A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718900



Internal ID9953192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55203998..55204296hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv532e201
Supporting Variantsessv6883103, essv6895615, essv6828774, essv6674864, essv6674866, essv6694421, essv6868473, essv6868472, essv6909835, essv6888825, essv6871530, essv6863677, essv6807193
SamplesSSM074, SSM088, SSM090, SSM096, SSM089, SSM094, SSM031, SSM014, SSM005, SSM080, SSM098
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)esv2718900
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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