A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718804



Internal ID9953096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52857951..52943030hg38UCSC Ensembl
Outerchr19:53361204..53446283hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3885080
hg1985080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892120, essv6801353, essv6828763, essv6933007, essv6839707, essv6909827, essv6717420, essv6950231, essv6928827, essv6797164, essv6852854, essv6928826, essv6801352, essv6895604, essv6678897, essv6721722, essv6816357, essv6721723, essv6892123, essv6835902, essv6885801, essv6868459, essv6804245, essv6792983, essv6788862, essv6814854, essv6921417, essv6713981, essv6689090, essv6888816, essv6898417, essv6729356, essv6832328, essv6874484, essv6877476, essv6824702, essv6917173, essv6738661, essv6674850, essv6863663, essv6782099, essv6915029, essv6689091, essv6666524, essv6750425, essv6788861, essv6913723, essv6807185, essv6717897, essv6820934, essv6694310, essv6682596, essv6776703, essv6696745, essv6699426, essv6758897, essv6746543, essv6948085, essv6753340, essv6692502, essv6773178, essv6746532, essv6747602, essv6764044, essv6694332, essv6812988, essv6756379, essv6937381, essv6905881, essv6785265, essv6941486, essv6685946, essv6756380, essv6812989, essv6909828, essv6925411, essv6733219, essv6784694, essv6901422, essv6843586, essv6666525, essv6971982, essv6921421, essv6839705, essv6710369, essv6892122, essv6871521, essv6874485, essv6707072, essv6744760, essv6858819, essv6871522, essv6741941
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM024, SSM046, SSM079, SSM065, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM034, SSM099, SSM043, SSM052, SSM098, SSM056
Known GenesZNF320, ZNF321P, ZNF816-ZNF321P
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)esv2718804
Frequency
Sample Size96
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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