A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747630



Internal ID10328600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43904583..43905206hg38UCSC Ensembl
Outerchr1:44370255..44370878hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892345, essv6829033, essv6780909, essv6807392, essv6937710, essv6689286
SamplesSSM036, SSM075, SSM068, SSM081, SSM022, SSM098
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)esv2747630
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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