A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1921685



Internal ID7249964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:1409887..1410070hg38UCSC Ensembl
Outerchr10:1409817..1410151hg38UCSC Ensembl
Innerchr10:1452082..1452265hg19UCSC Ensembl
Outerchr10:1452012..1452346hg19UCSC Ensembl
Innerchr10:1442082..1442265hg18UCSC Ensembl
Outerchr10:1442012..1442346hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38335
hg19335
hg18335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4785314
SamplesNA18507
Known GenesADARB2
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)esv1921685
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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