A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6840002



Internal ID10239484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43905316..43905826hg38UCSC Ensembl
Outerchr1:44370988..44371498hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747652, esv2747619
Supporting Variants
SamplesSSM084
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)essv6840002
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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