A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2714708

Internal ID9948992
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:75395822..75396785hg38UCSC Ensembl
Outerchr16:75429720..75430683hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6776247, essv6901057, essv6943596, essv6945611, essv6871170, essv6838798, essv6824209, essv6758592, essv6971441, essv6936791, essv6924904, essv6820345, essv6852115, essv6713514, essv6809829, essv6682113, essv6949705, essv6905456, essv6772649, essv6913181, essv6735547, essv6895179, essv6815949, essv6879900, essv6932495, essv6750061, essv6752959, essv6696169, essv6742764, essv6912052, essv6674110, essv6960255, essv6665613, essv6940957, essv6909448, essv6744403, essv6843050, essv6755376, essv6763733, essv6898050, essv6692091, essv6888466, essv6732720, essv6717374, essv6800857, essv6755983, essv6877111, essv6747234, essv6725062, essv6916679, essv6796635, essv6928424, essv6858091, essv6728864, essv6688761, essv6714454, essv6721272, essv6741551, essv6703054, essv6768941, essv6976095, essv6885463, essv6874088, essv6835433, essv6738278, essv6901840, essv6831869, essv6806806, essv6863083, essv6803911, essv6846396
SamplesSSM010, SSM065, SSM022, SSM007, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM099, SSM042, SSM078, SSM043, SSM088, SSM090, SSM064, SSM031, SSM035, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM039, SSM024, SSM045, SSM050, SSM077, SSM062, SSM012, SSM093, SSM100, SSM056, SSM085, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM021, SSM002, SSM037, SSM087, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM098, SSM018, SSM058, SSM059, SSM081
Known GenesCFDP1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2714708
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0

Hosted by The Centre for Applied Genomics
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