A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2182370



Internal ID7853481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167004620..167004681hg38UCSC Ensembl
Outerchr6:167004431..167004868hg38UCSC Ensembl
Innerchr6:167418108..167418169hg19UCSC Ensembl
Outerchr6:167417919..167418356hg19UCSC Ensembl
Innerchr6:167338098..167338159hg18UCSC Ensembl
Outerchr6:167337909..167338346hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38438
hg19438
hg18438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4915152
SamplesNA18507
Known GenesFGFR1OP
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)esv2182370
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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