A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750354



Internal ID10331324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1735330..1736991hg38UCSC Ensembl
Outerchr16:1785331..1786992hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381662
hg191662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713400, essv6717266, essv6839084, essv6828177, essv6960079, essv6851955
SamplesSSM083, SSM042, SSM026, SSM086, SSM080, SSM043
Known GenesMAPK8IP3
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)esv2750354
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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