A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2415749



Internal ID7740174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73373817..73374744hg38UCSC Ensembl
Outerchr17:73373753..73374820hg38UCSC Ensembl
Innerchr17:71369956..71370883hg19UCSC Ensembl
Outerchr17:71369892..71370959hg19UCSC Ensembl
Innerchr17:68881551..68882478hg18UCSC Ensembl
Outerchr17:68881487..68882554hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381068
hg191068
hg181068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4975270
SamplesNA18507
Known GenesSDK2
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)esv2415749
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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