A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989994



Internal ID7061237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133784924..133786239hg38UCSC Ensembl
chr3:133503768..133505083hg19UCSC Ensembl
chr3:134986458..134987773hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381316
hg191316
hg181316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3579451
SamplesHuRef
Known GenesSRPRB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989994
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