A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003228



Internal ID6715360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9149641..9161642hg38UCSC Ensembl
Outerchr17:9052958..9064959hg19UCSC Ensembl
Outerchr17:8993683..9005684hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3812002
hg1912002
hg1812002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564043
SamplesHuRef
Known GenesNTN1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003228
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