A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718298



Internal ID9952589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19845078..20128700hg38UCSC Ensembl
Outerchr19:19955887..20239509hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38283623
hg19283623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814155, essv6835858, essv6932938, essv6756317, essv6781243, essv6841487, essv6960979, essv6764001, essv6666419, essv6937308, essv6914529, essv6788803, essv6716809, essv6729310, essv6902222, essv6804203, essv6858739, essv6773115, essv6812938, essv6738606, essv6880210, essv6883055, essv6812936, essv6902223, essv6696688, essv6905817, essv6901370, essv6812937, essv6693887, essv6858737, essv6703529, essv6750368, essv6764002, essv6753281, essv6735805, essv6756316, essv6666418, essv6716821, essv6839643, essv6843515, essv6885759, essv6780821, essv6780482
SamplesSSM010, SSM065, SSM013, SSM082, SSM006, SSM084, SSM020, SSM057, SSM001, SSM039, SSM067, SSM094, SSM083, SSM050, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM009, SSM029, SSM095, SSM073, SSM069, SSM021, SSM002, SSM037, SSM087, SSM046, SSM026, SSM049, SSM008, SSM076, SSM058
Known GenesZNF253, ZNF682, ZNF90, ZNF93
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)esv2718298
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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