A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913729



Internal ID9677661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54133530..54133829hg38UCSC Ensembl
Outerchr19:54636957..54637347hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38300
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718812, esv2718855
Supporting Variants
SamplesSSM015
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)essv6913729
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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