A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747608



Internal ID10328578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43904011..43905959hg38UCSC Ensembl
Outerchr1:44369683..44371631hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381949
hg191949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20e201
Supporting Variantsessv6759078, essv6892345, essv6829033, essv6764182, essv6780909, essv6807392, essv6937710, essv6689286, essv6776964
SamplesSSM036, SSM075, SSM061, SSM067, SSM068, SSM081, SSM022, SSM098, SSM063
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)esv2747608
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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