A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6763679



Internal ID10169932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1737362..1738467hg38UCSC Ensembl
Outerchr16:1787363..1788468hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381106
hg191106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750359, esv2750356
Supporting Variants
SamplesSSM062
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)essv6763679
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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