A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748793



Internal ID9983077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65513954..65514311hg38UCSC Ensembl
Outerchr14:65980672..65981029hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779734, essv6857662, essv6772350, essv6945269, essv6738598, essv6842726, essv6862728, essv6959763, essv6846173, essv6916380, essv6717085, essv6941318, essv6835145, essv6775968, essv6894910, essv6706461, essv6738097, essv6720974, essv6831593, essv6868331, essv6713248, essv6901593, essv6882541, essv6932164, essv6966271, essv6809607, essv6900837, essv6741329, essv6912890, essv6765938, essv6732420, essv6973461, essv6953532, essv6971140, essv6740442, essv6792149, essv6905169, essv6728593, essv6796316, essv6876885, essv6800529, essv6803692, essv6879682, essv6940638, essv6709738, essv6838891, essv6783855, essv6928166, essv6744226
SamplesSSM100, SSM083, SSM071, SSM027, SSM075, SSM046, SSM011, SSM065, SSM087, SSM013, SSM073, SSM093, SSM050, SSM042, SSM088, SSM041, SSM023, SSM028, SSM092, SSM084, SSM047, SSM026, SSM019, SSM094, SSM003, SSM067, SSM044, SSM001, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM022, SSM070, SSM025, SSM004, SSM043, SSM052, SSM098, SSM063, SSM012
Known GenesFUT8
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)esv2748793
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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