A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6798243



Internal ID10204551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3901595..4174373hg38UCSC Ensembl
Outerchr4:3903322..4176100hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38272779
hg19272779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726960
Supporting Variants
SamplesSSM072
Known GenesFAM86EP
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)essv6798243
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