A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713982



Internal ID10297618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:11908421..11908849hg38UCSC Ensembl
Outerchr16:12002278..12002706hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6838198, essv6713407, essv6867766, essv6942917, essv6857971, essv6784057, essv6713976, essv6920720, essv6766048, essv6690410, essv6924833, essv6709883, essv6750015, essv6800726, essv6932360, essv6862977, essv6871092, essv6913064, essv6747186, essv6820267, essv6885385, essv6842934, essv6882682, essv6966567, essv6732594, essv6772560, essv6897992, essv6953763, essv6706631, essv6975206, essv6788255, essv6768868, essv6744357, essv6724941, essv6665462, essv6905359, essv6900985, essv6879822, essv6776147, essv6851979, essv6928321, essv6673946, essv6960100, essv6940828, essv6668453, essv6895073, essv6696072, essv6721150, essv6741495, essv6831778, essv6971337, essv6839100, essv6741908, essv6916557, essv6911641, essv6776477, essv6835323, essv6945498, essv6750931, essv6877049, essv6728758, essv6901765, essv6796507, essv6779930, essv6752911, essv6758552, essv6815856, essv6763683, essv6682005, essv6691991
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM045, SSM046, SSM064, SSM065, SSM087, SSM013, SSM093, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM010, SSM055, SSM095, SSM025, SSM004, SSM099, SSM052, SSM098, SSM056, SSM030, SSM063, SSM012
Known GenesGSPT1
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)esv2713982
Frequency
Sample Size96
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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