A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6962601



Internal ID10068425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:171316952..171317005hg38UCSC Ensembl
Outerchr3:171034741..171034794hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726197, esv2726199
Supporting Variants
SamplesSSM027
Known GenesTNIK
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)essv6962601
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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