A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1968192



Internal ID7292617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10462422..10462671hg38UCSC Ensembl
Outerchr18:10462250..10462824hg38UCSC Ensembl
Innerchr18:10462419..10462668hg19UCSC Ensembl
Outerchr18:10462247..10462821hg19UCSC Ensembl
Innerchr18:10452419..10452668hg18UCSC Ensembl
Outerchr18:10452247..10452821hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38575
hg19575
hg18575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4681334
SamplesNA18507
Known GenesAPCDD1
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)esv1968192
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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