A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6883101



Internal ID9931586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53714309..53735782hg38UCSC Ensembl
Outerchr19:54217563..54239036hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3821474
hg1921474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718837, esv2718833, esv2718812
Supporting Variants
SamplesSSM094
Known GenesMIR516B2, MIR517B, MIR518A1, MIR518D, MIR518E, MIR520D, MIR520G, MIR521-2, MIR526A2
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)essv6883101
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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