A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718836



Internal ID9953128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53698653..53716957hg38UCSC Ensembl
Outerchr19:54201907..54220211hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3818305
hg1918305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6788871
SamplesSSM069
Known GenesMIR517A, MIR518B, MIR518C, MIR518F, MIR519D, MIR520B, MIR520C, MIR521-2, MIR524, MIR526A1
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)esv2718836
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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