A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2142868



Internal ID780962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21894541..21894645hg38UCSC Ensembl
Outerchr12:21894351..21894805hg38UCSC Ensembl
Innerchr12:22047475..22047579hg19UCSC Ensembl
Outerchr12:22047285..22047739hg19UCSC Ensembl
Innerchr12:21938742..21938846hg18UCSC Ensembl
Outerchr12:21938552..21939006hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38455
hg19455
hg18455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4815257
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)esv2142868
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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