A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710415



Internal ID9774898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23853640..23856316hg38UCSC Ensembl
Outerchr22:24195827..24198503hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg382677
hg192677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724064, esv2724041
Supporting Variants
SamplesSSM041
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)essv6710415
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