A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4927532



Internal ID7166478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37021646..37021957hg38UCSC Ensembl
Outerchr17:37021595..37022030hg38UCSC Ensembl
Innerchr17:35378945..35379256hg19UCSC Ensembl
Outerchr17:35378894..35379329hg19UCSC Ensembl
Innerchr17:32453058..32453369hg18UCSC Ensembl
Outerchr17:32453007..32453442hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38436
hg19436
hg18436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2315584
Supporting Variants
SamplesNA18507
Known GenesAATF
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)essv4927532
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