A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4842828



Internal ID7428460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:34405766..34405790hg38UCSC Ensembl
Outerchr11:34405548..34406008hg38UCSC Ensembl
Innerchr11:34427313..34427337hg19UCSC Ensembl
Outerchr11:34427095..34427555hg19UCSC Ensembl
Innerchr11:34383889..34383913hg18UCSC Ensembl
Outerchr11:34383671..34384131hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38461
hg19461
hg18461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2235781
Supporting Variants
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)essv4842828
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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