A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717879



Internal ID10301515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2153710..2154195hg38UCSC Ensembl
Outerchr19:2153709..2154194hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967397, essv6713897, essv6773077, essv6756286, essv6941378, essv6766306, essv6841242, essv6738573, essv6668694, essv6937260, essv6703486, essv6835825, essv6880189
SamplesSSM027, SSM065, SSM039, SSM093, SSM050, SSM042, SSM058, SSM021, SSM082, SSM022, SSM010, SSM030, SSM063
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)esv2717879
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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