A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6820090



Internal ID10219686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104807644..104807739hg38UCSC Ensembl
Outerchr14:105273981..105274076hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749233, esv2749230, esv2749232, esv2749231, esv2749228
Supporting Variants
SamplesSSM078
Known Genes
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)essv6820090
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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