A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718353



Internal ID9952644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21973006..22181083hg38UCSC Ensembl
Outerchr19:22155808..22363885hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38208078
hg19208078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv513e201
Supporting Variantsessv6699395, essv6761657, essv6682541, essv6954348, essv6839648, essv6913666, essv6925347, essv6716932, essv6666622, essv6841586, essv6971925, essv6921334, essv6816317, essv6750379, essv6741885, essv6781343, essv6713938, essv6729315, essv6753293, essv6693987, essv6901379, essv6733164, essv6685914, essv6674779, essv6666435, essv6937316, essv6892091, essv6756325, essv6780492, essv6902227, essv6820878, essv6666436, essv6703535, essv6835863, essv6914630, essv6764006, essv6828715, essv6909775, essv6668721, essv6932945, essv6874432, essv6917111, essv6898365, essv6960988, essv6678861, essv6753292, essv6947596, essv6773123, essv6797108, essv6932941, essv6832280, essv6781376, essv6901378, essv6874220, essv6846719, essv6947584, essv6766346, essv6913667, essv6858757, essv6921333, essv6871478, essv6810130, essv6750380, essv6744718, essv6776668, essv6769256, essv6880214, essv6820875, essv6863592, essv6784644, essv6682540, essv6725495, essv6781354, essv6863593, essv6693976, essv6874231, essv6946116, essv6807137, essv6744716, essv6841575, essv6852788, essv6792912, essv6828714, essv6941420, essv6909774, essv6801306, essv6888778, essv6744717
SamplesSSM100, SSM008, SSM083, SSM071, SSM075, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM038, SSM097, SSM039, SSM093, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM058, SSM028, SSM090, SSM021, SSM047, SSM018, SSM061, SSM029, SSM096, SSM062, SSM026, SSM017, SSM032, SSM003, SSM031, SSM067, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM077, SSM022, SSM010, SSM091, SSM070, SSM025, SSM034, SSM004, SSM099, SSM052, SSM056, SSM030, SSM063, SSM012
Known GenesZNF208, ZNF257, ZNF676
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)esv2718353
Frequency
Sample Size96
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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