A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2346022



Internal ID984115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4807100..4807181hg38UCSC Ensembl
Outerchr3:4806930..4807342hg38UCSC Ensembl
Innerchr3:4848784..4848865hg19UCSC Ensembl
Outerchr3:4848614..4849026hg19UCSC Ensembl
Innerchr3:4823784..4823865hg18UCSC Ensembl
Outerchr3:4823614..4824026hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38413
hg19413
hg18413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4697998
SamplesNA18507
Known GenesITPR1
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)esv2346022
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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