A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714708



Internal ID9948992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:75395822..75396785hg38UCSC Ensembl
Outerchr16:75429720..75430683hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38964
hg19964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928424, essv6863083, essv6714454, essv6806806, essv6803911, essv6888466, essv6809829, essv6835433, essv6871170, essv6692091, essv6824209, essv6901057, essv6943596, essv6796635, essv6738278, essv6696169, essv6752959, essv6674110, essv6916679, essv6945611, essv6750061, essv6688761, essv6742764, essv6846396, essv6831869, essv6755983, essv6895179, essv6885463, essv6877111, essv6717374, essv6741551, essv6758592, essv6912052, essv6713514, essv6838798, essv6768941, essv6725062, essv6732720, essv6949705, essv6682113, essv6858091, essv6976095, essv6800857, essv6960255, essv6815949, essv6721272, essv6776247, essv6901840, essv6971441, essv6820345, essv6940957, essv6924904, essv6744403, essv6843050, essv6852115, essv6763733, essv6932495, essv6913181, essv6755376, essv6665613, essv6905456, essv6879900, essv6703054, essv6747234, essv6735547, essv6909448, essv6898050, essv6936791, essv6728864, essv6772649, essv6874088
SamplesSSM100, SSM059, SSM036, SSM071, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM039, SSM013, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM029, SSM096, SSM062, SSM026, SSM019, SSM035, SSM003, SSM031, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM095, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM012
Known GenesCFDP1
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)esv2714708
Frequency
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer