A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722369



Internal ID10306005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:35960526..35960928hg38UCSC Ensembl
Outerchr20:34548448..34548850hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874328, essv6925221, essv6843396, essv6682433, essv6852644
SamplesSSM084, SSM018, SSM086, SSM033, SSM091
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)esv2722369
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