A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993225



Internal ID6729186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109107719..109108527hg38UCSC Ensembl
chr6:109428922..109429730hg19UCSC Ensembl
chr6:109535615..109536423hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38809
hg19809
hg18809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583763
SamplesHuRef
Known GenesCEP57L1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993225
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