A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854250



Internal ID10252308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:179901089..179901152hg38UCSC Ensembl
Outerchr3:179618877..179618940hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726259, esv2726258
Supporting Variants
SamplesSSM087
Known GenesPEX5L
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)essv6854250
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