A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714205



Internal ID10297841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32359988..32360642hg38UCSC Ensembl
Outerchr16:32371309..32371963hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv335e201
Supporting Variantsessv6928341, essv6751708, essv6690565, essv6874040, essv6806758, essv6742076, essv6732619, essv6901786, essv6975461, essv6895094, essv6835342, essv6966598, essv6741515, essv6696096, essv6699087, essv6810121, essv6820292, essv6932387, essv6960137, essv6792359, essv6949605, essv6940857, essv6709901, essv6846348, essv6692013, essv6916577, essv6913084, essv6706649, essv6858002, essv6898008, essv6721170, essv6943040, essv6877070, essv6768889, essv6879837, essv6815871
SamplesSSM036, SSM027, SSM024, SSM064, SSM087, SSM038, SSM009, SSM093, SSM074, SSM041, SSM092, SSM047, SSM026, SSM019, SSM003, SSM044, SSM001, SSM085, SSM040, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM037, SSM077, SSM022, SSM091, SSM070, 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)esv2714205
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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