A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6732434



Internal ID10143234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:76856540..76856955hg38UCSC Ensembl
Outerchr14:77322883..77323298hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748891
Supporting Variants
SamplesSSM047
Known GenesC14orf166B
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)essv6732434
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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