A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2172212



Internal ID7843323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:111882667..111882964hg38UCSC Ensembl
Outerchr6:111882460..111883183hg38UCSC Ensembl
Innerchr6:112203870..112204167hg19UCSC Ensembl
Outerchr6:112203663..112204386hg19UCSC Ensembl
Innerchr6:112310563..112310860hg18UCSC Ensembl
Outerchr6:112310356..112311079hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38724
hg19724
hg18724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4668431
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)esv2172212
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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