A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714564



Internal ID10298200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:58911910..58920323hg38UCSC Ensembl
Outerchr16:58945814..58954227hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg388414
hg198414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858072, essv6750051, essv6665586, essv6713506, essv6960233, essv6898037, essv6838676, essv6682105, essv6916666, essv6763724, essv6714343, essv6806797, essv6976028, essv6901832
SamplesSSM087, SSM074, SSM042, SSM029, SSM062, SSM026, SSM033, SSM006, SSM016, SSM010, SSM004, SSM099, 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)esv2714564
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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