A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2245687



Internal ID883780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:6277123..6277368hg38UCSC Ensembl
Outerchr6:6276910..6277563hg38UCSC Ensembl
Innerchr6:6277356..6277601hg19UCSC Ensembl
Outerchr6:6277143..6277796hg19UCSC Ensembl
Innerchr6:6222355..6222600hg18UCSC Ensembl
Outerchr6:6222142..6222795hg18UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38654
hg19654
hg18654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4825938
SamplesNA18507
Known GenesF13A1
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)esv2245687
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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