A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750341



Internal ID10331311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1397510..1397798hg38UCSC Ensembl
Outerchr16:1447511..1447799hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971325, essv6839080, essv6888353, essv6721142, essv6820254, essv6788244, essv6709876, essv6696061, essv6678287, essv6784047, essv6800713, essv6702925, essv6828175, essv6713398, essv6824089, essv6835313, essv6806733, essv6681996, essv6905348, essv6744355, essv6891666, essv6966555, essv6895066, essv6882677
SamplesSSM083, SSM027, SSM079, SSM097, SSM039, SSM013, SSM074, SSM042, SSM041, SSM028, SSM069, SSM096, SSM094, SSM032, SSM044, SSM033, SSM068, SSM072, SSM082, SSM078, SSM053, SSM080, SSM037, SSM098
Known GenesUNKL
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)esv2750341
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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