A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2335374



Internal ID8006486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:88695210..88695387hg38UCSC Ensembl
Outerchr10:88695105..88695507hg38UCSC Ensembl
Innerchr10:90454967..90455144hg19UCSC Ensembl
Outerchr10:90454862..90455264hg19UCSC Ensembl
Innerchr10:90444947..90445124hg18UCSC Ensembl
Outerchr10:90444842..90445244hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38403
hg19403
hg18403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4705756
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)esv2335374
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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