A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718345



Internal ID9952636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21776858..21777073hg38UCSC Ensembl
Outerchr19:21959660..21959875hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6788806, essv6863591, essv6880213, essv6909772, essv6828713, essv6868396, essv6797107, essv6792911, essv6874209, essv6721671, essv6946112, essv6703534, essv6820874, essv6960986, essv6892090, essv6807136, essv6780491, essv6901375, essv6824644, essv6713937, essv6666434, essv6674777, essv6852787, essv6784642, essv6685913, essv6888776, essv6858756, essv6967474, essv6689052
SamplesSSM100, SSM071, SSM027, SSM011, SSM079, SSM087, SSM097, SSM039, SSM093, SSM074, SSM042, SSM088, SSM023, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM078, SSM080, SSM070, SSM034
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)esv2718345
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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