A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4919632



Internal ID7505264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:8586986..8587047hg38UCSC Ensembl
Outerchr10:8586814..8587209hg38UCSC Ensembl
Innerchr10:8628949..8629010hg19UCSC Ensembl
Outerchr10:8628777..8629172hg19UCSC Ensembl
Innerchr10:8668955..8669016hg18UCSC Ensembl
Outerchr10:8668783..8669178hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38396
hg19396
hg18396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1930363
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)essv4919632
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