A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv484e201



Internal ID18984123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:605398..605722hg38UCSC Ensembl
chr19:605398..605722hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717754, esv2717752
SamplesSSM061, SSM025
Known GenesHCN2
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)dgv484e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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