A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724127



Internal ID9958428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29767558..29769677hg38UCSC Ensembl
Outerchr22:30163547..30165666hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382120
hg192120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863740, essv6815510
SamplesSSM088, SSM009
Known GenesUQCR10
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)esv2724127
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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