A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718244



Internal ID9952535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15743561..15951200hg38UCSC Ensembl
Outerchr19:15854371..16062010hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38207640
hg19207640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716776, essv6828706, essv6858727, essv6905813, essv6810122, essv6766334, essv6941412, essv6666408, essv6950165, essv6937302, essv6763998, essv6960971, essv6745887, essv6758858, essv6913654, essv6682528, essv6913655, essv6741873, essv6858728, essv6937303, essv6738604, essv6689046, essv6839640, essv6868382, essv6756313, essv6909764, essv6841431, essv6950166, essv6820857, essv6841442, essv6797097, essv6738603, essv6871468, essv6901367, essv6707006, essv6692431, essv6788801, essv6895552, essv6892079, essv6868381, essv6832269, essv6816306, essv6843512, essv6766333, essv6852771, essv6895551, essv6750366, essv6707007, essv6917101, essv6814120, essv6863578, essv6843511, essv6717815, essv6769248, essv6784630, essv6814131, essv6901368, essv6852770, essv6852769, essv6960972, essv6812934, essv6747555, essv6682527
SamplesSSM100, SSM059, SSM036, SSM083, SSM071, SSM024, SSM075, SSM064, SSM087, SSM097, SSM013, SSM009, SSM050, SSM088, SSM058, SSM084, SSM090, SSM021, SSM069, SSM029, SSM062, SSM026, SSM089, SSM035, SSM014, SSM086, SSM033, SSM006, SSM068, SSM081, SSM040, SSM007, SSM015, SSM078, SSM016, SSM080, SSM077, SSM076, SSM022, SSM010, SSM055, SSM043, SSM052, SSM098, SSM056, SSM063
Known GenesCYP4F11, CYP4F2, CYP4F24P, OR10H1, OR10H4, OR10H5, UCA1
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)esv2718244
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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