A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718354



Internal ID9952645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:22253315..22253543hg38UCSC Ensembl
Outerchr19:22436117..22436345hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674780, essv6797110, essv6832281, essv6703536, essv6874242, essv6937317, essv6960989, essv6820879, essv6807138, essv6750381, essv6839649, essv6678862, essv6967475, essv6921335, essv6721674, essv6954349, essv6753294, essv6917112
SamplesSSM083, SSM071, SSM027, SSM011, SSM039, SSM074, SSM057, SSM021, SSM026, SSM017, SSM032, SSM031, SSM044, SSM081, SSM078, SSM016, SSM025, 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)esv2718354
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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