A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4742262



Internal ID7327894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:31502172..31502476hg38UCSC Ensembl
Outerchr3:31501994..31502650hg38UCSC Ensembl
Innerchr3:31543664..31543968hg19UCSC Ensembl
Outerchr3:31543486..31544142hg19UCSC Ensembl
Innerchr3:31518668..31518972hg18UCSC Ensembl
Outerchr3:31518490..31519146hg18UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg38657
hg19657
hg18657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2155591
Supporting Variants
SamplesNA18507
Known Genes
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)essv4742262
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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