A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2323749



Internal ID961842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102949186..102949510hg38UCSC Ensembl
Outerchr1:102948989..102949694hg38UCSC Ensembl
Innerchr1:103414742..103415066hg19UCSC Ensembl
Outerchr1:103414545..103415250hg19UCSC Ensembl
Innerchr1:103187330..103187654hg18UCSC Ensembl
Outerchr1:103187133..103187838hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38706
hg19706
hg18706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4809519
SamplesNA18507
Known GenesCOL11A1
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)esv2323749
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