A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2263528



Internal ID7587953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39498892..39499236hg38UCSC Ensembl
Outerchr17:39498772..39499361hg38UCSC Ensembl
Innerchr17:37655145..37655489hg19UCSC Ensembl
Outerchr17:37655025..37655614hg19UCSC Ensembl
Innerchr17:34908671..34909015hg18UCSC Ensembl
Outerchr17:34908551..34909140hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38590
hg19590
hg18590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4994004
SamplesNA18507
Known GenesCDK12
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)esv2263528
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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