A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2129462



Internal ID767555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:129180030..129180081hg38UCSC Ensembl
Outerchr6:129179863..129180256hg38UCSC Ensembl
Innerchr6:129501175..129501226hg19UCSC Ensembl
Outerchr6:129501008..129501401hg19UCSC Ensembl
Innerchr6:129542868..129542919hg18UCSC Ensembl
Outerchr6:129542701..129543094hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38394
hg19394
hg18394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4720195
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)esv2129462
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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