A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719039



Internal ID10302675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56600080..56600491hg38UCSC Ensembl
Outerchr19:57111448..57111859hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6685962, essv6832355, essv6750449, essv6810193, essv6667465, essv6858860, essv6921458, essv6902310, essv6871540, essv6915196, essv6666576, essv6874522, essv6852882, essv6877503, essv6787042, essv6913746, essv6895636, essv6741961, essv6729384, essv6797196, essv6835942, essv6682619, essv6804257, essv6710391, essv6801392, essv6678936, essv6747628, essv6925441, essv6839739, essv6707089, essv6843635, essv6941508, essv6846791, essv6950271, essv6769318, essv6972009, essv6967575, essv6917204, essv6744783, essv6868499, essv6874964, essv6888836, essv6807201, essv6793016, essv6933044, essv6948285, essv6863696, essv6733261, essv6696770, essv6928860, essv6946222, essv6820956, essv6746787, essv6674891, essv6782476, essv6954440, essv6901440, essv6937408, essv6714007, essv6692529, essv6961111, essv6909845, essv6813004, essv6668775, essv6885813, essv6764060, essv6689103, essv6815098, essv6883115, essv6824729, essv6788892, essv6721761, essv6703609, essv6780590
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM046, SSM011, SSM064, SSM079, SSM087, SSM039, SSM009, SSM073, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM085, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM037, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM052, SSM098, SSM056, SSM030, SSM012
Known GenesZNF71
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)esv2719039
Frequency
Sample Size96
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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