A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714203



Internal ID10297839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32359969..32360617hg38UCSC Ensembl
Outerchr16:32371290..32371938hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38649
hg19649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv335e201
Supporting Variantsessv6905378, essv6702961, essv6928341, essv6751708, essv6784082, essv6690565, essv6874040, essv6806758, essv6742076, essv6732619, essv6901786, essv6975461, essv6838331, essv6895094, essv6835342, essv6966598, essv6741515, essv6696096, essv6699087, essv6810121, essv6820292, essv6932387, essv6888384, essv6960137, essv6803858, essv6792359, essv6949605, essv6940857, essv6796533, essv6911708, essv6709901, essv6846348, essv6678320, essv6692013, essv6936688, essv6916577, essv6913084, essv6706649, essv6858002, essv6898008, essv6772579, essv6721170, essv6943040, essv6877070, essv6768889, essv6879837, essv6815871, essv6885404
SamplesSSM036, SSM071, SSM027, SSM024, SSM064, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM002, SSM041, SSM092, SSM021, SSM047, SSM096, SSM026, SSM019, SSM032, SSM003, SSM044, SSM001, SSM085, SSM068, SSM040, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM037, SSM077, SSM022, SSM010, SSM091, SSM070, SSM095, SSM004, SSM099, SSM052, SSM098, 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)esv2714203
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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