A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718192



Internal ID10301828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12294071..12440401hg38UCSC Ensembl
Outerchr19:12404886..12551215hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38146331
hg19146330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874053, essv6863570, essv6928764, essv6820849, essv6814020, essv6753272, essv6913644, essv6758850, essv6773100, essv6710319, essv6666400, essv6917088, essv6902211, essv6699385, essv6812927, essv6960961, essv6689039, essv6780475, essv6689040, essv6810118, essv6852761, essv6820848, essv6816299, essv6971907, essv6666389, essv6814009, essv6909757, essv6758851, essv6713923, essv6666411, essv6839630, essv6812928, essv6928763, essv6874412, essv6788793, essv6769244, essv6733147, essv6685899, essv6913643, essv6763990, essv6692425, essv6898347, essv6784625, essv6781143, essv6682520, essv6967448, essv6839629, essv6950153, essv6871461, essv6863571, essv6801289, essv6895545, essv6871460, essv6901363, essv6716732, essv6885747, essv6797088, essv6946097, essv6716743, essv6750362, essv6835846, essv6941403, essv6846697, essv6913645, essv6706997, essv6946098, essv6766328, essv6747546, essv6699384, essv6967447, essv6883049, essv6874415, essv6841387, essv6706996, essv6905805, essv6843501, essv6921312, essv6710318, essv6666397, essv6744701, essv6814043, essv6839632, essv6668712, essv6914440, essv6781132, essv6937291, essv6773102, essv6874414, essv6937292, essv6717805, essv6954327, essv6776650, essv6745809, essv6666399, essv6717807, essv6814031, essv6901364, essv6747545, essv6902212, essv6874413, essv6909758, essv6693765, essv6971908, essv6971905, essv6741870, essv6693754, essv6738596, essv6874064, essv6812926, essv6885748, essv6682518, essv6682519, essv6925334, essv6917089, essv6880202, essv6666398, essv6717806, essv6909756, essv6761646, essv6668709, essv6901362, essv6843502, essv6735799, essv6947385, essv6950149, essv6905806, essv6843500, essv6773101, essv6874416, essv6905808, essv6716721, essv6756306, essv6733148, essv6692426, essv6801287, essv6741869, essv6877423, essv6852762, essv6928765, essv6763989, essv6750361, essv6841376, essv6753273, essv6744700, essv6883048, essv6745821, essv6902210
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM011, SSM064, SSM065, SSM038, SSM013, SSM009, SSM093, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM017, SSM019, SSM035, SSM094, SSM003, SSM067, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM040, SSM072, SSM082, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesZNF44, ZNF442, ZNF443, ZNF563, ZNF799
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)esv2718192
Frequency
Sample Size96
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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