A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6728596



Internal ID9792533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70424476..70424998hg38UCSC Ensembl
Outerchr14:70891193..70891715hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748839, esv2748837
Supporting Variants
SamplesSSM046
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)essv6728596
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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