A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6713269



Internal ID9779029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:102813071..102813196hg38UCSC Ensembl
Outerchr14:103279408..103279533hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749151
Supporting Variants
SamplesSSM042
Known GenesTRAF3
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)essv6713269
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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