A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2161601



Internal ID7486026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136279877..136289710hg38UCSC Ensembl
Outerchr6:136279795..136289796hg38UCSC Ensembl
Innerchr6:136601015..136610848hg19UCSC Ensembl
Outerchr6:136600933..136610934hg19UCSC Ensembl
Innerchr6:136642708..136652541hg18UCSC Ensembl
Outerchr6:136642626..136652627hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3810002
hg1910002
hg1810002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4680019
SamplesNA18507
Known GenesBCLAF1
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)esv2161601
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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