A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714222



Internal ID10297858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:33032243..33033812hg38UCSC Ensembl
Outerchr16:33043564..33045133hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381570
hg191570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940858, essv6752933, essv6838364, essv6905383, essv6885408, essv6752375, essv6741518, essv6913091, essv6810166, essv6742142, essv6852018, essv6846354, essv6953785, essv6758571, essv6761345, essv6975550, essv6665506, essv6766067, essv6920753, essv6732629, essv6945526, essv6911763, essv6943095, essv6714166, essv6763699, essv6738248, essv6744378, essv6776174, essv6772585, essv6755953, essv6682023, essv6750033, essv6932392, essv6898014, essv6768894, essv6901791, essv6877075, essv6858011, essv6842955, essv6747200, essv6776711, essv6692017, essv6936696, essv6668472, essv6966600, essv6713431
SamplesSSM059, SSM036, SSM008, SSM027, SSM064, SSM065, SSM087, SSM013, SSM009, SSM050, SSM042, SSM002, SSM057, SSM023, SSM058, SSM092, SSM084, SSM021, SSM047, SSM061, SSM029, SSM062, SSM017, SSM003, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM020, SSM007, SSM015, SSM053, SSM022, SSM010, SSM055, SSM095, SSM025, SSM004, SSM099, SSM052, SSM056, SSM030, SSM063, 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)esv2714222
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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