A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748488



Internal ID10329458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23989113..24036709hg38UCSC Ensembl
Outerchr14:24458322..24505918hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3847597
hg1947597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894890
SamplesSSM098
Known GenesDHRS4L1, DHRS4L2
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)esv2748488
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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