A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718344



Internal ID9952635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21720178..21722790hg38UCSC Ensembl
Outerchr19:21902980..21905592hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg382613
hg192613
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
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)esv2718344
Frequency
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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