A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750353



Internal ID10331323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1735284..1735543hg38UCSC Ensembl
Outerchr16:1785285..1785544hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713400, essv6717266, essv6828177, essv6953747, essv6851955
SamplesSSM042, SSM086, SSM080, SSM025, 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)esv2750353
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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