A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2209241



Internal ID7533666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67731261..67731513hg38UCSC Ensembl
Outerchr17:67731041..67731720hg38UCSC Ensembl
Innerchr17:65727377..65727629hg19UCSC Ensembl
Outerchr17:65727157..65727836hg19UCSC Ensembl
Innerchr17:63157839..63158091hg18UCSC Ensembl
Outerchr17:63157619..63158298hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38680
hg19680
hg18680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4685875
SamplesNA18507
Known GenesNOL11
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)esv2209241
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer