A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749297



Internal ID9983581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105459535..105460088hg38UCSC Ensembl
Outerchr14:105925872..105926425hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6681889
SamplesSSM033
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)esv2749297
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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