A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv729e201



Internal ID22760087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17103872..17104408hg38UCSC Ensembl
chr22:17584762..17585298hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741237, esv2723941
SamplesSSM071, SSM045, SSM039, SSM074, SSM069
Known GenesIL17RA
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)dgv729e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer