A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6945809



Internal ID9703700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82411808..82412286hg38UCSC Ensembl
Outerchr17:80369684..80370162hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716502
Supporting Variants
SamplesSSM023
Known GenesOGFOD3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6945809
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer