A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854256



Internal ID9905627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184367862..184368259hg38UCSC Ensembl
Outerchr3:184085650..184086047hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726298
Supporting Variants
SamplesSSM087
Known GenesPOLR2H
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)essv6854256
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