A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718148



Internal ID10301784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:9112134..9114477hg38UCSC Ensembl
Outerchr19:9222810..9225153hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382344
hg192344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758846, essv6928758, essv6761644, essv6744697
SamplesSSM059, SSM061, SSM019, SSM053
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)esv2718148
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