A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747674



Internal ID10328644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43905765..43906181hg38UCSC Ensembl
Outerchr1:44371437..44371853hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961602
SamplesSSM027
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)esv2747674
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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