A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4675196



Internal ID6914142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78474889..78475042hg38UCSC Ensembl
Outerchr17:78474725..78475176hg38UCSC Ensembl
Innerchr17:76470971..76471124hg19UCSC Ensembl
Outerchr17:76470807..76471258hg19UCSC Ensembl
Innerchr17:73982566..73982719hg18UCSC Ensembl
Outerchr17:73982402..73982853hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38452
hg19452
hg18452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2185799
Supporting Variants
SamplesNA18507
Known GenesDNAH17
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)essv4675196
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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