A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718203



Internal ID10301839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13535599..13536451hg38UCSC Ensembl
Outerchr19:13646413..13647265hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38853
hg19853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950154, essv6745843, essv6738600, essv6766329, essv6735800, essv6763991, essv6750363, essv6689041, essv6814054, essv6946099
SamplesSSM024, SSM009, SSM050, SSM023, SSM062, SSM035, SSM007, SSM049, SSM056, SSM063
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)esv2718203
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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