A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714361



Internal ID10297997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46392330..46399940hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg197611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv358e201
Supporting Variantsessv6690743, essv6960173, essv6888409, essv6800775, essv6682053, essv6674011, essv6828239, essv6824161, essv6713468, essv6975694, essv6901809, essv6806774, essv6824167, essv6940891, essv6674021, essv6721217, essv6776191, essv6913127, essv6678360, essv6678357, essv6888408, essv6852046, essv6966633, essv6820310, essv6784113, essv6796574, essv6945569, essv6728816, essv6703002, essv6971382, essv6690754, essv6682054, essv6966632, essv6839157, essv6932416, essv6796575, essv6768910, essv6936753, essv6949644, essv6940893, essv6949634, essv6842978, essv6815894, essv6871129, essv6796564, essv6703001, essv6839155, essv6839151, essv6828237, essv6717323, essv6792390, essv6713453, essv6788305, essv6713460, essv6882718, essv6792389, essv6839175, essv6696127, essv6916602, essv6971387, essv6824160, essv6678373, essv6885425, essv6858047, essv6796563, essv6839156, essv6905411, essv6784114, essv6858048, essv6871128, essv6831832, essv6940892, essv6674019, essv6870631, essv6788306, essv6916611, essv6936722, essv6763710, essv6945566, essv6905410, essv6839152, essv6772612, essv6674012, essv6945557, essv6835386, essv6828238, essv6788304, essv6842979, essv6732661, essv6721206, essv6674010
SamplesSSM083, SSM071, SSM027, SSM024, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM039, SSM013, SSM074, SSM042, SSM023, SSM028, SSM084, SSM090, SSM021, SSM047, SSM069, SSM096, SSM062, SSM026, SSM094, SSM032, SSM031, SSM044, SSM086, SSM033, SSM066, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM022, SSM070, SSM095, SSM004, SSM043, 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)esv2714361
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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