A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718448



Internal ID10302084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:31004028..31004913hg38UCSC Ensembl
Outerchr19:31494934..31495819hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874431, essv6761669, essv6682558, essv6792929, essv6880228, essv6717109, essv6967494, essv6784660, essv6674803, essv6814432
SamplesSSM027, SSM011, SSM009, SSM093, SSM061, SSM031, SSM033, SSM006, SSM068, SSM070
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)esv2718448
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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