A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4768404



Internal ID7007350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:43888041..43888441hg38UCSC Ensembl
Outerchr11:43887979..43888530hg38UCSC Ensembl
Innerchr11:43909591..43909991hg19UCSC Ensembl
Outerchr11:43909529..43910080hg19UCSC Ensembl
Innerchr11:43866167..43866567hg18UCSC Ensembl
Outerchr11:43866105..43866656hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38552
hg19552
hg18552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2028436
Supporting Variants
SamplesNA18507
Known GenesALKBH3
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)essv4768404
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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