A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780547



Internal ID9839287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53317558..53317856hg38UCSC Ensembl
Outerchr19:53820811..53821109hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718815, esv2718787, esv2718812
Supporting Variants
SamplesSSM067
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)essv6780547
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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