A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718042



Internal ID9952333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5274566..5274725hg38UCSC Ensembl
Outerchr19:5274577..5274736hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960944, essv6839621, essv6932913
SamplesSSM083, SSM026, SSM020
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)esv2718042
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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