A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1937162



Internal ID575255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21928311..21928521hg38UCSC Ensembl
Outerchr12:21928225..21928599hg38UCSC Ensembl
Innerchr12:22081245..22081455hg19UCSC Ensembl
Outerchr12:22081159..22081533hg19UCSC Ensembl
Innerchr12:21972512..21972722hg18UCSC Ensembl
Outerchr12:21972426..21972800hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38375
hg19375
hg18375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4540655
SamplesNA18507
Known GenesABCC9
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)esv1937162
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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