A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv482e201



Internal ID18984121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:602720..603535hg38UCSC Ensembl
chr19:602720..603535hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717747, esv2717745
SamplesSSM022, SSM027, SSM082, SSM031, SSM072, SSM093, SSM037, SSM023, SSM068
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)dgv482e201
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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