A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847354



Internal ID9899415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246004015..246004067hg38UCSC Ensembl
Outerchr1:246167317..246167369hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727162, esv2727184
Supporting Variants
SamplesSSM086
Known GenesSMYD3
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)essv6847354
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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