A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2305625



Internal ID943718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189645530..189653118hg38UCSC Ensembl
Outerchr3:189645443..189653199hg38UCSC Ensembl
Innerchr3:189363319..189370907hg19UCSC Ensembl
Outerchr3:189363232..189370988hg19UCSC Ensembl
Innerchr3:190846013..190853601hg18UCSC Ensembl
Outerchr3:190845926..190853682hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387757
hg197757
hg187757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4889722
SamplesNA18507
Known GenesTP63
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)esv2305625
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