A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750406



Internal ID10331376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3469202..3469863hg38UCSC Ensembl
Outerchr16:3519202..3519863hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38662
hg19662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv324e201
Supporting Variantsessv6960088, essv6857958, essv6665447, essv6702930, essv6735491, essv6879815, essv6820259, essv6820258, essv6862966, essv6678291, essv6842926, essv6891670, essv6862965, essv6900978, essv6755929, essv6945486, essv6800716, essv6796500
SamplesSSM100, SSM071, SSM087, SSM097, SSM039, SSM093, SSM088, SSM023, SSM058, SSM084, SSM029, SSM026, SSM032, SSM072, SSM078, SSM049
Known GenesNAA60
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)esv2750406
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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