A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4676841



Internal ID7262473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56737224..56737265hg38UCSC Ensembl
Outerchr17:56737039..56737443hg38UCSC Ensembl
Innerchr17:54814585..54814626hg19UCSC Ensembl
Outerchr17:54814400..54814804hg19UCSC Ensembl
Innerchr17:52169584..52169625hg18UCSC Ensembl
Outerchr17:52169399..52169803hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38405
hg19405
hg18405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2294409
Supporting Variants
SamplesNA18507
Known Genes
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)essv4676841
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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