A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990977



Internal ID6726942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:185724664..185727322hg38UCSC Ensembl
Outerchr3:185442452..185445110hg19UCSC Ensembl
Outerchr3:186925146..186927804hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg382659
hg192659
hg182659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565133
SamplesHuRef
Known GenesIGF2BP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990977
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