A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2355903



Internal ID993996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150062179..150062603hg38UCSC Ensembl
Outerchr5:150061982..150062793hg38UCSC Ensembl
Innerchr5:149441742..149442166hg19UCSC Ensembl
Outerchr5:149441545..149442356hg19UCSC Ensembl
Innerchr5:149421935..149422359hg18UCSC Ensembl
Outerchr5:149421738..149422549hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38812
hg19812
hg18812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4945724
SamplesNA18507
Known GenesCSF1R
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)esv2355903
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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