A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720887



Internal ID10304523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:139229870..139230061hg38UCSC Ensembl
Outerchr2:139987440..139987631hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973070, essv6847641, essv6942252, essv6962181
SamplesSSM027, SSM023, SSM029, SSM086
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)esv2720887
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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