A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718391



Internal ID9952682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:28026709..28956637hg38UCSC Ensembl
Outerchr19:28517616..29447544hg19UCSC Ensembl
Cytoband19q11
Allele length
AssemblyAllele length
hg38929929
hg19929929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921349, essv6888789, essv6807145, essv6674795, essv6682550, essv6782043, essv6874443, essv6868410, essv6950188, essv6753302, essv6961002, essv6905832, essv6735817, essv6696697, essv6750386, essv6788819, essv6674796, essv6950187, essv6703542, essv6666449, essv6746120, essv6781510, essv6917121, essv6824657, essv6685923, essv6858773, essv6874376, essv6807147, essv6689063, essv6746131, essv6682551, essv6717043, essv6703544, essv6863608, essv6685924, essv6954359, essv6781521, essv6758872, essv6932955, essv6756330, essv6756329, essv6824658, essv6810139, essv6932956, essv6828726, essv6852798, essv6674794, essv6971933, essv6928790, essv6812955, essv6692452, essv6753301, essv6841720, essv6735816, essv6937324, essv6852799, essv6820892, essv6729327, essv6761663, essv6898373, essv6721684, essv6874387, essv6888787, essv6807146, essv6835872, essv6961003, essv6750388, essv6941430, essv6699404, essv6846730, essv6946130, essv6921350
SamplesSSM059, SSM036, SSM008, SSM024, SSM075, SSM046, SSM011, SSM079, SSM087, SSM038, SSM039, SSM013, SSM074, SSM088, SSM057, SSM023, SSM058, SSM028, SSM021, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM031, SSM044, SSM001, SSM086, SSM033, SSM006, SSM085, SSM082, SSM020, SSM007, SSM078, SSM016, SSM080, SSM037, SSM076, SSM022, SSM010, SSM091, SSM025, SSM034, SSM099, SSM049, 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)esv2718391
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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