A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971132



Internal ID9727462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:59078598..59078894hg38UCSC Ensembl
Outerchr14:59545316..59545612hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748744
Supporting Variants
SamplesSSM028
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)essv6971132
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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