A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4749704



Internal ID7335336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195699244..195699286hg38UCSC Ensembl
Outerchr3:195699055..195699511hg38UCSC Ensembl
Innerchr3:195426115..195426157hg19UCSC Ensembl
Outerchr3:195425926..195426382hg19UCSC Ensembl
Innerchr3:196911295..196911337hg18UCSC Ensembl
Outerchr3:196911106..196911562hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38457
hg19457
hg18457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2110612
Supporting Variants
SamplesNA18507
Known GenesMIR570
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)essv4749704
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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