A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2301284



Internal ID7625709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78508982..78509236hg38UCSC Ensembl
Outerchr17:78508876..78509344hg38UCSC Ensembl
Innerchr17:76505064..76505318hg19UCSC Ensembl
Outerchr17:76504958..76505426hg19UCSC Ensembl
Innerchr17:74016659..74016913hg18UCSC Ensembl
Outerchr17:74016553..74017021hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38469
hg19469
hg18469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4656772
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)esv2301284
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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