A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2335139



Internal ID7659564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88493073..88493219hg38UCSC Ensembl
Outerchr16:88492915..88493374hg38UCSC Ensembl
Innerchr16:88559481..88559627hg19UCSC Ensembl
Outerchr16:88559323..88559782hg19UCSC Ensembl
Innerchr16:87086982..87087128hg18UCSC Ensembl
Outerchr16:87086824..87087283hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38460
hg19460
hg18460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4670511
SamplesNA18507
Known GenesZFPM1
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)esv2335139
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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