A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720886



Internal ID10304522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:139229188..139230349hg38UCSC Ensembl
Outerchr2:139986758..139987919hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381162
hg191162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953450, essv6759350, essv6739162, essv6675585, essv6742450, essv6750904, essv6938088, essv6756818, essv6733753, essv6914323, essv6813507, essv6889348, essv6689637, essv6973070, essv6679560, essv6817044, essv6748085, essv6968384, essv6847641, essv6721832, essv6926032, essv6844214, essv6853834, essv6832957, essv6942252, essv6859651, essv6962181, essv6762079
SamplesSSM059, SSM036, SSM027, SSM087, SSM097, SSM088, SSM057, SSM023, SSM028, SSM061, SSM029, SSM062, SSM019, SSM032, SSM086, SSM033, SSM085, SSM082, SSM007, SSM078, SSM016, SSM053, SSM077, SSM022, SSM004, SSM052, SSM049, SSM056
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)esv2720886
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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