A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865315



Internal ID9915579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58978222..58978283hg38UCSC Ensembl
Outerchr5:58274049..58274110hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730225, esv2730227, esv2730226
Supporting Variants
SamplesSSM089
Known GenesPDE4D
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)essv6865315
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