A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv527e201



Internal ID22759885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49444141..49444356hg38UCSC Ensembl
chr19:49947398..49947613hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718720, esv2718717
SamplesSSM083, SSM027, SSM038, SSM097, SSM042, SSM088, SSM023, SSM028, SSM090, SSM069, SSM089, SSM035, SSM031, SSM014, SSM086, SSM095, SSM034
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)dgv527e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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