A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2260074



Internal ID7584499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10757460..10757522hg38UCSC Ensembl
Outerchr18:10757248..10757726hg38UCSC Ensembl
Innerchr18:10757458..10757520hg19UCSC Ensembl
Outerchr18:10757246..10757724hg19UCSC Ensembl
Innerchr18:10747458..10747520hg18UCSC Ensembl
Outerchr18:10747246..10747724hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38479
hg19479
hg18479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4827872
SamplesNA18507
Known GenesPIEZO2
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)esv2260074
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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