A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv491e201



Internal ID22759849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3177734..3178211hg38UCSC Ensembl
chr19:3177732..3178209hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717935, esv2717933
SamplesSSM027, SSM087, SSM093, SSM088, SSM029, SSM096, SSM026, SSM089, SSM031, SSM078, SSM016, SSM049
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)dgv491e201
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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