A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4819289



Internal ID7404921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:43442268..43442302hg38UCSC Ensembl
Outerchr4:43442069..43442497hg38UCSC Ensembl
Innerchr4:43444285..43444319hg19UCSC Ensembl
Outerchr4:43444086..43444514hg19UCSC Ensembl
Innerchr4:43139042..43139076hg18UCSC Ensembl
Outerchr4:43138843..43139271hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38429
hg19429
hg18429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2352113
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)essv4819289
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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