A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1956864



Internal ID7281289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24696417..24696759hg38UCSC Ensembl
Outerchr13:24696243..24696940hg38UCSC Ensembl
Innerchr13:25270555..25270897hg19UCSC Ensembl
Outerchr13:25270381..25271078hg19UCSC Ensembl
Innerchr13:24168555..24168897hg18UCSC Ensembl
Outerchr13:24168381..24169078hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38698
hg19698
hg18698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4787768
SamplesNA18507
Known GenesATP12A
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)esv1956864
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