A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002451



Internal ID6714585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78393244..78402755hg38UCSC Ensembl
Outerchr17:76389325..76398836hg19UCSC Ensembl
Outerchr17:73900920..73910431hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg389512
hg199512
hg189512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564600
SamplesHuRef
Known GenesPGS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002451
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