchr17:12293861..12299981hg18UCSC Ensembl
Outerchr17:12293684..12300157hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg386474
hg196474
hg186474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2228284
Supporting Variants
SamplesNA18507
Known Genes
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)essv4508897
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