A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6789187



Internal ID10195348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43905320..43905794hg38UCSC Ensembl
Outerchr1:44370992..44371466hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747652, esv2747619
Supporting Variants
SamplesSSM070
Known GenesST3GAL3
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)essv6789187
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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