A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6783885



Internal ID9842538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104585417..104585945hg38UCSC Ensembl
Outerchr14:105051754..105052282hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749223
Supporting Variants
SamplesSSM068
Known GenesC14orf180
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)essv6783885
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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