A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4606060



Internal ID6845006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:134955073..134955718hg38UCSC Ensembl
Outerchr3:134954892..134955912hg38UCSC Ensembl
Innerchr3:134673915..134674560hg19UCSC Ensembl
Outerchr3:134673734..134674754hg19UCSC Ensembl
Innerchr3:136156605..136157250hg18UCSC Ensembl
Outerchr3:136156424..136157444hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381021
hg191021
hg181021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2309200
Supporting Variants
SamplesNA18507
Known GenesEPHB1
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)essv4606060
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer