A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2334754



Internal ID8005865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56635689..56635843hg38UCSC Ensembl
Outerchr4:56635533..56635997hg38UCSC Ensembl
Innerchr4:57501855..57502009hg19UCSC Ensembl
Outerchr4:57501699..57502163hg19UCSC Ensembl
Innerchr4:57196612..57196766hg18UCSC Ensembl
Outerchr4:57196456..57196920hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38465
hg19465
hg18465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4977707
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)esv2334754
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