A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718805



Internal ID9953097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52918874..52920974hg38UCSC Ensembl
Outerchr19:53422127..53424227hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801353, essv6828763, essv6933007, essv6717420, essv6950231, essv6928827, essv6797164, essv6852854, essv6895604, essv6678897, essv6816357, essv6721723, essv6892123, essv6835902, essv6885801, essv6868459, essv6804245, essv6792983, essv6788862, essv6814854, essv6713981, essv6888816, essv6898417, essv6832328, essv6874484, essv6877476, essv6824702, essv6917173, essv6738661, essv6674850, essv6863663, essv6782099, essv6915029, essv6689091, essv6750425, essv6913723, essv6807185, essv6717897, essv6820934, essv6694310, essv6682596, essv6776703, essv6696745, essv6699426, essv6758897, essv6746543, essv6948085, essv6753340, essv6692502, essv6773178, essv6747602, essv6764044, essv6937381, essv6905881, essv6785265, essv6941486, essv6685946, essv6756380, essv6812989, essv6925411, essv6733219, essv6784694, essv6901422, essv6843586, essv6666525, essv6971982, essv6921421, essv6839705, essv6892122, essv6707072, essv6744760, essv6858819, essv6871522, essv6741941
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM024, SSM079, SSM065, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM044, SSM001, 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 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)esv2718805
Frequency
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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