A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4766162



Internal ID7351794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34020803..34020963hg38UCSC Ensembl
Outerchr10:34020663..34021117hg38UCSC Ensembl
Innerchr10:34309731..34309891hg19UCSC Ensembl
Outerchr10:34309591..34310045hg19UCSC Ensembl
Innerchr10:34349737..34349897hg18UCSC Ensembl
Outerchr10:34349597..34350051hg18UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg38455
hg19455
hg18455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2242760
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)essv4766162
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