A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816428



Internal ID10218266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43280859..43281407hg38UCSC Ensembl
Outerchr22:43676865..43677413hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724304, esv2724307, esv2724305
Supporting Variants
SamplesSSM077
Known GenesSCUBE1
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)essv6816428
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