A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2383897



Internal ID1021990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:6316088..6316133hg38UCSC Ensembl
Outerchr6:6315883..6316334hg38UCSC Ensembl
Innerchr6:6316321..6316366hg19UCSC Ensembl
Outerchr6:6316116..6316567hg19UCSC Ensembl
Innerchr6:6261320..6261365hg18UCSC Ensembl
Outerchr6:6261115..6261566hg18UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38452
hg19452
hg18452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4668720
SamplesNA18507
Known GenesF13A1
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)esv2383897
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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