A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1985052



Internal ID7309477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15775412..15775438hg38UCSC Ensembl
Outerchr16:15775192..15775658hg38UCSC Ensembl
Innerchr16:15869269..15869295hg19UCSC Ensembl
Outerchr16:15869049..15869515hg19UCSC Ensembl
Innerchr16:15776770..15776796hg18UCSC Ensembl
Outerchr16:15776550..15777016hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38467
hg19467
hg18467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4548663
SamplesNA18507
Known GenesMYH11
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)esv1985052
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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