A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6713248



Internal ID9779011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65514040..65514304hg38UCSC Ensembl
Outerchr14:65980758..65981022hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748793, esv2748794, esv2748779
Supporting Variants
SamplesSSM042
Known GenesFUT8
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)essv6713248
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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