A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990746



Internal ID7076877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:79966060..79974247hg38UCSC Ensembl
Outerchr4:80887214..80895401hg19UCSC Ensembl
Outerchr4:81106238..81114425hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg388188
hg198188
hg188188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565274
SamplesHuRef
Known GenesANTXR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990746
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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