A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714031



Internal ID9948315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:16840472..16846567hg38UCSC Ensembl
Outerchr16:16934329..16940424hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg386096
hg196096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831783, essv6891677, essv6885390, essv6750019, essv6706635, essv6842938, essv6699073, essv6916560, essv6721153, essv6888364, essv6846332, essv6673952, essv6971343, essv6940837, essv6870020, essv6709890, essv6776522, essv6741954, essv6911652, essv6874028, essv6900987, essv6758556, essv6897997, essv6975262, essv6867770, essv6763685, essv6728761, essv6835327, essv6665469, essv6905366, essv6691995, essv6732601, essv6901770, essv6895078, essv6803841
SamplesSSM100, SSM059, SSM036, SSM008, SSM046, SSM011, SSM038, SSM097, SSM013, SSM073, SSM002, SSM041, SSM028, SSM084, SSM047, SSM029, SSM096, SSM062, SSM089, SSM031, SSM044, SSM085, SSM081, SSM040, SSM082, SSM007, SSM016, SSM022, SSM091, SSM095, SSM004, SSM099, SSM098, SSM056, 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)esv2714031
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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