A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4717672



Internal ID7303304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:106676656..106676962hg38UCSC Ensembl
Outerchr6:106676471..106677155hg38UCSC Ensembl
Innerchr6:107124531..107124837hg19UCSC Ensembl
Outerchr6:107124346..107125030hg19UCSC Ensembl
Innerchr6:107231224..107231530hg18UCSC Ensembl
Outerchr6:107231039..107231723hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38685
hg19685
hg18685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2180999
Supporting Variants
SamplesNA18507
Known Genes
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)essv4717672
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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