A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780453



Internal ID10185889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:534642..535034hg38UCSC Ensembl
Outerchr19:534642..535034hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717723, esv2717721
Supporting Variants
SamplesSSM067
Known GenesCDC34
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)essv6780453
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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