A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000741



Internal ID7065871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82085874..82098584hg38UCSC Ensembl
Outerchr17:80043750..80056460hg19UCSC Ensembl
Outerchr17:77637039..77649749hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3812711
hg1912711
hg1812711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564604
SamplesHuRef
Known GenesFASN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000741
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