A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2718298

Internal ID9952589
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19845078..20128700hg38UCSC Ensembl
Outerchr19:19955887..20239509hg19UCSC Ensembl
Allele length
AssemblyAllele length
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, essv6716809, essv6788803, essv6729310, essv6804203, essv6902222, essv6773115, essv6858739, 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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2718298
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0

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