A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2131572



Internal ID7455997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24229071..24229086hg38UCSC Ensembl
Outerchr2:24228856..24229298hg38UCSC Ensembl
Innerchr2:24451940..24451955hg19UCSC Ensembl
Outerchr2:24451725..24452167hg19UCSC Ensembl
Innerchr2:24305444..24305459hg18UCSC Ensembl
Outerchr2:24305229..24305671hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38443
hg19443
hg18443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4648429
SamplesNA18507
Known GenesITSN2
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)esv2131572
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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