A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1990859



Internal ID628952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:129287037..129287137hg38UCSC Ensembl
Outerchr6:129286903..129287301hg38UCSC Ensembl
Innerchr6:129608182..129608282hg19UCSC Ensembl
Outerchr6:129608048..129608446hg19UCSC Ensembl
Innerchr6:129649875..129649975hg18UCSC Ensembl
Outerchr6:129649741..129650139hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4971665
SamplesNA18507
Known GenesLAMA2
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)esv1990859
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