A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994929



Internal ID6730879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41182322..41190814hg38UCSC Ensembl
Outerchr6:41150060..41158552hg19UCSC Ensembl
Outerchr6:41258038..41266530hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg388493
hg198493
hg188493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565212
SamplesHuRef
Known GenesTREML2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994929
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