A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2182271



Internal ID7506696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:28382896..28382999hg38UCSC Ensembl
Outerchr6:28382723..28383188hg38UCSC Ensembl
Innerchr6:28350673..28350776hg19UCSC Ensembl
Outerchr6:28350500..28350965hg19UCSC Ensembl
Innerchr6:28458652..28458755hg18UCSC Ensembl
Outerchr6:28458479..28458944hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38466
hg19466
hg18466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4857572
SamplesNA18507
Known GenesZSCAN12
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)esv2182271
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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