A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816390



Internal ID10218231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17419404..17419543hg38UCSC Ensembl
Outerchr22:17898451..17898590hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723949
Supporting Variants
SamplesSSM077
Known Genes
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)essv6816390
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