A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971890



Internal ID9726780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5274442..5274839hg38UCSC Ensembl
Outerchr19:5274453..5274850hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718041
Supporting Variants
SamplesSSM028
Known GenesPTPRS
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)essv6971890
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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