A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2014648



Internal ID652741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:6055425..6055904hg38UCSC Ensembl
Outerchr10:6055216..6056108hg38UCSC Ensembl
Innerchr10:6097388..6097867hg19UCSC Ensembl
Outerchr10:6097179..6098071hg19UCSC Ensembl
Innerchr10:6137394..6137873hg18UCSC Ensembl
Outerchr10:6137185..6138077hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38893
hg19893
hg18893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4719118
SamplesNA18507
Known GenesIL2RA
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)esv2014648
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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