A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004827



Internal ID6716950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18324454..18330561hg38UCSC Ensembl
Outerchr17:18227768..18233875hg19UCSC Ensembl
Outerchr17:18168493..18174600hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386108
hg196108
hg186108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565227
SamplesHuRef
Known GenesSHMT1, SMCR8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004827
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