A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748464



Internal ID9982748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21998256..22490526hg38UCSC Ensembl
Outerchr14:22466495..22959514hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38492271
hg19493020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916345, essv6738073, essv6755760, essv6909112, essv6924582, essv6717055, essv6809576, essv6713220, essv6706427, essv6945237, essv6838864, essv6685307, essv6900802, essv6966207, essv6973173, essv6744197, essv6691815, essv6953503, essv6803662, essv6758394, essv6910229, essv6941062, essv6901532, essv6688833, essv6815670, essv6695824, essv6894886, essv6673582, essv6912855, essv6783823, essv6702708, essv6678063, essv6774453, essv6709706, essv6720945, essv6971101, essv6909113, essv6775940, essv6823889, essv6732379, essv6897825, essv6728569, essv6806563, essv6800482, essv6932126, essv6796282, essv6749860, essv6732380, essv6842700, essv6977693, essv6977692, essv6936422, essv6905131, essv6876860, essv6796283, essv6888197, essv6851606, essv6815671, essv6949348, essv6812398, essv6775939, essv6835112, essv6846139, essv6885242, essv6867943, essv6772322, essv6747033, essv6763532, essv6891491, essv6737153, essv6897824, essv6681830, essv6713219, essv6971100, essv6867479, essv6763533, essv6768692, essv6808009, essv6737042, essv6779694, essv6741295, essv6838866, essv6827978, essv6788034, essv6752748, essv6905132, essv6836565, essv6916346, essv6698930, essv6792113, essv6857606, essv6724735, essv6835113, essv6873859, essv6870901, essv6735351, essv6928134, essv6879657, essv6862684, essv6761141, essv6959698, essv6761143, essv6920466, essv6774464, essv6820005, essv6720946, essv6882512, essv6882511, essv6740198, essv6688477, essv6668336
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM012
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)esv2748464
Frequency
Sample Size96
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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