A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749295



Internal ID9983579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105455752..105456229hg38UCSC Ensembl
Outerchr14:105922089..105922566hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953579
SamplesSSM025
Known GenesMTA1
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)esv2749295
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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