A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1996882



Internal ID7667993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:53699708..53701647hg38UCSC Ensembl
Outerchr4:53699537..53701832hg38UCSC Ensembl
Innerchr4:54565875..54567814hg19UCSC Ensembl
Outerchr4:54565704..54567999hg19UCSC Ensembl
Innerchr4:54260632..54262571hg18UCSC Ensembl
Outerchr4:54260461..54262756hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382296
hg192296
hg182296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4699822
SamplesNA18507
Known Genes
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)esv1996882
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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