A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2718344

Internal ID9952635
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21720178..21722790hg38UCSC Ensembl
Outerchr19:21902980..21905592hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710334, essv6788805, essv6914608, essv6880212, essv6824642, essv6733163, essv6852784, essv6885762, essv6735810, essv6781310, essv6780490, essv6932939, essv6843523, essv6703533, essv6689051, essv6756324, essv6784641, essv6761656, essv6858755, essv6666611, essv6753291, essv6946111, essv6773122, essv6729314, essv6807135, essv6871477, essv6960985, essv6967472, essv6717827, essv6685912, essv6744715, essv6696691, essv6750378, essv6668720, essv6812941, essv6954347, essv6693965, essv6941419, essv6678858, essv6810129, essv6758868, essv6892089, essv6692440, essv6707015, essv6699394, essv6804206, essv6820873, essv6769255, essv6898363, essv6725490, essv6801304, essv6738612, essv6682538, essv6937314, essv6846718, essv6863590, essv6776667
SamplesSSM065, SSM022, SSM027, SSM053, SSM086, SSM036, SSM033, SSM084, SSM061, SSM099, SSM040, SSM078, SSM043, SSM088, SSM090, SSM064, SSM035, SSM025, SSM072, SSM020, SSM057, SSM032, SSM039, SSM045, SSM067, SSM050, SSM097, SSM041, SSM005, SSM093, SSM056, SSM085, SSM066, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM087, SSM038, SSM046, SSM023, SSM079, SSM068, SSM074, SSM004, SSM075, SSM026, SSM049, SSM008, SSM076, SSM058, SSM059
Known Genes
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2718344
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0

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