A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717931



Internal ID10301567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3177627..3178208hg38UCSC Ensembl
Outerchr19:3177625..3178206hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv489e201
Supporting Variantsessv6863546, essv6937268, essv6832245, essv6666357, essv6917070, essv6880192, essv6960921, essv6967404, essv6735782, essv6674734
SamplesSSM027, SSM093, SSM088, SSM021, SSM029, SSM026, SSM031, SSM081, SSM016, SSM049
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)esv2717931
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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