A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2306417



Internal ID7630842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33688356..33688425hg38UCSC Ensembl
Outerchr5:33688170..33688592hg38UCSC Ensembl
Innerchr5:33688461..33688530hg19UCSC Ensembl
Outerchr5:33688275..33688697hg19UCSC Ensembl
Innerchr5:33724218..33724287hg18UCSC Ensembl
Outerchr5:33724032..33724454hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38423
hg19423
hg18423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4517214
SamplesNA18507
Known GenesADAMTS12
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)esv2306417
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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