A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718896



Internal ID9953188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55203960..55204852hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg19893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv531e201
Supporting Variantsessv6883103, essv6874842, essv6895615, essv6797175, essv6824716, essv6863678, essv6946195, essv6813000, essv6810183, essv6828774, essv6674864, essv6674866, essv6961081, essv6694421, essv6858836, essv6868473, essv6717911, essv6868472, essv6843605, essv6678907, essv6797174, essv6804250, essv6801367, essv6820943, essv6883104, essv6703601, essv6839725, essv6725563, essv6852868, essv6892131, essv6909835, essv6888825, essv6871530, essv6685951, essv6852867, essv6863677, essv6807193, essv6725562
SamplesSSM083, SSM071, SSM075, SSM045, SSM011, SSM079, SSM087, SSM097, SSM039, SSM073, SSM074, SSM088, SSM023, SSM084, SSM090, SSM096, SSM026, SSM089, SSM094, SSM032, SSM031, SSM014, SSM086, SSM072, SSM078, SSM005, SSM080, SSM076, SSM034, SSM043, SSM098
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)esv2718896
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer