A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714409



Internal ID10298045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46383966..46392619hg38UCSC Ensembl
Outerchr16:46417878..46426531hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg388654
hg198654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv364e201
Supporting Variantsessv6752940, essv6895149, essv6971409, essv6732673, essv6901811, essv6747212, essv6852067, essv6750044, essv6936764, essv6758576, essv6735522, essv6831840, essv6846368, essv6755962, essv6766077, essv6758577, essv6744390, essv6761351, essv6714243, essv6913148, essv6752939, essv6820312, essv6911885, essv6776199, essv6741529, essv6690966, essv6766075
SamplesSSM059, SSM002, SSM057, SSM058, SSM028, SSM021, SSM047, SSM061, SSM086, SSM066, SSM006, SSM085, SSM081, SSM015, SSM078, SSM053, SSM005, SSM055, SSM052, SSM098, SSM049, SSM056, 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)esv2714409
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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