A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750408



Internal ID10331378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3469306..3469611hg38UCSC Ensembl
Outerchr16:3519306..3519611hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960088, essv6857958, essv6702930, essv6735491, essv6820258, essv6862966, essv6862965, essv6900978, essv6755929, essv6945486, essv6800716, essv6796500
SamplesSSM100, SSM071, SSM087, SSM039, SSM088, SSM023, SSM058, SSM026, 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)esv2750408
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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